Sickle Cell News from Allan Platt
Sickle Cell News for September 2014
Management of Sickle Cell Disease
Summary of the 2014 Evidence-Based Report by Expert Panel Members

Barbara P. Yawn, MD, MSc, MSPH1; George R. Buchanan, MD2; Araba N. Afenyi-Annan, MD, MPH3; Samir K. Ballas, MD4; Kathryn L. Hassell, MD5; Andra H. James, MD, MPH6; Lanetta Jordan, MD, MPH, MSPH7; Sophie M. Lanzkron, MD, MHS8; Richard Lottenberg, MD9; William J. Savage, MD, PhD10; Paula J. Tanabe, PhD, RN11; Russell E. Ware, MD, PhD12; M. Hassan Murad, MD, MPH13; Jonathan C. Goldsmith, MD14,16; Eduardo Ortiz, MD, MPH14,17; Robinson Fulwood, PhD, MSPH14,18; Ann Horton, MS15; Joylene John-Sowah, MD, MPH14

Findings Strong recommendations for preventive services include daily oral prophylactic penicillin up to the age of 5 years, annual transcranial Doppler examinations from the ages of 2 to 16 years in those with sickle cell anemia, and long-term transfusion therapy to prevent stroke in those children with abnormal transcranial Doppler velocity (≥200 cm/s). Strong recommendations addressing acute complications include rapid initiation of opioids for treatment of severe pain associated with a vasoocclusive crisis, and use of incentive spirometry in patients hospitalized for a vasoocclusive crisis. Strong recommendations for chronic complications include use of analgesics and physical therapy for treatment of avascular necrosis, and use of angiotensin-converting enzyme inhibitor therapy for microalbuminuria in adults with SCD. Strong recommendations for children and adults with proliferative sickle cell retinopathy include referral to expert specialists for consideration of laser photocoagulation and for echocardiography to evaluate signs of pulmonary hypertension. Hydroxyurea therapy is strongly recommended for adults with 3 or more severe vasoocclusive crises during any 12-month period, with SCD pain or chronic anemia interfering with daily activities, or with severe or recurrent episodes of acute chest syndrome. A recommendation of moderate strength suggests offering treatment with hydroxyurea without regard to the presence of symptoms for infants, children, and adolescents. In persons with sickle cell anemia, preoperative transfusion therapy to increase hemoglobin levels to 10 g/dL is strongly recommended with a moderate strength recommendation to maintain sickle hemoglobin levels of less than 30% prior to the next transfusion during long-term transfusion therapy. A strong recommendation to assess iron overload is accompanied by a moderate strength recommendation to begin iron chelation therapy when indicated.

Conclusions and Relevance Hydroxyurea and transfusion therapy are strongly recommended for many individuals with SCD. Many other recommendations are based on quality of evidence that is less than high due to the paucity of clinical trials regarding screening, management, and monitoring for individuals with SCD.

http://jama.jamanetwork.com/article.aspx?articleid=1902235

Evidence-Based Management of Sickle Cell Disease: Expert Panel Report, 2014

http://www.nhlbi.nih.gov/health-pro/guidelines/sickle-cell-disease-guidelines/

Quick Guide as PDF : http://www.nhlbi.nih.gov/health-pro/guidelines/sickle-cell-disease-guidelines/quickguide.pdf

Full Text version as a Word Document : http://www.nhlbi.nih.gov/health-pro/guidelines/sickle-cell-disease-guidelines/sickle-cell-disease-report.docx

Guidelines for the management of sickle cell disease in Tanzania 25th September 2014

Guidelines for the management of sickle cell disease in Tanzania were released on 25th September 2014 in Dar-es-Salaam, Tanzania. Tanzania has one of the highest annual births of SCD individuals in the world, estimated to be 11,000 births a year. With cost-effective interventions under-five mortality in SCD can be reduced by up to 70%. In an attempt to address the burden of disease, Tanzania has recognised SCD as a major public health problem that has been included as a priority condition in the national strategy for non-communicable diseases.

Successful partnership between Muhimbili University of Health and Allied Sciences (http://www.muhas.ac.tz) and Muhimbili National hospital (http://www.mnh.or.tz/), with support from the Wellcome Trust, has led to the establishment of a systematic framework for Sickle Cell Disease. Muhimbili combines health care and research with development of evidence-based policies to improve practice http://www.muhimbili-wellcome.org/. Since 2004, prospective care has been provided to over 3,000 SCD patients with research leading to increased understanding of the clinical spectrum of SCD in this setting.

Efforts to raise awareness has been through partnership with advocacy organizations that include the Sickle Cell Foundation of Tanzania http://sicklecelltz.org/ and the Sickle Cell Disease patients community of Tanzania
https://www.facebook.com/pages/Sickle-Cell-Disease-Patients-Community-of-Tanzania/196478293727340

Media reports Daily News Tanzania reports on launch of Treatment guidelines for Sickle Cell Disease. http://dailynews.co.tz/index.php/local-news/36441-sickle-cell-treatment-guidelines-launched MNH launches sickle cell anaemia management guidelines http://www.ippmedia.com/frontend/index.php?l=72556

Sickle Cell Disease Newborn Screening Program Follow-up

Thank you to those of you who attended the Community Forum on Future Directions of the Sickle Cell Disease Newborn Screening Program that were held earlier this summer. The recording for the webinar can be found https://nichq.webex.com/nichq/lsr.php?RCID=1cc2dbd65c7d6fe8cbf2b5b0f0abe7db

and an FAQ document is attached for your reference. Please direct all questions to Dr. Edward Donnell Ivy, Medical Officer of the Genetic Services Branch of HRSA, at eivy@hrsa.gov.

Q: Can you explain HRSA’s vision for the regional lead organization, including what organizationsshould apply and what they can expect to do in this role?

A: The regional lead should be a community-based organization that has a history of working with the sickle cell population and collaborating with organizations across state lines. HRSA’s preference is for the regional lead to be a community-based organization, with an understanding that not all states or regions have community-based organizations with the infrastructure in place to meet the requirements of the program. In such cases, HRSA will consider healthcare organizations that work closely with community based organizations.

Q: Can you provide more details about the regional structure?

A: When creating the regional structure, HRSA encourages the lead organization to form a network that will cover the region adequately. Participation from multiple states will be required, with a strong preference to have representation from all states in the region. While applicants should demonstrate some agreement of collaboration across organizations and states in the application, time will also be allocated to solidify additional partnerships after funding is granted. There is no limit to the number of community-based organizations that can participate in a regional program.

Q: Can you explain what a national backbone organization is and what sort of organization would be most successful in this role?

A: The term “national backbone organization” comes from the Collective Impact framework, and offers a more defined description of the national lead organization. The national backbone organization functions collaboratively with regional and local centers to achieve a common goal. Its role also includes the work of defining a common agenda and getting buy-in from partners. Those applying for this role should be nationally-recognized organizations that have a history of working in the field of sickle cell disease for a minimum of five years, and have participated in collaborative efforts with two community based organizations in each of the funded regions for the SCD Treatment Demonstration Program.

Q: Will there be recommended interventions that all regional and state leads will need to implement?

A: Newborn Screening Program grantees will use sickle cell educator/counselors to seek out individuals with sickle cell disease and help them access medical homes where they can receive care. Newborn Screening Program grantees will be required to work closely ith the grantees of the Treatment Demonstration Program to increase the availability and use of sickle cell medical homes. To accomplish this, Newborn Screening Program grantees will also implement strategies to partner with state government entities and other stakeholders in the region.

Q: When will the funding opportunity announcement be released?

A: We estimate the announcement will be released in December 2014 or January 2015.

Q: How can interested groups apply?

A: All information regarding the funding opportunity will be released on grants.gov.

Rapid And Cheap Sickle Cell Diagnosis For The Developing World http://www.meddeviceonline.com/doc/rapid-and-cheap-sickle-cell-diagnosis-for-the-developing-world-0001

Sickle cell anemia is a major problem in developing African countries, affecting many hundreds of thousands of children each year. Diagnosis is costly and many die because of this, but new research from Harvard could have an impact by providing a cheap and rapid diagnostic test.

Sickle cell anemia is a disease that is common in areas of Africa where malaria is present. In some scenarios, the disease helps people from developing severe malaria, but there are many problems when a person inherits the full form of the disease.

Sickle cells are red blood cells that assume a sickle shape and are much more rigid than normal blood cells. This can cause them to break or rupture when they are forced through narrow capillaries. It can even lead to a buildup in junctions of capillaries, consequently closing them off.

“The best way to state it is in terms of the actual problem,” A. J. Kumar, a postdoctoral fellow who worked with colleagues in the lab of professor George Whitesides to develop the test, said in a recent press release. “About 300,000 children are born every year with sickle cell disease, and the vast majority — about 80 to 90 percent — are in either Africa or India, where for the most part, they aren’t going to get access to the current screening tests.”

In a research study published in the Proceedings of the National Academy of Science, the new screening method developed by Kumar and team was discussed. Its effectiveness is based on cell density, a key difference between sickle cells and normal blood cells. Sickle cells have a higher density and thus can be induced to separate from the normal cells using a polymer solution. This can be done in about 12 minutes and at the cost of about 50 cents, according to the press release.

The polymer solution used in the test is made of different densities of material. Given this, the polymers separate like oil and water, according to the press release. When this happens, it causes the denser sickle cells to separate from the normal cells. The current device uses a capillary tube and is envisioned to only require a finger prick’s worth of blood to operate.

"The tests we have today work great, they have a very high sensitivity," Kumar said in the press release. "But the equipment needed to run them costs in the tens of thousands of dollars, and they take hours to run. That's not amenable to rural clinics, or even some cities where the medical infrastructure isn't up to the standards we see in the U.S. That's where having a rapid, low-cost test becomes important and this paper shows such a test can potentially work."

The development of cheap and rapid laboratory tests is currently a focus for many researchers who wish to provide the developing world with tools to increase the standard of healthcare. In an article recently published on Medical Device Online, a device that analyzes multiple clinical assays was introduced for this very purpose.

Sickle cell in the Medical Literature

1. Genet Med. 2014 Sep 25. doi: 10.1038/gim.2014.123. [Epub ahead of print] Mortality of New York children with sickle cell disease identified through newborn screening. Wang Y1, Liu G2, Caggana M3, Kennedy J4, Zimmerman R4, Oyeku SO5, Werner EM6, Grant AM7, Green NS8, Grosse SD7.

Author information: 11] School of Public Health, University at Albany, State University of New York, Albany, New York, USA [2] Division of Data Management and Research, Office of Primary Care and Health Management System, New York State Department of Health, Albany, New York, USA. 2School of Public Health, University at Albany, State University of New York, Albany, New York, USA. 31] School of Public Health, University at Albany, State University of New York, Albany, New York, USA [2] Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, New York, USA.
4Office of Vital Statistics, New York City Department of Health and Mental Hygiene, New York, New York, USA. 5Department of Pediatrics, Albert Einstein College of Medicine/Children's Hospital Montefiore, New York, New York, USA. 6Division of Blood Diseases and Resources, National Heart, Lung and Blood Institute, Bethesda, Maryland, USA. 7Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA. 8Department of Pediatrics, Columbia University Medical Center, New York, New York, USA.
Abstract
Purpose:Long-term follow-up of newborn screening for conditions such as sickle cell disease can be conducted using linkages to population-based data. We sought to estimate childhood sickle cell disease mortality and risk factors among a statewide birth cohort with sickle cell disease identified through newborn screening.Methods:Children with sickle cell disease identified by newborn screening and born to New York residents in 2000-2008 were matched to birth and death certificates. Mortality rates were calculated (using numbers of deaths and observed person-years at risk) and compared with mortality rates for all New York children by maternal race/ethnicity. Stratified analyses were conducted to examine associations between selected factors and mortality.Results:Among 1,911 infants with sickle cell disease matched to birth certificates, 21 deaths were identified. All-cause mortality following diagnosis was 3.8 per 1,000 person-years in the first 2 years of life and 1.0 per 1,000 person-years at ages 2-9 years. The mortality rate was significantly lower among children of foreign-born mothers and was significantly higher among preterm infants with low birth weight. The mortality rates were not significantly higher for infants after 28 days with sickle cell disease than for all New York births, but they were 2.7-8.4 times higher for children 1 through 9 years old with homozygous sickle cell disease than for those of all non-Hispanic black or Hispanic children born to New York residents.Conclusion:Estimated mortality risk in children with homozygous sickle cell disease remains elevated even after adjustment for maternal race/ethnicity. These results provide evidence regarding the current burden of child mortality among children with sickle cell disease despite newborn screening.Genet Med advance online publication 25 September 2014Genetics in Medicine (2014); doi:10.1038/gim.2014.123.

PMID: 25255366 [PubMed - as supplied by publisher]

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2. World J Clin Pediatr. 2013 Nov 8;2(4):65-9. doi: 10.5409/wjcp.v2.i4.65. eCollection 2013. Tramadol use in pediatric sickle cell disease patients with vaso-occlusive crisis. Borgerding MP, Absher RK, So TY.
Author information: Mary P Borgerding, Randall K Absher, Department of Pharmacy, Wesley Long Hospital, Greensboro, NC 27401, United States.
Abstract
AIM:
To evaluate whether the addition of scheduled oral tramadol to intravenous morphine and intravenous ketorolac reduces morphine requirements.
METHODS:
This single-centered, Institutional Review Board-approved, retrospective study at Moses Cone Memorial Hospital included pediatric patients who were ≥ 2 years old with vaso-occlusive crisis (VOC) caused by sickle cell disease (SCD), were on morphine patient-controlled analgesia (PCA), and had scheduled oral tramadol added to their standard pain regimen. The study population was admitted between March 2008 and March 2011. The data was collected from electronic records and included age, weight, morphine use, tramadol use, hemoglobin, pain scores, number of days on PCA, length of hospital stay, respiratory rate, and polyethylene glycol use. Thirty patients were analyzed as independent admissions and seven patients as paired admissions.
RESULTS:
Eighteen pediatric SCD patients with VOC received morphine PCA and intravenous ketorolac and twelve patients received morphine PCA and intravenous ketorolac and scheduled oral tramadol. Baseline characteristics were similar between both groups with the exception of the average weight, which was greater in the tramadol group than in the morphine group. The average morphine requirements in patients with and without the use of tramadol were similar, both for the independent admissions [0.58 mg/kg per day vs 0.65 mg/kg per day (P = 0.31)] and the paired admissions [0.71 mg/kg per day vs 0.77 mg/kg per day (P = 0.5)]. The daily polyethylene glycol requirement was less in the tramadol group for both the independent [0.5 g/kg per day vs 0.6 g/kg per day (P = 0.64)] and paired admissions analyses [and 0.41 g/kg per day vs 0.55 g/kg per day (P = 0.67)].
CONCLUSION:

The addition of scheduled tramadol in patients receiving concomitant morphine and ketorolac demonstrates a trend toward decreased morphine and polyethylene glycol use.
PMCID: PMC4145650 Free Article

PMID: 25254176 [PubMed]

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3. Transfusion. 2014 Sep 23. doi: 10.1111/trf.12875. [Epub ahead of print]
Immunohematologic tolerance of chronic transfusion exchanges with erythrocytapheresis in sickle cell disease. Michot JM1, Driss F, Guitton C, Moh Klaren J, Lefebvre F, Chamillard X, Gallon P, Fourn E, Pela AM, Tertian G, Le Bras P, Chantalat-Auger C, Delfraissy JF, Goujard C, Lambotte O. Author information:
1Service de Médecine Interne et Immunologie Clinique, Assistance Publique-Hôpitaux de Paris, Hôpital Universitaire Bicêtre, Le Kremlin-Bicêtre, France; Université Paris Sud 11, Le Kremlin-Bicêtre, France.
Abstract

BACKGROUND:
Sickle cell disease (SCD) has become a major public health issue. Hydroxyurea and red blood cell (RBC) transfusion are the cornerstone treatments. Erythrocytapheresis (ECP) is an automated method for transfusion exchange. Given that ECP requires more blood than conventional transfusion, there is concern about alloimmunization and hemolytic transfusion reactions. We evaluate the incidence of hemolytic transfusion reactions and alloimmunization rates in patients receiving conventional blood transfusions and in patients participating in long-term blood exchange programs with ECP.
STUDY DESIGN AND METHODS:

All hemolytic transfusion reactions and alloimmunizations in SCD patients were recorded over the period 2006 to 2011. Conventional transfusions and ECP were compared.
RESULTS:

The cohort consisted of 188 SCD patients. The median (±SD) age was 23 (±14) years. The ECP and conventional transfusion groups comprised 49 and 139 patients, respectively. The prevalence of alloimmunization was 33% in the ECP group and 22% in the conventional transfusion group (p = 0.1797). The alloimmunization/RBC unit (RBCU) ratio was lower in the ECP group than in the conventional transfusion group (1.6 and 11.6 per 1000, respectively; p < 0.0001). Although patients in the ECP group received more than 10 times more RBCUs than patients in the conventional transfusion group (206 vs. 19 RBCUs per patient, respectively; p < 0.0001), none of the four recorded hemolytic transfusion reactions (n = 4) occurred.
CONCLUSION:

Regarding alloimmunization, ECP exhibits a good immunohematologic safety profile relative to conventional transfusion in a large SCD mainly adult cohort. © 2014 AABB.

PMID: 25251746 [PubMed - as supplied by publisher]

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4. Expert Rev Hematol. 2014 Sep 22:1-7. [Epub ahead of print]

Hydroxyurea therapy contributes to infertility in adult men with sickle cell disease: a review.

DeBaun MR.
Author information:
Department of Pediatrics, Division of Hematology/Oncology, Vanderbilt-Meharry-Matthew Walker Center for Excellence in Sickle Cell Disease, Vanderbilt University Medical Center 2200 Children's Way, Room 11206 DOT, Nashville, TN 37232-9000, USA.
Abstract
Hydroxyurea therapy, a chemotherapeutic agent, is the only US FDA approved therapy for the prevention of vaso-occlusive pain in sickle cell disease (SCD). The National Institutes of Health has sponsored two Phase III randomized, placebo-controlled trials, initially in adults, and subsequently in children with sickle cell anemia (SCA). Despite the overwhelming evidence that hydroxyurea therapy is beneficial to children and adults with SCA, individuals with SCA and their families express reservations about its use, in part because of the concerns about fertility, particularly in men. As adolescent boys with SCD are now expected to reach their reproductive years, a new concern is emerging about the role of hydroxyurea therapy as a barrier to their progeny. This review will systemically evaluate compromised fertility in men with SCD, and the evidence that hydroxyurea therapy is associated with further decreasing fertility in men with SCD. PMID: 25242414 [PubMed - as supplied by publisher] Related citations
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5. J Emerg Nurs. 2014 Sep 18. pii: S0099-1767(14)00325-0. doi: 10.1016/j.jen.2014.07.014. [Epub ahead of print] Safety of an ED High-Dose Opioid Protocol for Sickle Cell Disease Pain.
Tanabe P1, Martinovich Z2, Buckley B2, Schmelzer A2, Paice JA2.
Author information:
1Durham, NC; Chicago, IL. Electronic address: paula.tanabe@duke.edu.
2Durham, NC; Chicago, IL.
Abstract
INTRODUCTION:
A nurse-initiated high dose, opioid protocol for vaso-occlusive crisis (VOC) was implemented. Total intravenous morphine sulfate equivalents (IVMSE) in mgs] and safety was evaluated.
METHODS:
A medical record review was conducted for all ED visits in adult patients with VOC post protocol implementation. Opioids doses and routes administered during the ED stay, and six hours into the hospital admission were abstracted and total IVMSE administered calculated. Oxygen saturation (SPO2), respiratory rate (RR), administration of naloxone or vasoactive medications, evidence of respiratory arrest, or any other types of resuscitation effort were abstracted. A RR of <10 or SPO2 <92% were coded as abnormal. Descriptive statistics report the total dose. Logistic regression was used to predict abnormal events. Predictors were age, gender, ED dose (10 mg increments) administered, and time from 1st dose to discharge from ED.
RESULTS:

72 patients, 603 visits, 276 admitted. The total (ED & hospital dose) mean (95% CI) mg IVMSE administered for all visits was 93 mg (CI 86, 100), ED visit 63 mg (CI 59, 67) and hospital 66 mg (CI 59, 72). The mean (SD) time from administration of 1st analgesic dose to discharge from the ED was 203 (143) minutes, (range = 30-1396 minutes). During two visits, patients experienced a RR <10; while 61 visits were associated with a SPO2 <92%. No medications were administered, or resuscitative measures required. Controlling for demographics and evaluated at the average total ED dose, the longer patients were in the ED, patients were 1.359 times more likely to experience an abnormal vital sign. Controlling for demographics and evaluated at the average total time in the ED, for every 10 mg increase in IVMSE, patients were 1.057 times more likely to experience an abnormal vital sign. The effect of ED dose on the odds of experiencing an abnormal vital sign decreased by a multiplicative factor of 0.0970 for every 1 hour increase in time until discharge. The larger the dose administered in less time, the more likely patients experienced an abnormal vital sign.
DISCUSSION:
High opioid doses were safely administered to patients with sickle cell disease.
Copyright © 2014 Emergency Nurses Association. Published by Elsevier Inc. All rights reserved. Published by Elsevier Inc. All rights reserved.
PMID: 25241635 [PubMed - as supplied by publisher]
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6. Arch Dis Child. 2014 Sep 19. pii: archdischild-2013-303773. doi: 10.1136/archdischild-2013-303773. [Epub ahead of print]
Sickle cell disease: a neglected chronic disease of increasing global health importance.
Chakravorty S1, Williams TN2.
Author information:
1Department of Medicine, Imperial College, London, UK.
2Department of Medicine, Imperial College, London, UK KEMRI-Wellcome Trust Research Programme, Kilifi, Kenya.
Abstract
Sickle cell disease (SCD) is a single gene disorder causing a debilitating systemic syndrome characterised by chronic anaemia, acute painful episodes, organ infarction and chronic organ damage and by a significant reduction in life expectancy. The origin of SCD lies in the malarial regions of the tropics where carriers are protected against death from malaria and hence enjoy an evolutionary advantage. More recently, population migration has meant that SCD now has a worldwide distribution and that a substantial number of children are born with the condition in higher-income areas, including large parts of Europe and North and South America. Newborn screening, systematic clinical follow-up and prevention of sepsis and organ damage have led to an increased life expectancy among people with SCD in many such countries; however, in resource-limited settings where the majority continue to be born, most affected children continue to die in early childhood, usually undiagnosed, due to the lack of effective programmes for its early detection and treatment. As new therapies emerge, potentially leading to disease amelioration or cure, it is of paramount importance that the significant burden of SCD in resource-poor countries is properly recognised.
Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.
Free Article
PMID: 25239949 [PubMed - as supplied by publisher]
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7. Am J Hematol. 2014 Sep 19. doi: 10.1002/ajh.23854. [Epub ahead of print]
Factors associated with growth and blood pressure patterns in children with sickle cell anemia: Silent Infarct Transfusion (SIT) Trial Cohort.
Wolf RB1, Saville BR, Roberts DO, Fissell RB, Kassim AA, Airewele G, DeBaun MR.
Author information:
1Vanderbilt University School of Medicine, Vanderbilt University Medical Center Nashville, TN.
Abstract
Individuals with sickle cell anemia (SCA) exhibit delayed growth trajectories and lower blood pressure measurements than individuals without SCA. We evaluated factors associated with height, weight and blood pressure and established reference growth curves and blood pressure tables using data from the Silent Infarct Transfusion (SIT) Trial (NCT00072761). Quantile regression models were used to determine the percentiles of growth and blood pressure measurements. Multivariable quantile regression was used to test associations of baseline variables with height, weight, and blood pressure measurements. Height and weight measurements were collected from a total of 949 participants with median age of 10.5 years (Interquartile range (IQR) 8.2-12.9) and median follow-up time of 3.2 years (IQR 1.8-4.7, range 0-12.9). Serial blood pressure (BP) measurements were collected from a total of 944 and 943 participants, respectively, with median age of 10.6 years (IQR 8.3-12.9 years), and median follow-up time of 3.3 years (IQR 1.7-4.8). Multivariable quantile regression analysis revealed that higher hemoglobin measurements at baseline were associated with greater height (p<0.001), weight (p=0.000), SBP (p<0.001), and DBP (p=0.003) measurements. We now provide new reference values for height, weight and BP measurements are now readily available for medical management.
Copyright © 2014 Wiley Periodicals, Inc., A Wiley Company.
PMID: 25236783 [PubMed - as supplied by publisher]
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8. Hemoglobin. 2014 Sep 15:1-4. [Epub ahead of print]
Adult Sickle Cell Disease Epidemiology and the Potential Role of a Multidisciplinary Comprehensive Care Center in a City with Low Prevalence.
Binding A1, Valentine K, Poon MC, Sayani FA.
Author information:
1Division of Hematology, McGill University , Montreal, Québec , Canada .
Abstract
Abstract The aim of this study was to determine the characteristics of the sickle cell disease population in a city of low prevalence and compare them to those reported in the literature. We performed a retrospective cross-sectional study of all sickle cell disease patients seen in the Calgary Health Region, Calgary, Alberta, Canada from 2006 to 2010. Data on clinical endpoints including emergency department (ED) visits, hospital admissions, transfusions, as well as laboratory parameters were collected. A total of 37 adult sickle cell disease patients were identified. Over 5 years, they were represented by a total of 49.2 ED presentations/year, 29.2 (59.0%) of these requiring admission. Eighty-three percent of these presentations were for acute pain episodes. We concluded that the number of ED visits, hospital admissions and several other parameters in our cohort were similar to those in other centers of higher prevalence. This suggests that guidelines representing regions of high prevalence may be applicable to smaller centers, where patients experience similar clinical outcomes. PMID: 25222043 [PubMed - as supplied by publisher]
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9. J Pediatr. 2014 Sep 10. pii: S0022-3476(14)00715-X. doi: 10.1016/j.jpeds.2014.07.059. [Epub ahead of print]
Noninvasive Buccal Swab Antigen Sample and Molecular Testing Provides Extended Antigen Typing for Patients with Hemoglobinopathies.
Rampersad A1, Hampton K1, Duncan N1, Roberson C1, Slayten J2, Davisson S2, Aronowitz J2, Shapiro A1.
Author information:
1Indiana Hemophilia and Thrombosis Center, Indianapolis, IN.
2Indiana Blood Center Immunohematology Reference Laboratory, Indianapolis, IN.
Abstract
OBJECTIVE:
To demonstrate the feasibility of performing a noninvasive, molecular-based red blood cell (RBC) antigen test on infants and very young children with sickle cell disease as part of a statewide newborn screening follow-up program.
STUDY DESIGN:
A prospective pilot project was conducted using a noninvasive buccal swab and test kit to perform DNA-based, extended RBC phenotyping in 92 children participating in a newborn hemoglobinopathy screening follow-up program. Reported data include the extended panel of antigens detected by molecular analysis compared with unaffected population estimates.
RESULTS:
Molecular-based RBC antigen testing was successful, with extended RBC typing generated for all subjects. Molecular testing detected several rare negative or rare positive phenotypes, demonstrating the utility of obtaining an extended antigen panel.
CONCLUSION:
This study demonstrates the feasibility of performing antigen testing on buccal swab specimens from children with sickle cell disease as part of a newborn screening follow-up program with the aim of allowing specific unit matching to prevent alloimmunization with RBC transfusions. The general applicability of testing may be limited by a lack of uniform insurance coverage for buccal swab testing, however.
Copyright © 2014 Elsevier Inc. All rights reserved.
PMID: 25217842 [PubMed - as supplied by publisher]
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Sickle Cell News for August 2014
MONTHLY BLOOD TRANSFUSIONS REDUCE SICKLE CELL ANEMIA-RELATED BRAIN INJURY IN CHILDREN
NIH-funded study provides hope for children with disease-related brain damage
Regular blood transfusions prevent recurrent blockage of brain blood vessels, a serious neurological side effect that occurs in one third of children with sickle cell anemia, according to a study funded by the National Institutes of Health. The findings appear in the August 21 issue of the New England Journal of Medicine.
In the United States, approximately 100,000 people, primarily African-Americans, live with sickle cell anemia, a genetic disorder in which red blood cells, which should be round, can take on abnormal, crescent-like shapes. These sickle cells are stickier than regular cells and can block blood flow, resulting in pain, organ damage and strokes.
Cerebral infarcts occur when blood vessels in the brain get blocked. Silent cerebral infarcts do not cause any obvious symptoms, so people are unaware that something is wrong. The only way to detect a silent stroke is with magnetic resonance imaging (MRI) scans of the brain, which are not routinely conducted in people with sickle cell anemia. Silent infarcts in children with sickle cell disease are known to be associated with long-term cognitive problems and poor academic performance.
"If scientists detect silent strokes early, young children can benefit from a wide array of educational interventions and can get support from federally mandated educational assistance programs to keep them from falling behind in school," said Michael R. DeBaun, M.D., from Vanderbilt University, Nashville, the lead author and principal investigator for the trial.
Previous studies have demonstrated that blood transfusions may help prevent stroke in patients with sickle cell anemia. Transfusions of healthy blood increase the number of normal red blood cells and make the occurrence of blocked blood vessels less likely. In the current study, Dr. DeBaun and his colleagues investigated whether monthly blood transfusions would help prevent recurrence of silent cerebral infarcts in children with sickle cell anemia who had evidence of a previous incident.
In this multi-center international clinical trial, 1,074 children had MRI scans and 35 percent had silent infarcts. The 196 children with sickle cell anemia who exhibited infarct-like lesions on brain scans were randomized to receive regular blood transfusions or standard medical care. The blood transfusions were administered every month for three years.
The investigators' results show that receiving blood transfusions on a regular basis prevented the recurrence of silent strokes. In the standard medical care group, 14.4 percent of patients experienced a stroke or new silent cerebral infarcts. Among patients who received regular blood transfusions, only 6.1 percent experienced a stroke or new silent cerebral infarct.
"The study provides clear evidence that we may be able to decrease the progression of silent strokes, which occur in 30 percent of children with sickle cell anemia. These results suggest that children who have this disease should be screened early for silent strokes, at least by the time they begin elementary school, to help them manage the disease and to ensure minimal impact on school performance," said Dr. DeBaun.
The researchers noted that this trial included a very intense regimen for the patients, who were as young as 5 years old, and for their families. "One of the reasons we conducted this study was to check if the burden of the blood transfusion therapy, such as monthly doctor's visits, was worth the potential benefits," said Deborah Hirtz, M.D., program director at the NIH's National Institute of Neurological Disorders and Stroke, which provided funding for the study. Some risks linked to blood transfusions include severe allergic reactions and high levels of iron throughout the body.
"The commitment of the children and their parents, many of whom were working poor families, was quite impressive. Despite the burden of a three-year intensive trial, 86 percent of the participants completed all aspects of the trial including 36 months of transfusion therapy, three non-sedated MRI scans, multiple neurology evaluations, two two-hour cognitive testing sessions, and two quality of life assessments," said Dr. DeBaun.
An unexpected result, according to the researchers, was that intelligence measures were not different between the two study groups. Previous studies from this trial and others have shown that silent strokes are associated with a five-point reduction in IQ. This issue will be further explored by the investigators. "The study indicates that screening for silent strokes in children starting school can lead to early detection and prevention of recurrences as well as reduction in other complications of sickle cell anemia such as acute episodes of pain and acute chest syndrome. The results of this trial will make a difference to children with sickle cell anemia and their families," said Dr. Hirtz.
This work was supported by grants from the NINDS (NS042804) and the NIH's National Heart Lung and Blood Institute (HL091759).
The National Institutes of Health awarded Delaware State University and the Nemours Center for Cancer and Blood Disorders with a $10.2 million research grant to conduct comprehensive genetic research on sickle cell disease.
Officials have touted the project, which will establish the Delaware Comprehensive Sickle Cell Research Center, as historic and innovative since it will focus on identifying a genetic mutation to further treatment and care, symptom prevention, fostering strong psychological support for families and ensuring quality of care.
Sickle cell disease is a genetic disorder that attacks the red blood cells, causing them to break down prematurely. That breakdown can lead to anemia (low number of blood cells), infection, pain and eventual organ damage. It is most common among individuals with diverse backgrounds, with ancestors from Africa, the Arabian Peninsula, India and Mediterranean countries or those with Hispanic descent.
Nemours will use $8.4 million of the grant to implement new research training, data recording, conduct clinical trials on pain and inflammation relief using n-3 omega fatty acids and modify a psychosocial assessment tool used to screen children for sickle cell disease.
Additionally, a portion of Nemours' grant will be used to create a three-year pilot study that will vet the children most at risk for developing chronic kidney disease caused by sickle cell.
Down in Dover at DSU, professors received $1.8 million to conduct gene editing research to correct the abnormal hemoglobin causing sickle cells, without harming other cell functions. Another project will also involve growing hematopoietic stem cells on synthetic nanofiber scaffolds to stimulate healthy cell growth. http://www.delawareonline.com/story/news/health/2014/08/14/nemours-dsu-sickle-cell-grant/14058833/
Sickle cell in the Medical Literature
1. Pediatrics. 2014 Aug 25. pii: peds.2014-0917. [Epub ahead of print]
Hydroxyurea and Growth in Young Children With Sickle Cell Disease.
Rana S1, Houston PE2, Wang WC3, Iyer RV4, Goldsmith J5, Casella JF6, Reed CK2, Rogers ZR7, Waclawiw MA5, Thompson B8; for the BABY HUG
Investigators.
Author information:
1Department of Pediatrics and Child Health, Howard University, Washington, District of Columbia; srana@howard.edu.
2Department of Pediatrics and Child Health, Howard University, Washington, District of Columbia;
3St. Jude Children's Research Hospital, Memphis, Tennessee;
4University of Mississippi Medical Center, Jackson, Mississippi;
5National Heart, Lung, and Blood Institute, Bethesda, Maryland;
6Division of Hematology, Department of Pediatrics, Johns Hopkins University, Baltimore, Maryland;
7UT Southwestern Medical Center, Dallas, Texas; and.
8Clinical Trials & Surveys Corporation, Owings Mills, Maryland.
Abstract
BACKGROUND:
Growth impairment is a known complication of sickle cell disease. Effects of hydroxyurea (HU) on growth in very young children are not known.
METHODS:
Height, weight, BMI, and head circumference (HC) were compared with World Health Organization (WHO) standards in BABY HUG, a multicenter, randomized, double-blinded, placebo-controlled 2-year clinical trial of HU in 193 children 9 to 18 months of age. Anthropometric data were closely monitored and converted to z scores by using WHO standardized algorithms for descriptive analyses. The treatment and placebo groups were compared longitudinally by using a mixed model analysis.
RESULTS:
At entry, the z scores of BABY HUG children were higher than WHO norms. After 2 years of HU or placebo treatment, there were no significant differences between the groups, except for the mean HC z scores at study exit (HU: +0.8 versus placebo: +1.0, P = .05). Baseline z scores were the best predictors of z scores at study exit. The absolute neutrophil count, absolute reticulocyte count, and total white blood cell count had significant negative correlations with growth measures.
CONCLUSIONS:
Both groups had normal or near normal anthropometric measures during the study. The HC z scores at study entry and exit were slightly greater than WHO norms. Higher baseline white blood cell count, absolute reticulocyte count, and absolute neutrophil count were associated with poorer growth. The significance of the slightly lower HC in the treatment group at study exit is not clear. Trends toward normalization of weight and height and effects on HC will be monitored in ongoing BABY HUG follow-up studies.
Copyright © 2014 by the American Academy of Pediatrics.
PMID: 25157002 [PubMed - as supplied by publisher]
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2. Br J Haematol. 2014 Aug 22. doi: 10.1111/bjh.13093. [Epub ahead of print]
Hydroxycarbamide treatment in sickle cell disease: estimates of possible leukaemia risk and of hospitalization survival benefit.
Castro O1, Nouraie M, Oneal P.
Author information:
1Center for Sickle Cell Disease, Howard University, Washington, DC, USA.
Abstract
Using health insurance claims databases we compared the frequency/incidence of acute myeloid leukaemia (AML) and inpatient mortality in sickle cell disease (SCD) subjects taking (n = 1051), or not taking (n = 9203) hydroxycarbamide (HC). Patients taking HC were older (median 19 vs. 17 years of age), had a higher proportion of males (53% vs. 38%), and their median hospitalizations per year was five times greater than in SCD patients not on HC (all P < 0·001). No new AML cases occurred in HC-treated paediatric SCD patients. For adults, the new AML incidence with HC exposure was 10·7/10 000 patient years, vs. 4·0/10 000 patient years in subjects not on HC (P = 0·2), a possible AML risk ratio of 3·18. Adjustment for a probable database bias for AML diagnosis/ascertainment lowered the risk ratio to 0·94 (95% confidence interval = 0·16-5·47). Despite their greater disease severity, the inpatient mortality in SCD adults prescribed HC (0·29%) was lower than that of patients not taking the drug (0·42%, P = 0·032). In this SCD population we find no increased risk for AML with HC treatment. If such a risk is eventually proven, it will probably be lower than that for drugs with known AML association. By contrast, HC treatment appears to confer a survival benefit.
© 2014 John Wiley & Sons Ltd.
PMID: 25146244 [PubMed - as supplied by publisher]
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3. Health Qual Life Outcomes. 2014 Aug 22;12(1):125. [Epub ahead of print]
Patient reports of health outcome for adults living with sickle cell disease: development and testing of ASCQ-Me item banks.
Keller S, Yang M, Treadwell MJ, Werner EM, Hassell KL.
Abstract
BackgroundProviders and patients have called for improved understanding of the health care requirements of adults with sickle cell disease (SCD) and have identified the need for a systematic, reliable and valid method to document the patient-reported outcomes (PRO) of adult SCD care. To address this need, the Adult Sickle Cell Quality of Life Measurement System (ASCQ-Me) was designed to complement the Patient Reported Outcome Measurement Information System (PROMIS®). Here we describe methods and results of the psychometric evaluation of ASCQ-Me item banks (IBs).MethodsAt seven geographically-disbursed clinics within the US, 556 patients responded to questions generated to assess cognitive, emotional, physical and social impacts of SCD. We evaluated the construct validity of the hypothesized domains using exploratory factor analysis (EFA), parallel analysis (PA), and bi-factor analysis (Item Response Theory Graded Response Model, IRT-GRM). We used IRT-GRM and the Wald method to identify bias in responses across gender and age. We used IRT and Cronbach¿s alpha coefficient to evaluate the reliability of the IBs and then tested the ability of summary scores based on IRT calibrations to discriminate among tertiles of respondents defined by SCD severity.ResultsOf the original 140 questions tested, we eliminated 48 that either did not form clean factors or provided biased measurement across subgroups defined by age and gender. Via EFA and PA, we identified three subfactors within physical impact: sleep, pain and stiffness impacts. Analysis of the resulting six item sets (sleep, pain, stiffness, cognitive, emotional and social impacts of SCD) supported their essential unidimensionality. With the exception of the cognitive impact IB, these item sets also were highly reliable across a broad range of values and highly significantly related to SCD disease severity.ConclusionASCQ-Me pain, sleep, stiffness, emotional and social SCD impact IBs demonstrated exceptional measurement properties using modern and classical psychometric methods of evaluation. Further development of the cognitive impact IB is required to improve its sensitivity to differences in SCD disease severity. Future research will evaluate the sensitivity of the ASCQ-Me IBs to change in SCD disease severity over time due to health interventions.
PMID: 25146160 [PubMed - as supplied by publisher]
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4. ScientificWorldJournal. 2013;2013:193252. Epub 2013 Sep 19.
Sickle Cell Disease: New Opportunities and Challenges in Africa.
Makani J1, Ofori-Acquah SF2, Nnodu O3, Wonkam A4, Ohene-Frempong K5.
Author information:
1Department of Haematology and Blood Transfusion, Muhimbili University of Health and Allied Sciences, P.O. Box 65001, Dar es Salaam, Tanzania ; Nuffield Department of Medicine, University of Oxford, Oxford, UK.
2Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA ; School of Allied Health Sciences, College of Health Sciences, University of Ghana, Ghana.
3Department of Haematology and Blood Transfusion, College of Health Sciences, University of Abuja, Abuja, Nigeria.
4Division of Human Genetics, Faculty of Heath Sciences, University of Cape Town, South Africa ; Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, Cameroon.
5Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Abstract
Sickle cell disease (SCD) is one of the most common genetic causes of illness and death in the world. This is a review of SCD in Africa, which bears the highest burden of disease. The first section provides an introduction to the molecular basis of SCD and the pathophysiological mechanism of selected clinical events. The second section discusses the epidemiology of the disease (prevalence, morbidity, and mortality), at global level and within Africa. The third section discusses the laboratory diagnosis and management of SCD, emphasizing strategies that been have proven to be effective in areas with limited resources. Throughout the review, specific activities that require evidence to guide healthcare in Africa, as well as strategic areas for further research, will be highlighted. PMID: 25143960 [PubMed - as supplied by publisher]
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5. N Engl J Med. 2014 Aug 21;371(8):699-710. doi: 10.1056/NEJMoa1401731.
Controlled trial of transfusions for silent cerebral infarcts in sickle cell anemia.
DeBaun MR1, Gordon M, McKinstry RC, Noetzel MJ, White DA, Sarnaik SA, Meier ER, Howard TH, Majumdar S, Inusa BP, Telfer PT, Kirby-Allen M, McCavit TL, Kamdem A, Airewele G, Woods GM, Berman B, Panepinto JA, Fuh BR, Kwiatkowski JL, King AA, Fixler JM, Rhodes MM, Thompson AA, Heiny ME, Redding-Lallinger RC, Kirkham FJ, Dixon N, Gonzalez CE, Kalinyak KA, Quinn CT, Strouse JJ, Miller JP, Lehmann H, Kraut MA, Ball WS Jr, Hirtz D, Casella JF. Author information:
1From the Department of Pediatrics, Division of Hematology-Oncology, Vanderbilt-Meharry Center of Excellence in Sickle Cell Disease, Vanderbilt University School of Medicine, Nashville (M.R.D.); Department of Ophthalmology and Visual Sciences, Division of Biostatistics (M.G.), Departments of Radiology and Pediatrics (R.C.M.), Neurology and Pediatrics (M.J.N.), and Psychology (D.A.W.), the Program in Occupational Therapy and Department of Pediatrics Hematology-Oncology (A.A.K.), and the Division of Biostatistics and Department of Internal Medicine (J.P.M.), Washington University School of Medicine, St. Louis; Department of Pediatrics, Division of Hematology-Oncology, Wayne State University, Detroit (S.A.S.); Center for Cancer and Blood Disorders, Children's National Medical Center, Department of Pediatrics, George Washington University Medical Center (E.R.M.), and Department of Pediatrics, Division of Hematology-Oncology, Georgetown University Hospital (C.E.G.) - all in Washington, DC; Department of Pediatrics, Division of Hematology-Oncology, University of Alabama at Birmingham, Birmingham (T.H.H.); Department of Pediatrics, Division of Hematology-Oncology, University of Mississippi Medical Center, Jackson (S.M.); Department of Paediatrics, Evelina Children's Hospital, St. Thomas' Hospital NHS Trust (B.P.D.I.), Department of Pediatric Hematology, Royal London Hospital, Barts Health NHS Trust (P.T.T.), and the Neurosciences Unit, Institute of Child Health, University College London (F.J.K.) - all in London; Hospital for Sick Children, Department of Paediatrics, Haematology-Oncology, University of Toronto, Toronto (M.K.-A.); Division of Hematology-Oncology, Department of Pediatrics, UT Southwestern Medical Center, Dallas (T.L.M.C.); Département Pédiatrie, Hôpital Intercommunal de Creteil, Creteil, France (A.K.); Department of Pediatrics, Division of Hematology-Oncology, Baylor College of Medicine, Houston (G.A.); Department of Pediatrics, Hematology-Oncology, Univer Comment in
More blood for sickle cell anemia? [N Engl J Med. 2014]
Abstract
BACKGROUND:
Silent cerebral infarcts are the most common neurologic injury in children with sickle cell anemia and are associated with the recurrence of an infarct (stroke or silent cerebral infarct). We tested the hypothesis that the incidence of the recurrence of an infarct would be lower among children who underwent regular blood-transfusion therapy than among those who received standard care.
METHODS:
In this randomized, single-blind clinical trial, we randomly assigned children with sickle cell anemia to receive regular blood transfusions (transfusion group) or standard care (observation group). Participants were between 5 and 15 years of age, with no history of stroke and with one or more silent cerebral infarcts on magnetic resonance imaging and a neurologic examination showing no abnormalities corresponding to these lesions. The primary end point was the recurrence of an infarct, defined as a stroke or a new or enlarged silent cerebral infarct.
RESULTS:
A total of 196 children (mean age, 10 years) were randomly assigned to the observation or transfusion group and were followed for a median of 3 years. In the transfusion group, 6 of 99 children (6%) had an end-point event (1 had a stroke, and 5 had new or enlarged silent cerebral infarcts). In the observation group, 14 of 97 children (14%) had an end-point event (7 had strokes, and 7 had new or enlarged silent cerebral infarcts). The incidence of the primary end point in the transfusion and observation groups was 2.0 and 4.8 events, respectively, per 100 years at risk, corresponding to an incidence rate ratio of 0.41 (95% confidence interval, 0.12 to 0.99; P=0.04).
CONCLUSIONS:
Regular blood-transfusion therapy significantly reduced the incidence of the recurrence of cerebral infarct in children with sickle cell anemia. (Funded by the National Institute of Neurological Disorders and Stroke and others; Silent Cerebral Infarct Multi-Center Clinical Trial ClinicalTrials.gov number, NCT00072761, and Current Controlled Trials number, ISRCTN52713285.).
PMID: 25140956 [PubMed - in process]
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6. Platelets. 2014 Aug 20:1-6. [Epub ahead of print]
The effect of prasugrel on ADP-stimulated markers of platelet activation in patients with sickle cell disease.
Jakubowski JA1, Zhou C, Winters KJ, Lachno DR, Howard J, Payne CD, Mant T, Jurcevic S, Frelinger AL 3rd.
Author information:
1Lilly Research Laboratories, Eli Lilly and Company, Indianapolis , IN , USA .
Abstract
Abstract Platelets of patients with sickle cell disease (SCD) show evidence of mild activation in the non-crisis steady state and greater activation during vaso-occlusive crises (VOC). Prasugrel, a potent inhibitor of ADP-mediated platelet activation and aggregation, may be useful in attenuating VOC. We compared platelet responses to ADP stimulation in patients with SCD and healthy subjects before and after treatment with prasugrel. In a phase 1 study, platelet biomarker levels were assessed in 12 adult patients with SCD and 13 healthy subjects before and after 12 ± 2 days of 5.0 or 7.5 mg/day prasugrel. The following were determined in whole blood samples stimulated with 20 µM ADP: (i) percentages of monocytes and neutrophils with adherent platelets (cell-platelet aggregates); (ii) the relative number (mass) of platelets associated with each monocyte and neutrophil as reported by CD61 mean fluorescence intensity (MFI) of the monocyte-platelet and neutrophil-platelet aggregates; (iii) the percentages of platelets positive for surface expression of CD40 ligand (CD40L), P-selectin (CD62p) and activated glycoprotein IIb-IIIa (GPIIb-IIIa); and (iv) the percentages of platelets and monocyte-platelet aggregates positive for surface tissue factor (TF) expression. At baseline, there were no significant differences between cohorts in the percentages of platelets expressing activation biomarkers. Following 12 days of prasugrel administration, the percentages of platelets expressing activation biomarkers following ADP stimulation were reduced in both cohorts, and there were no significant differences between groups. Both patients with SCD and healthy subjects had significant reductions in the monocyte-platelet and neutrophil-platelet aggregate MFI and the percentage of platelets expressing P-selectin and activated GPIIb-IIIa (all p < 0.05). Healthy subjects also had significant reductions in monocyte-platelet aggregate percentages (p = 0.004), neutrophil-platelet aggregate percentages (p = 0.011) and the percentage of CD40L-positive platelets (p = 0.044) that were not observed in patients with SCD. Prasugrel administration to SCD patients attenuates ex vivo ADP-stimulated platelet activation as measured by the percentage of platelets positive for P-selectin and GPIIb-IIIa, thus reducing the proportion of platelets that may participate in aggregates. Furthermore, prasugrel decreases ex vivo ADP-stimulated platelet aggregation with monocytes and neutrophils as measured by the monocyte-platelet and neutrophil-platelet aggregate MFI. This implies that in the presence of prasugrel, fewer platelets adhere to monocytes and neutrophils, which may result in reducing cell-platelet aggregate size. Therefore, reduced platelet reactivity and decreased size of leukocyte-platelet aggregates suggest additional mechanisms by which prasugrel may provide benefit to patients with SCD and support further investigation of possible therapeutic benefits of prasugrel in this population.
PMID: 25140584 [PubMed - as supplied by publisher]
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7. Stroke. 2014 Aug 19. pii: STROKEAHA.114.006110. [Epub ahead of print]
Sickle Cell Trait and Incident Ischemic Stroke in the Atherosclerosis Risk in Communities Study.
Caughey MC1, Loehr LR2, Key NS2, Derebail VK2, Gottesman RF2, Kshirsagar AV2, Grove ML2, Heiss G2.
Author information:
1From the Departments of Medicine (M.C.C., N.S.K., V.K.D., A.V.K.) and Epidemiology (M.C.C., L.R.L., G.H.), University of North Carolina at Chapel Hill; Department of Neurology, Johns Hopkins University School of Medicine; Baltimore, MD (R.F.G.); and School of Public Health, Human Genetics Center, The University of Texas Health Science Center, Houston (M.L.G.). caughey@med.unc.edu.
2From the Departments of Medicine (M.C.C., N.S.K., V.K.D., A.V.K.) and Epidemiology (M.C.C., L.R.L., G.H.), University of North Carolina at Chapel Hill; Department of Neurology, Johns Hopkins University School of Medicine; Baltimore, MD (R.F.G.); and School of Public Health, Human Genetics Center, The University of Texas Health Science Center, Houston (M.L.G.).
Abstract
BACKGROUND AND PURPOSE:
Numerous case reports describe stroke in individuals with sickle cell trait (SCT) in the absence of traditional risk factors for cerebrovascular disease. To date, no prospective epidemiological studies have investigated this association.
METHODS:
A population-based sample of blacks (n=3497; mean age=54 years; female=62%) was followed from 1987 to 2011 in the Atherosclerosis Risk in Communities (ARIC) study, contributing a total of 65 371 person-years. Hazard ratios and incidence rate differences for ischemic stroke were estimated, contrasting SCT to homozygous hemoglobin A. Models were adjusted for age, sex, smoking, diabetes mellitus, hypertension, total cholesterol, atrial fibrillation, and coronary heart disease.
RESULTS:
SCT was identified in 223 (6.4%) participants. During a median follow-up of 22 years, 401 subjects experienced incident stroke (89% ischemic). Incident ischemic stroke was more frequent among those with SCT (13%) than those with homozygous hemoglobin A (10%). SCT was associated with an ischemic stroke hazard ratio of 1.4 (1.0-2.0) and an incidence rate difference amounting to 1.9 (0.4-3.8) extra strokes per 1000 person-years.
CONCLUSIONS:
We observed an increased risk of ischemic stroke in blacks with SCT. Further investigation of the incidence and pathophysiology of stroke in patients with SCT is warranted.
© 2014 American Heart Association, Inc.
PMID: 25139879 [PubMed - as supplied by publisher]
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8. Eur J Haematol. 2014 Aug 19. doi: 10.1111/ejh.12435. [Epub ahead of print]
Deferasirox For Iron Chelation In Multi-Transfused Children With Sickle Cell Disease; Long-Term Experience In The East London Clinical Haemoglobinopathy Network.
Tsouana E1, Kaya B, Gadong N, Hemmaway C, Newell H, Simmons A, Whitmarsh S, Telfer P.
Author information:
1Department of Paediatric Haematology, Royal London Hospital, London.
Abstract
Deferasirox (DFX) has been licensed for iron chelation in patients with sickle cell disease (SCD), but there is limited data on its long-term efficacy and safety in children. This retrospective study included 62 regularly transfused children managed in the East London and Essex Clinical Haemoglobinopathy Network (mean age 9.2 ±3.2 years). Efficacy measurements consisted of monthly serum ferritin (SF) and annual R2 MRI-estimated liver iron concentration (LIC), and safety markers included serum creatinine and alanine aminotransferase (ALT). The mean duration of DFX treatment was 2.5±1.4 years, and mean dose at 36 months was 25 mg/kg/day. Mean SF at initiation of treatment was 2542±952ng/ml and increased to 4691±2255ng/ml at 36 months (p=0.05). Mean LIC on first scan was 10.3mg/g dry weight, and did not decrease significantly on follow-up scans. There was a significant correlation between relative change in LIC and in SF (R2 =0.66, p<0.001). Reversible transaminitis episodes, probably due to drug-induced hepatitis, were noted in 53% of patients. Responses to an adherence and acceptability questionnaire indicated that more than 50% of children had difficulties in taking DFX, commonly because of unpleasant taste. Our results show that more than 50% of children with SCD have inadequate control of iron overload with DFX. It is not clear whether this is because of frequent dose interruptions, poor tolerability and adherence, or poor efficacy of the drug. We recommend further studies to confirm these findings and to optimize iron chelation in this population. This article is protected by copyright. All rights reserved.
This article is protected by copyright. All rights reserved.
PMID: 25138173 [PubMed - as supplied by publisher]
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9. Hematology. 2014 Aug 18. [Epub ahead of print]
A pilot study of manual chronic partial exchange transfusion in children with sickle disease.
Aloni MN, Lê PQ, Heijmans C, Huybrechts S, Devalck C, Azzi N, Ngalula-Mujinga M, Ferster A.
Abstract
Objective Red cell exchange transfusion is frequently used in the management of patients with sickle cell disease (SCD) either electively or chronically to maintain hemoglobin S (HbS) <30%. The purpose of this retrospective study was to evaluate the results of manual chronic partial exchange transfusion (MCPET) on level of Hb and HbS, on iron load and on the need for chelation, on risk of immunization, monitoring transfusion-transmitted viral infection, and clinical outcome. Methods We reviewed the long-term effect of MCPET in 10 children (six men and four women) with SCD and evaluated the iron balance during a median follow-up of 20 months (range: 6-36) in which 248 exchanges were performed. Results The pre-exchange median Hb value was 9.5 g/dl (range: 7.7-10.9 g/dl) and the median post-exchange value was 9.4 g/dl (range: 8.4-11.1 g/dl).The majority of patients reached an HbS of <50% with a median HbS value of 40.04% (range: 30-54). At start of the MCPET program, the median ferritin was 439 ng/ml (range: 80-1704 ng/ml). In the final evaluation, the median value of ferritin was 531 ng/ml (range: 84-3840 ng/ml). The annual calculated iron balance was 0. 28 ± 0.08 mg/kg/day. MCPET was well tolerated, and adverse effects were limited. Discussion MCPET in children with SCD is safe to prevent iron overload, and is effective and easy to use in our cohort. Conclusion Indication for chronic exchange blood transfusion is essential for patients with SCD with recurrent and frequent crises who do not respond to hydroxyurea. However, there is no consensual study for the period at which chronic transfusion can safely be stopped and further research in large population of patients with SCD will need to clarify this question.
PMID: 25133935 [PubMed - as supplied by publisher]
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10. Pediatr Blood Cancer. 2014 Aug 17. doi: 10.1002/pbc.25177. [Epub ahead of print]
Improved hydroxyurea effect with the use of text messaging in children with sickle cell anemia.
Estepp JH1, Winter B, Johnson M, Smeltzer MP, Howard SC, Hankins JS.
Author information:
1Departments of Hematology, St. Jude Children's Research Hospital, Memphis, Tennessee.
Abstract
BACKGROUND:
In children with sickle cell anemia (SCA), hydroxyurea reduces morbidity, but adherence is frequently suboptimal. Because most families of children with SCA have access to cellular telephone services, we assessed the impact of text messaged reminders as a tool to improve adherence to hydroxyurea.
PROCEDURE:
All patients <19 years of age with HbSS or HbSβ0 thalassemia who were treated with hydroxyurea at a maximal tolerated dosage (MTD) at St. Jude Children's Research Hospital Comprehensive Pediatric Sickle Cell Program and who received automated text message reminders (SIMON®) were retrospectively identified. Laboratory parameters, hospitalizations, and medication possession ratios (MPR) prior to and after initiation of SIMON® were compared to assess the impact of SIMON®.
RESULTS:
Of the 97.3% of families with access to a cell phone, 91% elected to receive text message reminders. Among 55 children receiving hydroxyurea at MTD, laboratory parameters reflected waning medication compliance during the 12 months prior to SIMON®. Following initiation of SIMON®, children had higher mean corpuscular volumes, hemoglobin levels and fetal hemoglobin percentages and lower absolute reticulocyte counts and bilirubin levels, suggesting improved medication adherence. Hospitalizations were uncommon before and after SIMON®, and medication possession ratios (MPRs) were high before and after SIMON®, neither was significantly changed.
CONCLUSIONS:
SIMON® was feasible and improved hematologic parameters in children with SCA receiving hydroxyurea at a MTD. Future work will include extension of this technology to children with other chronic medical conditions who require daily use of medication. Pediatric Blood Cancer © 2014 Wiley Periodicals, Inc.
© 2014 Wiley Periodicals, Inc.
PMID: 25132074 [PubMed - as supplied by publisher]
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11. J Clin Psychol Med Settings. 2014 Aug 13. [Epub ahead of print]
Predictors of Health-Related Quality of Life over Time Among Adolescents and Young Adults with Sickle Cell Disease.
Jackson JL1, Lemanek KL, Clough-Paabo E, Rhodes M.
Author information:
1Center for Biobehavioral Health, Nationwide Children's Hospital, Columbus, OH, USA.
Abstract
Little is known about what factors affect the health-related quality of life (HRQoL) of adolescents and young adults (AYAs) with sickle cell disease (SCD), and how their HRQoL changes over time. This re ...
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Jimi Olaghere said sickle cell anemia has given him “a lifetime of pain,” but has also pointed his company in a fresh direction.
Olaghere knew his business needed a change after a recent sickle cell-related trip to the emergency room. While he waited for treatment, he saw #teamsicklecell scroll by on his Instagram page. The tech entrepreneur and owner of Geek Supply Company said it was then that he decided to use his tech skills to help combat issues surrounding his debilitating disease.
“After stumbling across the #teamsicklecell hashtag, I was engaged and I was excited. I wanted to build upon that and create awareness,” Olaghere said. “Right now there is really no one out there talking about [sickle cell] and I think we need to broadcast the message that it is okay to talk about it. As a child I was not encouraged to speak about how it affected me and even as an adult I have been afraid to talk about it because I didn’t want people to think that I couldn’t work or do regular things. We need to change how people think.”
At the time, the Newark resident was co-running Brick City Tech and owned the startup Geek Cook USA. Geek Cook brought design products in from China through New York and New Jersey and had air, road and rail distribution.
While his product line remains largely the same, his company name changed to Geek Supply Company and he has been donating 10 percent of its profits to the Martin Center Sickle Cell Initiative in Indianapolis since this past Spring. The changes to Geek Supply Co. have taken form over the last year, and while Olaghere said the feedback so far has been “a bit slow,” he is confident that over time his efforts will pay off.
“I switched from a business-to-business [model] to a business- to-consumer [model] and now a portion of my profits will go to sickle cell charities,” Olaghere said. “I’ve never run a charity and I wasn’t sure how to create and encourage research so the Initiative really stepped in and outlined how they would spend and improve funds received from us and how this money can improve the lives of those suffering from sickle cell.”
While there are several U.S. and global organizations that help create awareness and education for sickle cell, patients can certainly use any help they can get. According to The Ultimate Health Disparity, a research paper written by Gary A. Gibson, sickle cell is one of the most common genetically transmitted diseases, with two million people worldwide and approximately 100,000 in the United States carrying the disease. While sickle cell is not racially motivated, it does occur most frequently in people who live in or have descended from Africa, South and Central America, the Caribbean, and the Middle East. Every year 1,400 U.S. children are born with this disease, while in Ghana there are 14,000. In Nigeria the number jumps further to 150,000. Without a cure for sickle cell, children and adults around the globe continue to suffer with little more than ibuprofen to ease their pain.
Dr. Michael DeBaun, director at Vanderbilt-Miharry Center for Excellence in Sickle Cell Disease, weighed in on the discussion and said that while the disease does affect a percentage of those of Caucasian descent, the ailment “disproportionately affects people of color.” With symptoms that affect every organ and bone in the body, the disease can cause an immense amount of pain in child and adult patients alike. With treatment and health care options dwindling for adults with sickle cell in the U.S. and around the world, DeBaun said the problems related to this disease have “become more of a humanitarian issue.”
“Part of the challenge is that sickle cell disproportionately affects African Americans. No one is rallying against this disease. You don’t have entertainers stepping forward to educate the community on this issue. I have tried for 20 years to approach some of the biggest names in our community about doing what Jerry Louis did for the Muscular Dystrophy Associations of America. There has been a resounding deaf ear,” DeBaun said.
“Why is it that our entertainment leaders with so much discretionary income choose not to embrace this disease that disproportionately affects African Americans? While I do think it is a complex issue, I believe there are people that can make a difference in the lives of those living with this disease and could channel money to leverage a greater outcome – and they choose not to.”
DeBaun himself has been a pioneer in the battle against sickle cell and has held a camp in the Midwest region where patients and parents could learn more about the disease and how to manage pain and emotional stress. Most recently, he also started “Sickle Cell Sabbath” in St. Louis and Nashville, where Black congregations are educated about blood donations and trait testing.
“We started Sickle Cell Sabbath to encourage people to donate blood. We have found that most don’t donate because they haven’t been asked and told about the true benefit of savinghttp://images.intellitxt.com/ast/adTypes/icon1.png others. Once they know, they donate willingly and repeatedly,” DeBaun said. “We also supply sickle cell trait testing because individuals that are at risk to have children with sickle cell should be empowered with information. We have to try to take charge and make a difference. This has to start today if we want to have an impact 20 years from now.”
Olaghere agreed and said that through his philanthropy and donations, there is hope that others will join his initiative and make big changes for the future of the disease.
“At the end of the day I just felt like I had to do something. All my life I have been so frustrated by my lack of care and I have always felt so misunderstood. I spent part of my life living in Nigeria – and it’s even harder to get care there,” he said. “I want to build a community around this disease and create awareness. The conversation starts with us and hopefully if businesses see us doing this, they will also come on board. I know that if we all can come together there is hope that we can help change some of these practical problems – one business at a time.”
- See more at: http://madamenoire.com/451495/wheres-celebrity-support-unusual-business-standing-sickle-cell-anemia/#sthash.qhNwYQjn.dpuf
Nonmyeloablative Allogeneic HSCT for Sickle Cell Disease
Myeloablative allogeneic hematopoietic stem cell transplantation (HSCT) is curative for children with sickle cell disease, but toxicity may be prohibitive in adults. In a study that involved 30 patients aged 16 to 65 years with severe sickle cell disease or thalassemia, Hsieh and colleagues assessed the efficacy and safety of a low-intensity, nonmyeloablative regimen and HSCT from human leukocyte antigen–matched siblings. The authors report that at a median follow-up of 3.4 years, 29 patients were alive and 26 patients had long-term stable donor engraftment and normalized hemoglobin. In an Editorial, King and DiPersio discuss the potential to cure sickle cell disease in adults.
Editorial and Related Article
Author Video Interview
Congressmen Davis and Burgess Introduce the Sickle Cell Treatment Reauthorization Act of 2014
Congressman Danny K. Davis and Michael C. Burgess support Sickle Cell Treatment Reauthorization Act of 2014! The bill helps to ensure the nation's programs continue to improve life, provide treatment and educate all about sickle cell disease. It also calls for 25 fully funded Sickle Cell Treatment Centers throughout the US.
Baltimore, MD, July 25, 2014 --(PR.com)-- Representatives Danny K. Davis (D-IL) and Michael C. Burgess (R-TX) revealed bipartisan legislation to renew the nation’s programs for research, surveillance, prevention and treatment of Sickle Cell Disease (SCD) for another four years.
Sickle Cell Newborn Screening Program Update
We would like to invite you to join us for a community forum to discuss the Sickle Cell Disease Newborn Screening Program. During this session, you will learn HRSA’s vision for the direction of the program and have the opportunity to provide your feedback.
We will host the same session on two occasions; you are welcome to attend either or both sessions; however, the presentation will be the same. Below and attached are additional details.
Webinar Information
Date: Wednesday, July 30 and Wednesday, August 6, 2014
Time: 3:00-4:30pm (ET)
Location: Online Webinar: [log in information available when registering]
If you have any questions, please contact me at smerchant@nichq.org.
New Video link – Be the Match for Sickle Cell Disease
Link from CBS CW 46 in Atlanta https://vimeo.com/99527982
Sickle cell in the Medical Literature
1. Care coordination and unmet specialty care among children with special health care needs.
Boudreau AA, Perrin JM, Goodman E, Kurowski D, Cooley WC, Kuhlthau K.
Abstract
OBJECTIVES:
Care coordination and the medical home may ensure access to specialty care. Children with special health care needs (CSHCN) have higher rates of specialty care use and unmet need compared with the general pediatric population. We hypothesized that care coordination, regardless of whether it was provided in a medical home, would decrease unmet specialty care needs among CSHCN and that the effect of care coordination would be greater among low-income families. METHODS:
Secondary data analysis of participants in the 2009–2010 National Survey of CSHCN who reported unmet specialty care needs and for whom care coordination and medical home status could be determined (n = 18 905). Logistic regression models explored the association of unmet need with care coordination and medical home status adjusting for household income.
RESULTS:
Approximately 9% of CSHCN reported having unmet specialty care needs. Care coordination was associated with reduced odds of unmet specialty care need (without a medical home, odds ratio: 0.63, 95% confidence interval: 0.47–0.86; within a medical home, odds ratio: 0.22, 95% confidence interval: 0.16–0.29) with a greater reduction among those receiving care coordination within a medical home versus those receiving care coordination without a medical home. We did not find differences in the impact of care coordination by percentage of the federal poverty level.
CONCLUSIONS:
Care coordination is associated with family report of decreased unmet specialty care needs among CSHCN independent of household income. The effect of care coordination is greater when care is received in a medical home.
decreased avoidable hospitalizations. Pediatr Blood Cancer © 2014 Wiley Periodicals, Inc.
© 2014 Wiley Periodicals, Inc.
PMID: 24962217 [PubMed - as supplied by publisher]
Related citations
1. Emerg Med Clin North Am. 2014 Aug;32(3):629-647. doi: 10.1016/j.emc.2014.04.011. Epub 2014 Jun 7.
Sickle Cell Disease in the Emergency Department.
Lovett PB1, Sule HP2, Lopez BL1.
Abstract
Acute painful episodes are the most common reason for emergency department visits among patients with sickle cell disease (SCD). Early and aggressive pain management is a priority. Emergency providers (EPs) must also diagnose other emergent diagnoses in patients with SCD and differentiate them from vaso-occlusive crisis. EPs should be aware of cognitive biases that may misdirect the diagnostic process. Administration of intravenous fluids should be used judiciously. Blood transfusion may be considered. Coordination of care with hematology is an important part of the effective emergency department and long-term management of patients with SCD.
Copyright © 2014 Elsevier Inc. All rights reserved.
PMID: 25060254 [PubMed - as supplied by publisher]
2. JAMA. 2014 Jul 2;312(1):48-56. doi: 10.1001/jama.2014.7192.
Nonmyeloablative HLA-Matched Sibling Allogeneic Hematopoietic Stem Cell Transplantation for Severe Sickle Cell Phenotype.
Hsieh MM1, Fitzhugh CD1, Weitzel RP1, Link ME1, Coles WA1, Zhao X2, Rodgers GP1, Powell JD3, Tisdale JF1.
Abstract
IMPORTANCE:
Myeloablative allogeneic hematopoietic stem cell transplantation (HSCT) is curative for children with severe sickle cell disease, but toxicity may be prohibitive for adults. Nonmyeloablative transplantation has been attempted with degrees of preparative regimen intensity, but graft rejection and graft-vs-host disease remain significant.
OBJECTIVE:
To determine the efficacy, safety, and outcome on end-organ function with this low-intensity regimen for sickle cell phenotype with or without thalassemia. DESIGN, SETTING, AND PARTICIPANTS:
From July 16, 2004, to October 25, 2013, 30 patients aged 16-65 years with severe disease enrolled in this nonmyeloablative transplant study, consisting of alemtuzumab (1 mg/kg in divided doses), total-body irradiation (300 cGy), sirolimus, and infusion of unmanipulated filgrastim mobilized peripheral blood stem cells (5.5-31.7 × 106 cells/kg) from human leukocyte antigen-matched siblings.
MAIN OUTCOMES AND MEASURES:
The primary end point was treatment success at 1 year after the transplant, defined as a full donor-type hemoglobin for patients with sickle cell disease and transfusion independence for patients with thalassemia. The secondary end points were the level of donor leukocyte chimerism; incidence of acute and chronic graft-vs-host disease; and sickle cell-thalassemia disease-free survival, immunologic recovery, and changes in organ function, assessed by annual brain imaging, pulmonary function, echocardiographic image, and laboratory testing.
RESULTS:
Twenty-nine patients survived a median 3.4 years (range, 1-8.6), with no nonrelapse mortality. One patient died from intracranial bleeding after relapse. As of October 25, 2013, 26 patients (87%) had long-term stable donor engraftment without acute or chronic graft-vs-host disease. The mean donor T-cell level was 48% (95% CI, 34%-62%); the myeloid chimerism levels, 86% (95% CI, 70%-100%). Fifteen engrafted patients discontinued immunosuppression medication with continued stable donor chimerism and no graft-vs-host disease. The normalized hemoglobin and resolution of hemolysis among engrafted patients were accompanied by stabilization in brain imaging, a reduction of echocardiographic estimates of pulmonary pressure, and allowed for phlebotomy to reduce hepatic iron. The mean annual hospitalization rate was 3.23 (95% CI, 1.83-4.63) the year before, 0.63 (95% CI, 0.26-1.01) the first year after, 0.19 (95% CI, 0-0.45) the second year after, and 0.11 (95% CI, 0.04-0.19) the third year after transplant. For patients taking long-term narcotics, the mean use per week was 639 mg (95% CI, 220-1058) of intravenous morphine-equivalent dose the week of their transplants and 140 mg (95% CI, 56-225) 6 months after transplant. There were 38 serious adverse events: pain and related management, infections, abdominal events, and sirolimus related toxic effects. CONCLUSIONS AND RELEVANCE:
Among 30 patients with sickle cell phenotype with or without thalassemia who underwent nonmyeloablative allogeneic HSCT, the rate of stable mixed-donor chimerism was high and allowed for complete replacement with circulating donor red blood cells among engrafted participants. Further accrual and follow-up are required to assess longer-term clinical outcomes, adverse events, and transplant tolerance.
TRIAL REGISTRATION:
clinicaltrials.gov Identifier: NCT00061568.
PMID: 25058217 [PubMed - in process]
Related citations
3. J Pain Symptom Manage. 2014 Jul 21. pii: S0885-3924(14)00361-3. doi: 10.1016/j.jpainsymman.2014.06.007. [Epub ahead of print]
Sickle Cell Disease Patients With and Without Extremely High Hospital Use: Pain, Opioids, and Coping.
Brown SE1, Weisberg D2, Balf-Soran G2, Sledge W2.
Abstract
CONTEXT:
Patients with sickle cell disease (SCD) and extremely high hospital use (EHHU) encounter significant challenges in pain management because of opioid medication use for pain and providers' concerns about addiction.
OBJECTIVES:
To characterize engagement with the health care system surrounding opioid pain management among SCD patients with EHHU by comparing their experiences with low hospital-utilizing patients and their medical providers' perspectives.
METHODS:
One-on-one, semi-structured qualitative interviews with patients and medical providers were audiotaped and transcribed. Participants were eight SCD patients with EHHU, matched by age, gender, and hemoglobinopathy type with eight SCD patients with low hospital use, and five providers identified by patients with EHHU as important to their care. A multidisciplinary team conducted chart review, created narrative summaries from the interviews and used qualitative software to code transcripts based on themes.
RESULTS:
High and low hospital-utilizing patients had similar descriptions of their experience of pain and pain management with opioids. Patients and medical providers shared concerns about addiction. Low hospital-utilizing patients described themselves as allies using specific interpersonal and symptom-related strategies, whereas high hospital-utilizing patients took a defensive and reactive stance toward their providers, who were similarly defensive about their care.
CONCLUSION:
The prescription of opioid medications for SCD pain management exacerbates issues of distrust in the patient-provider relationship. Such issues dominate patient care in patients with EHHU. Patients with EHHU and providers may learn from the proactive nature of low hospital-utilizing patients' engagement with the health care system as further research and interventions are designed for EHHU.
Copyright © 2014 U.S. Cancer Pain Relief Committee. Published by Elsevier Inc. All rights reserved.
PMID: 25057985 [PubMed - as supplied by publisher]
Related citations
4. Pain Manag Nurs. 2014 Jul 18. pii: S1524-9042(14)00095-2. doi: 10.1016/j.pmn.2014.06.001. [Epub ahead of print]
Self-Efficacy, Transition, and Patient Outcomes in the Sickle Cell Disease Population.
Molter BL1, Abrahamson K2.
.
Abstract
Severe pain is a common symptom of sickle cell disease (SCD). Transitions between adult and pediatric care are a point of particular vulnerability for patients, increasing the risk for poor pain management. The purpose of this literature review was to investigate the relationships among self-efficacy, transition, and SCD health outcomes. A systematic literature search was performed within CINAHL, Academic Search Premier, MEDLINE, and PubMed on published papers between 2003 and 2013. After applying exclusion criteria, 20 articles were used in the final review. Few studies were identified that directly tested the relationship between self-efficacy and SCD outcomes. Although there are few studies on this topic, most demonstrated positive correlations between self-efficacy during transition and positive patient outcomes in the SCD population. Additional studies are needed to support causation. Studies were commonly limited by small sample sizes and attrition. Furthermore, there is a large gap in the literature regarding how self-efficacy can be increased in these patients. Interventions that promote self-efficacy have the potential to improve SCD pain outcomes, but more research is needed to develop interventions to increase these adolescents' self-efficacy. If providers can identify individuals in this population with low self-efficacy, they may be able to intervene early to improve patient outcomes. Most identified studies point to the positive correlation between self-efficacy and positive health outcomes in adolescents with SCD. Self-efficacy has the potential to guide self-care interventions and further research with the SCD population.
Copyright © 2014 American Society for Pain Management Nursing. Published by Elsevier Inc. All rights reserved.
PMID: 25047808 [PubMed - as supplied by publisher]
Related citations
5. BMC Psychiatry. 2014 Jul 21;14(1):207. [Epub ahead of print]
Sleep disturbance, depression and pain in adults with sickle cell disease.
Wallen GR, Minniti CP, Krumlauf M, Eckes E, Allen D, Oguhebe A, Seamon C, Darbari DS, Hildesheim M, Yang L,Schulden JD, Kato GJ, Taylor JG 6th.
Abstract
BACKGROUND:
Sleep disturbance and depression are commonly encountered in primary care. In sickle cell disease, depression is associated with pain, poor treatment
compliance, and lower quality of life. The prevalence of sleep disturbance and its effect upon quality of life in adults with sickle cell disease is unknown. The goal of this study was to determine the prevalence of sleep disturbance and if it is associated with pain and depression in sickle cell disease.
METHODS:
Three hundred twenty eight adults with sickle cell disease enrolled on the Bethesda Sickle Cell Cohort Study were assessed using the Pittsburgh Sleep Quality Index and Beck Depression Inventory II screening measures as a cross-sectional survey. Scores greater than 5 (Pittsburgh Sleep Quality Index) and 16 (Beck Depression Inventory II) defined sleep disturbance and depression, respectively. Clinical and laboratory parameters were also assessed.
RESULTS:
The mean Pittsburgh Sleep Quality Index score was 8.4 (SD +/- 4.2) indicating a 71.2% prevalence of sleep disturbance. The mean Beck Depression Inventory II score was 8.0 (SD +/- 8.9). Sixty five (20.6%) participants had a score indicating depression, and half of these (10.0%) had thoughts of suicide. Both Pittsburgh Sleep Quality Index and Beck Depression Inventory II scores were significantly correlated (p < .001). The number of days with mild/moderate pain (p = .001) and a history of headaches (p = .005) were independently associated with depression by multivariate regression analysis. Patients with sleep disturbance were older (p = .002), had higher body mass index (p = .011), had more days of pain (p = .003) and more frequent severe acute painful events (emergency room visits and hospitalizations) during the previous 12 months (p < .001).
CONCLUSIONS:
More than 70 percent of adults with sickle cell disease had sleep disturbance, while 21 percent showed evidence of clinical depression. Sleep disturbance and depression were correlated, and were most common among those with more frequent pain. Providers caring for adults with sickle cell disease and frequent pain should consider screening for these common co-morbidities. Additional study is needed to confirm these findings and to determine if treatments for pain, depression or sleep disturbances will improve quality of life measures in this patient population.Trial registration: ClinicalTrials.gov identifier: NCT00011648.
Free Article
PMID: 25047658 [PubMed - as supplied by publisher]
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Icon for BioMed Central
6. Pediatr Pulmonol. 2014 Jul 10. doi: 10.1002/ppul.23074. [Epub ahead of print]
Sleep pathology characterization in sickle cell disease: Case-control study.
Mascarenhas MI1, Loureiro HC, Ferreira T, Dias A.
.
Abstract
BACKGROUND:
Children and adolescents with sickle cell disease (SCD) have a higher incidence of sleep pathology and obstructive sleep apnea syndrome (OSAS). The nocturnal hypoxemia is a risk to vaso-occlusive crisis among other SCD morbidities. Our aim was to compare polysomnography (PSG) results in a sample of children with SCD with a sample of children with suspected OSAS without SCD.
DESIGN AND METHODS:
A retrospective study compared clinical and PSG parameters. A descriptive analysis and t-test were done considering P < 0.05 as significant. RESULTS:
PSG was done in 65 children with SCD and 65 control-children. Control sample was selected to be equal to SCD sample considering gender (53.8% were male), age (mean age was 9.4 years (SD ± 4.6) and AHI (mean 3.57 events/hr). Mean efficiency, latency and percentage of sleep phases in both groups showed no statistically significant differences. Mean SpO2 and minimum SpO2 were lower in SCD group and it was statistically significant (P < 0.01). Enuresis was more frequent in the SCD children group (35.4% vs. 6.2%, P < 0.01).
CONCLUSION:
Comparing children with and without SCD, sleep architecture was similar in both groups and minimum SpO2 was significantly lower in SCD children although both groups had a similar AHI. This is an important issue in these children, so it is essential to have a sleep evaluation in order to prevent complications and co-morbidities. Pediatr Pulmonol. © 2014 Wiley Periodicals, Inc.
© 2014 Wiley Periodicals, Inc.
PMID: 25045078 [PubMed - as supplied by publisher]
Related citations
Icon for John Wiley & Sons, Inc.
7. Br J Haematol. 2014 Jul 14. doi: 10.1111/bjh.13031. [Epub ahead of print]
Regular automated red cell exchange transfusion in the management of pulmonary hypertension in sickle cell disease.
Tsitsikas DA1, Seligman H, Sirigireddy B, Odeh L, Nzouakou R, Amos RJ.
Author information:
1Haemoglobinopathy Service, Department of Haematology, Homerton University Hospital NHS Foundation Trust, London, UK.
Dimitris.Tsitsikas@homerton.nhs.uk.
PMID: 25041505 [PubMed - as supplied by publisher]
Related citations
Icon for Blackwell Publishing
8. J Law Med Ethics. 2014 Jun;42(2):139-46. doi: 10.1111/jlme.12129.
Treating pain in sickle cell disease with opioids: clinical advances, ethical pitfalls.
Smith WR.
Author information:
Professor in the Division of General Internal Medicine and the Principal Investigator for the VCU Basic and Translational Research Program in Sickle Cell Disease at the VCU Sickle Cell Disease Outcomes Research Center, SCD Clinical Research Network.
Abstract
This article explores the ethical principles of prescribing in Sickle Cell Disease. The first two sections of the article provide detailed scientific justification for the last section of the manuscript, which explores and discusses the ethical principles.
© 2014 American Society of Law, Medicine & Ethics, Inc.
PMID: 25040377 [PubMed - in process]
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Icon for Blackwell Publishing
9. J Law Med Ethics. 2014 Jun;42(2):135-8. doi: 10.1111/jlme.12128.
Prevention of stroke in sickle cell anemia.
Adams RJ.
Author information:
University Eminent Scholar, Professor of Neuroscience, and SmartState Endowed Chair at the South Carolina Center for Economic Excellence in Stroke at the Medical University of South Carolina in Charleston, SC.
Abstract
The risk of stroke for a child with SCD is many times greater than that of a healthy child without SCD or heart disease. There is a technique that allows the identification of the children with SCD who have high risk even within this relatively high-risk group. And there is a highly effective preventive treatment. While this would on the surface appear to be a straightforward medical decision, it is not. One must weigh the benefits of preventing permanent brain damage against the risks of infection from transfused blood, iron overload, which is the result of the frequent transfusions, and rare transfusion reactions. © 2014 American Society of Law, Medicine & Ethics, Inc.
PMID: 25040376 [PubMed - in process]
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10.
Eur J Haematol. 2014 Jul 10. doi: 10.1111/ejh.12411. [Epub ahead of print]
Sickle Cell Disease in children: chronic complications and search of predictive factors for adverse outcomes.
Silva IV1, Reis AF, Palaré MJ, Ferrão A, Rodrigues T, Morais A.
Author information:
1Department of Paediatrics, Hospital Vila Franca de Xira, Portugal.
Abstract
BACKGROUND:
Sickle cell disease (SCD) has extremely variable phenotypes and several factors have been associated with the severity of the disease OBJECTIVES: To analyse the chronic complications of SCD and look for predictive risk factors for increased severity and number of complications METHODS: Retrospective study including all children followed for SCD in the Paediatric Haematology Unit of a tertiary hospital in Portugal, who completed 17 years old between the years 2004 to 2013 RESULTS: We identified 44 patients, 55% female and 98% black. Chronic complications occurred in 80% of cases. Slight dilatation of the left ventricle was the most frequent complication (47.7%), followed by respiratory function disturbs (43.2%), microlithiasis or cholelithiasis (40.9%), increased flow velocity of cerebral arteries (31.8%), enuresis, delayed puberty and bone abnormalities (6.8% each), sickle cell retinopathy and leg ulcer (4.6% each) and recurrent priapism (2.3%). We identified a statistically significant association between leukocytes >15000/μL and a higher number of hospitalizations (p<0.001) and chronic complications of the disease (p=0.035). The occurrence of dactylitis in first year of life was also significantly associated with a higher number of hospitalizations (p=0.004) and chronic complications (p=0.018). The presence of α-thalassemia was associated with a lower number of chronic complications (p=0.036) CONCLUSIONS: Leucocytosis and dactylitis in the first year of life can be predictors of SCD severity while the presence of α-thalassemia can be protective. The determination of early predictors of chronic complications of SCD may improve the comprehensive care of these patients. This article is protected by copyright. All rights reserved.
This article is protected by copyright. All rights reserved.
PMID: 25039473 [PubMed - as supplied by publisher]
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Sickle Cell News for June 2014
Incorporation of Patient Perspective on Disease and Treatment Options Critical in Drug Development and Review
06.18.14 | By Kristin Van Goor http://www.phrma.org/catalyst/first-technology-pilot-program-shares-perspective-of-sickle-cell-disease-community-with-fda For the first Patient-Focused Drug Development pilot project, Genetic Alliance, in collaboration with PhRMA, partnered with four community-based organizations concerned with patient experience and their needs and treatment goals for sickle cell disease: North Alabama Sickle Cell Foundation, Inc.; Sickle Cell Disease Association of America Southern Connecticut; William E. Proudford Sickle Cell Fund; and Citizens for Quality Sickle Cell Care. Sickle cell disease, a genetic disease, affects approximately 100,000 Americans and millions of people throughout the world. Sickle cell disease is a major public health concern and the need for innovative medicines to treat this disease is great. It is hoped that the information provided by patients and their families and gathered by Genetic Alliance, in partnership with the community-based groups, will further the understanding of sickle cell disease, the daily experience of and challenges for patients with the disease, and the patient perspective on the need for new treatment options. Using the PEER system, we were able to engage a diverse group of individuals with sickle cell disease and their families. The PEER system allows each participant to select who can access their data and allows them to modify the access over time as their preferences change. In addition, participants were able to not only address the questions put forward by the Food and Drug Administration (FDA) but also able to propose new questions and issues that are important to the community.
The information gathering process engaged more than 120 individuals across the country. The top two symptoms experienced by the participants included pain and fatigue or tiredness. More than half of those surveyed reported that symptoms affected their ability to sleep through the night, to participate in physical activity, and to withstand weather changes. Symptoms also impacted the ability to complete tasks at home, enjoy life, and/or attend work or school. On an individual’s worst days, any type of physical activity or activity related to cognition was affected. Of note, because individuals do not see themselves as sickle cell patients per se, respondents focused more on how treatments affect them, rather than how the disease affects them. Nearly half of participants reported fatigue as a side effect of their treatment plan that negatively impacts their daily life the most, followed by pain, constipation and insomnia. Participants indicated that being treated like a drug seeker was the most common problem when trying to comply with their prescribed treatment plan. Individuals also noted the frequent clinic visits and blood draws as problems.
A great majority (89%) of individuals would either agree or possibly agree to participate in a clinical trial even if the trial would not directly benefit themselves. However, if participation in the clinical trial required the individual to stop their current treatment, the willingness to join a clinical trial drops by approximately ten per cent. Factors that would improve clinical trial participation included being matched with another trial participant for support (87%), a clear explanation of the value of the trial (77%), receiving a summary of the outcome (65%), and frequent communications about trial milestones (56%). The sickle cell disease community is passionate about finding efficacious treatments for sickle cell disease. They are committed to working with industry and federal agencies, such as FDA and the National Institutes of Health, to achieve that goal within a participatory and patient–centered framework achieved through partnerships with individuals affected by the specific disease being targeted for drug development. Toward that end, they are willing to share clinical data about themselves and their disease. However, our work shows that they want to participate fully in the data collection in a dynamic manner that is mindful of privacy.
- See more at: http://www.phrma.org/catalyst/first-technology-pilot-program-shares-perspective-of-sickle-cell-disease-community-with-fda#sthash.NHY418uq.dpuf
The survey is available through the websites of Sickle Cell Disease Advocacy organizations: http://www.scdaaofsouthernct.org/
The Sickle Cell Disease Association of America is kicking off a new campaign to build participation in World Sickle Cell Awareness Day which takes place on June 19, 2014. See the PDF link by clicking here
A new sickle cell disease clinic at the University of Mississippi Medical Center will help patients get swift, specialized care to relieve their chronic and often
excruciating pain - http://www.clarionledger.com/story/news/2014/06/22/ummc-opens-clinic-sickle-cell-patients/11247285/
Young Soccer Fan With Sickle Cell Anemia Goes to World Cup, Thanks to Make-a-Wish http://www.nbcnewyork.com/news/local/Brooklyn-Soccer-Fan-Sickle-Cell-Anemia-World-Cup-Brazil-Make-a-Wish-264066041.html
Free content from across BMJ to mark World Sickle Cell Day
We've selected a number of our products to showcase for the rest of the month to mark World Sickle Cell Day. Read on for free access to journal content, the latest haematology jobs from BMJ Careers and information on our Sickle cell anaemia monograph. See the link http://journals.bmj.com/site/marketing/landing-pages/Sicklecellday_2014.xhtml
New Audio Link - Educate And Ask: Key To Living With Sickle Cell Disease http://wvpublic.org/post/educate-and-ask-key-living-sickle-cell-disease
New Video link – Be the Match for Sickle Cell Disease
Link from CBS CW 46 in Atlanta https://vimeo.com/99527982
Sickle cell in the Medical Literature
1. Pediatr Blood Cancer. 2014 Jun 24. doi: 10.1002/pbc.25024. [Epub ahead of print]
Impact of individualized pain plan on the emergency management of children with sickle cell disease.
Krishnamurti L1, Smith-Packard B, Gupta A, Campbell M, Gunawardena S, Saladino R.
Author information:
1Division of Hematology/Oncology Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.
Abstract
BACKGROUND:
Vaso-occlusive crisis (VOC) the hallmark of sickle cell disease (SCD) is often treated inadequately in the emergency department (ED). We hypothesized that pain management plans individualized for each patient can improve pain management and lead to high levels of patient satisfaction.
PROCEDURE:
Starting in 2002, we treated all patients with SCD reporting to Children's Hospital of Pittsburgh (CHP) ED with VOC using a structured algorithm. We recorded regimens used successfully for each patient as an "individualized pain plan" and implemented it during subsequent VOC visits and adjusted it to patient response. We compared rates of hospitalization following an ED visit with VOC and readmission within 1 week after discharge for CHP with that of four comparable hospitals from Pediatric Health Information (PHIS) database. Patients and parents completed surveys of satisfaction with pain management and with care.
RESULTS:
Between 2002 and 2008 there was a greater decline in the rate of admission of patients presenting to the ED at CHP (78% to 52%) as compared to PHIS (71% to 68%), (P < 0.05) and readmission rates at CHP (7.3% to 3.2%) as compared to PHIS (6.5% to 5.1%) (P < 0.05). Improvement in pain score during ED management was 2.0 or more on a Wong Baker scale of 0-5 (P < 0.01). Participants on average, rated quality of pain management as very good or higher. CONCLUSION:
Individualized pain management plans in the ED are effective in delivering high quality management of VOC and are associated with a high level of patient satisfaction and decreased avoidable hospitalizations. Pediatr Blood Cancer © 2014 Wiley Periodicals, Inc.
© 2014 Wiley Periodicals, Inc.
PMID: 24962217 [PubMed - as supplied by publisher]
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2. Hemoglobin. 2014 Jun 18:1-8. [Epub ahead of print]
Comparison of Patients from Nigeria and the USA Highlights Modifiable Risk Factors for Sickle Cell Anemia Complications.
Akingbola TS1, Tayo BO, Salako B, Layden JE, Hsu LL, Cooper RS, Gordeuk VR, Saraf SL.
Author information:
1Department of Haematology, University of Ibadan , Ibadan, Oyo , Nigeria .
Abstract
Abstract To identify factors that affect manifestations of sickle cell anemia we compared patients 11-30 years of age from University of Ibadan, Ibadan, Oyo, Nigeria (n = 214) and University of Illinois at Chicago, Chicago, IL, USA (n = 209). Paralleling findings in the general populations of the two countries, the Chicago patients were more often overweight or obese as defined by the Centers for Disease Control and Prevention (Atlanta, GA, USA) guidelines, and more often had elevated blood pressure (BP) as defined by the National Heart, Lung, and Blood Institute (NHLBI), Bethesda, MD, USA guidelines. The Ibadan patients did not receive the pneumococcal vaccine or hydroxyurea (HU) therapy as frequently as the Chicago patients. Consistent with lower rates of elevated BP and increased body mass index (BMI), stroke history was less frequent in the Ibadan patients ≥18 years old. Furthermore, in combined analyses, systolic and diastolic BP directly correlated with BMI, and elevated weight status independently associated with history of stroke. Our findings are consistent with the possibility that higher values for BMI and BP in Chicago sickle cell anemia patients may contribute to an increased risk of stroke and highlights the need for measures to reduce these risk factors. On the other hand, lower pneumococcal vaccination and HU therapy rates in Ibadan patients highlights the need for more improved vaccination coverage and for studies to define the role of HU therapy in Africa.
PMID: 24941131 [PubMed - as supplied by publisher]
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3. Blood. 2014 Jun 9. pii: blood-2013-12-545186. [Epub ahead of print]
Magnetic resonance imaging/angiography and transcranial Doppler velocities in sickle cell anemia: results from the SWiTCH trial.
Helton KJ1, Adams RJ2, Kesler KL3, Lockhart A3, Aygun B4, Driscoll C5, Heeney MM6, Jackson SM2, Krishnamurti L7, Miller ST8, Sarnaik SA9, Schultz WH10, Ware RE10.
Author information:
1St. Jude Children's Research Hospital, Memphis, TN, United States; kathleen.helton@stjude.org.
2Medical University of South Carolina, Charleston, SC, United States;
3Rho Inc., Chapel Hill, NC, United States;
4Cohen Children's Medical Center, New Hyde Park, NY, United States;
5Montefiore Medical Center, New York, NY, United States;
6Children's Hospital Boston, Boston, MA, United States;
7Pittsburgh Children's Hospital, Pittsburgh, PA, United States;
8SUNY-Downstate, Brooklyn, NY, United States;
9Wayne State University, Detroit, MI, United States;
10Cincinnati Children's Hospital, Cincinnati, OH, United States.
Abstract
Stroke With Transfusions Changing to Hydroxyurea (SWiTCH) compared standard (transfusions/chelation) to alternative (hydroxyurea/phlebotomy) treatment to prevent recurrent stroke and manage iron overload in children chronically transfused over seven years before enrollment. Standardized brain magnetic resonance imaging/ angiography (MRI/MRA) and transcranial Doppler (TCD) exams were performed at entry and exit with central blinded review. A novel MRA vasculopathy grading scale demonstrated frequent severe baseline left/right vessel stenosis (53%/41% ≥Grade 4); 31% had no vessel stenosis on either side. Baseline parenchymal injury was prevalent (85%/79% subcortical, 53%/37% cortical, 50%/35% subcortical and cortical). Most children had low or uninterpretable baseline middle cerebral artery TCD velocities, which were associated with worse stenoses (IRR=5.1, p=<0.0001 and IRR=4.1, p<0.0001) than normal velocities; only 2-12% had any conditional/abnormal velocity. Adjudicated stroke (7) and TIA (19 in 11 Standard/8 Alternative Arm subjects) had substantial parenchymal injury/vessel stenosis. At exit, one child (Alternative Arm) had a new silent infarct, another had worse stenosis. SWiTCH neuroimaging data document severe parenchymal and vascular abnormalities in children with SCA and stroke, and support concerns about chronic transfusions lacking effectiveness for preventing progressive cerebrovascular injury. The novel SWiTCH vasculopathy grading scale warrants validation testing and consideration for use in future clinical trials. This study was registered at clinicaltrials.gov, identifier: NCT 00122980.
Copyright © 2014 American Society of Hematology.
PMID: 24914136 [PubMed - as supplied by publisher]
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4. Br J Haematol. 2014 Jan;164(1):124-30. doi: 10.1111/bjh.12594. Epub 2013 Oct 8.
Moderate endurance exercise in patients with sickle cell anaemia: effects on oxidative stress and endothelial activation.
Faes C1, Balayssac-Siransy E, Connes P, Hivert L, Danho C, Bogui P, Martin C, Pialoux V.
Author information:
1CRIS EA647, Université de Lyon 1, Villeurbanne, France.
Abstract
Very few studies have investigated the effects of exercise on the biological parameters involved in vaso-occlusive events in sickle cell anaemia (SCA). The aim of this study was to test how a mild-moderate endurance exercise modulates oxidative stress, nitric oxide bioavailability and endothelial activation in SCA patients and healthy individuals. Eleven patients with SCA and 15 healthy subjects completed a 20-min duration submaximal cycling exercise at ≈45 Watts. Plasma markers of oxidative stress, antioxidant activity, endothelial activation and nitric oxide bioavailability were investigated before and after the exercise. Nitric oxide levels, anti-oxidant capacity, soluble (s)E-selectin and sP-selectin did not change in response to this exercise. Except for the malondialdehyde levels, which increased in the two groups, the other markers of oxidative stress remained unchanged in both groups in response to exercise. Soluble vascular cell adhesion molecule 1 levels were increased at the end of exercise in both groups. sL-selectin decreased and soluble intercellular adhesion molecule 1 increased with exercise in SCA patients only. The present data suggest that patients with SCA may undertake mild-moderate physical activities without any acute clinical complications, but care should be taken because oxidative stress and endothelial activation significantly increased in some patients. © 2013 John Wiley & Sons Ltd.
PMID: 24903630 [PubMed - in process]
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5. Am J Hematol. 2014 May 31. doi: 10.1002/ajh.23777. [Epub ahead of print]
Reticulocytosis and anemia are associated with an increased risk of death and stroke in the newborn cohort of the Cooperative Study of Sickle Cell Disease. Meier ER1, Wright EC, Miller JL.
Author information:
1Molecular Medicine Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, 20892; Center for Cancer and Blood Disorders, Children's National Medical Center, Washington, D.C., 20010; Department of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, D.C., 20037.
Abstract
Prior analyses of the Cooperative Study of Sickle Cell Disease (CSSCD) newborn cohort identified elevated white blood cell (WBC) count, low baseline hemoglobin and dactylitis between the ages of 1 and 2 years as markers of severe disease. Reticulocytosis was also associated with severe disease. Here, we further analyzed data collected on enrolled CSSCD infants for the predictive value of those markers for stroke and death later in life. Three hundred fifty-four CSSCD subjects were identified who had absolute reticulocyte counts (ARC) measured during infancy (2 to 6 months of age). Infants with higher ARC had significantly increased risk of stroke or death during childhood; lower hemoglobin levels also increased the risk but to a lesser degree than ARC. WBC levels and dactylitis were not predictive of death or stroke. These data suggest that reticulocytosis among asymptomatic infants with sickle cell anemia is associated with an increased risk of death or stroke during childhood. Am. J. Hematol., 2014. © 2014 Wiley Periodicals, Inc.
Copyright © 2014 Wiley Periodicals, Inc.
PMID: 24891147 [PubMed - as supplied by publisher]
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6. PLoS One. 2014 May 30;9(5):e97462. doi: 10.1371/journal.pone.0097462. eCollection 2014.
Severe nocturnal and postexercise hypoxia in children and adolescents with sickle cell disease.
Halphen I1, Elie C2, Brousse V3, Le Bourgeois M4, Allali S3, Bonnet D5, de Montalembert M6.
Author information:
1Pediatric Emergency Department, Hospital Necker, APHP, Paris, France.
2Paris Descartes University, Paris, France; Department of Biostatistics, Hospital Necker, APHP, Paris, France.
3Pediatrics Department and Sickle Cell Clinic, Hospital Necker, AP-HP, Paris, France.
4Pediatric Pneumology and Allergology Department, Hospital Necker, APHP, Paris, France.
5Paris Descartes University, Paris, France; Pediatric Cardiology Department, M3C-Necker, AP-HP, Paris, Paris Descartes University, France.
6Paris Descartes University, Paris, France; Pediatrics Department and Sickle Cell Clinic, Hospital Necker, AP-HP, Paris, France.
Abstract
Hypoxia is a common feature in children with sickle cell disease (SCD) that is inconsistently associated with painful crises and acute chest syndrome. To assess the prevalence and risk factors of hypoxia, we recorded daytime, nocturnal, and postexercise pulse oximetry (SpO2) values in 39 SCD patients with a median age of 10.8 years. Median daytime SpO2 was 97% (range, 89%-100%), and 36% of patients had daytime hypoxia defined as SpO2<96%. Median nocturnal SpO2 was 94.7% (range, 87.7%-99.5%), 50% of patients had nocturnal hypoxia defined as SpO2≤93%, and 11(37%) patients spent more than 10% of their total sleep time with SpO2<90%. Median postexercise SpO2 was 94% (range, 72%-100%) and 44.7% of patients had postexercise hypoxia defined as an SpO2 decrease ≥3% after a 6-minute walk test. Among patients with normal daytime SpO2, 35% had nocturnal and 42% postexercise hypoxia. Compared to 9 patients without daytime, nocturnal, or postexercise hypoxia, 25 patients with hypoxia under at least one of these three conditions had greater anemia severity (P = 0.01), lower HbF levels (P = 0.04), and higher aspartate aminotransferase levels (P = 0.03). Males predominated among patients with postexercise hypoxia (P = 0.004). Hypoxia correlated neither with painful crises nor with acute chest syndrome. Of 32 evaluable patients, 6 (18.8%) had a tricuspid regurgitation velocity ≥2.6 m/s, and this feature was associated with anemia (P = 0.044). Median percentage of the predicted distance covered during a 6-minute walk test was 86% [46-120]; the distance was negatively associated with LDH (P = 0.044) and with a past history of acute chest syndrome (P = 0.009). In conclusion, severe episodes of nocturnal and postexercise hypoxia are common in children with SCD, even those with normal daytime SpO2. PMCID: PMC4039516 Free PMC Article
PMID: 24878576 [PubMed - in process]
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7. Br J Haematol. 2014 May 26. doi: 10.1111/bjh.12950. [Epub ahead of print]
The spleen and sickle cell disease: the sick(led) spleen.
Brousse V1, Buffet P, Rees D.
Author information:
1Department of Paediatrics, Reference Centre for Sickle Cell Disease, Hôpital Universitaire Necker-Enfants Malades, APHP, Paris, France; Université Paris Descartes, Paris, France; Laboratory of Excellence GR-Ex, Paris, France.
Abstract
The spleen has a combined function of immune defence and quality control of senescent or altered red cells. It is the first organ injured in sickle cell anaemia (SCA) with evidence of hyposplenism present before 12 months in the majority of children. Repeated splenic vaso-occlusion leads to fibrosis and progressive atrophy of the organ (autosplenectomy), which is generally complete by 5 years in SCA. The precise sequence of pathogenic events leading to hyposplenism is unknown. Splenic injury is generally silent and progressive. It can be clinically overt with acute splenic sequestration of red cells, an unpredictable and life-threatening complication in infants. Splenomegaly, with or without hypersplenism, can also occur and can coexist with loss of function. Hyposplenism increases the susceptibility of SCA children to infection with encapsulated bacteria, which is notably reduced by penicillin prophylaxis and immunization. Whether hyposplenism indirectly increases the risk of vaso-occlusion or other circulatory complications remains to be determined.
© 2014 John Wiley & Sons Ltd.
PMID: 24862308 [PubMed - as supplied by publisher]
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8. Eur J Haematol. 2014 May 3. doi: 10.1111/ejh.12361. [Epub ahead of print]
Predictors of splenic function preservation in children with sickle cell anemia treated with hydroxyurea.
Nottage KA1, Ware RE, Winter B, Smeltzer M, Wang WC, Hankins JS, Dertinger SD, Shulkin B, Aygun B.
Author information:
1Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Abstract
BACKGROUND:
More than 90% of children with sickle cell anemia (SCA) lose splenic function by the age of 2 yrs. Splenic function may improve with hydroxyurea, but previous studies are conflicting. We prospectively evaluated the effect of hydroxyurea on splenic filtrative function.
METHODS:
Children with SCA enrolled in the Hydroxyurea Study of Long-Term Effects (HUSTLE-NCT00305175) underwent clinical evaluations including Tc99 m liver-spleen (LS) scans before hydroxyurea initiation and after 3 yrs of treatment to maximum tolerated dose (MTD). LS scans were classified as follows: no uptake, <10% uptake, decreased but ≥10% uptake, and normal.
RESULTS:
Mean age (N = 40) was 9.1 yrs, range 2.3-17.0. After 3 yrs of treatment, 13 (33%) had uptake on LS scan. These 13 children were younger (median age 6.0 vs. 10.6 yrs, P = 0.008), had a higher HbF at baseline (mean 10.2% vs. 5.8%, P = 0.004) and after 3 yrs (22.9% vs. 13.9%, P < 0.001), achieved MTD more rapidly (median 288 vs. 358 d, P = 0.021), and were more likely to have baseline splenic uptake (P < 0.001).
CONCLUSIONS:
Hydroxyurea at MTD is associated with preserved or improved splenic filtrative function, with 33% demonstrating LS scan uptake after 3 yrs. Younger age, higher %HbF, and baseline splenic function are associated with a favorable outcome.
© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
PMID: 24796940 [PubMed - as supplied by publisher]
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9. J Public Health (Oxf). 2014 May 5. [Epub ahead of print]
A retrospective analysis of the cost of hospitalizations for sickle cell disease with crisis in England, 2010/11.
Pizzo E1, Laverty AA, Phekoo KJ, Aljuburi G, Green SA, Bell D, Majeed A.
Author information:
1Business School, Imperial College, London SW72AZ, UK.
Abstract
BACKGROUND:
Sickle cell disease (SCD) is an inherited blood disorder which may result in a broad range of complications including recurring and severe episodes of pain-sickle 'crises'-which require frequent hospitalizations. We assessed the cost of hospitalizations associated with SCD with crisis in England.
METHODS:
Hospital Episodes Statistics data for all hospital episodes in England between 2010 and 2011 recording Sickle Cell Anaemia with Crisis as primary diagnosis were used. The total cost of admissions and exceeded length of stay due to SCD were assessed using Healthcare Resource Groups tariffs. The impact of patients' characteristics on SCD admissions costs and the likelihood of incurring extra bed days were also examined.
RESULTS:
In 2010-11, England had 6077 admissions associated with SCD with crisis as primary diagnosis. The total cost for these admissions for commissioners was £18 798 255. The cost of admissions increases with age (children admissions costs 50% less than adults). Patients between 10 and 19 years old are more likely to stay longer in hospital compared with others.
CONCLUSION:
SCD represents a significant cost for commissioners and the NHS. Further work is required to assess how best to manage patients in the community, which could potentially lead to a reduction in hospital admissions and length of stay, and their associated costs.
PMID: 24796312 [PubMed - as supplied by publisher]
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Sickle Cell Conferences and Events
Global Sickle Cell Diseases Network Conference: Rio De Janeiro, Brazil, 2014 website www.globalsicklecelldisease.org the planned April 9-11 meeting of GSCDN and WISSH in Rio de Janeiro has been postponed to November 11-14, 2014. The postponement is to enable the GSCDN and WISSH meetings to be held in conjunction with the 2nd Global Congress on Sickle Cell Disease. Also, there was concern that the April date would be in partial conflict with the 8th Annual SCD Research and Education Symposium and National Sickle Cell Disease Scientific Meeting in Florida, US on April 11-14, which will for the first time have a major international component. See www.wissh.net for information as it becomes available.
Event: Sickle Cell in Focus (SCiF) Date: Monday 15 – Tuesday 16 September 2014
Venue: National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, Maryland, Washington, USA
This year we have been invited by the National Heart, Lung and Blood Institute (NHLBI) to hold SCiF the National Institutes of Health campus in Bethesda, Maryland USA. This is a fantastic opportunity to visit such a prestigious institution and our plan is to alternate the location yearly between King’s College London and NHLBI.
SCiF is now in its 8th year the event has become a world-class educational update for sickle cell disease. Over two intensive days we will focus on the treatment and management of sickle cell disease and provide a comprehensive update on recent research news. It attracts a wide audience of clinicians, academics and other healthcare professionals involved in the disease from around the world.
To book: Online booking will be open soon. If you would like to be kept up-to-date, please join the STSTN mailing list by sending an email to: info@ststn.co.uk Contact details: info@ststn.co.uk / + 44 (0) 20 7848 5441 / www.ststn.co.uk
September 19-20 2014, Duke-UNCConference 2nd Annual Engaging Providers and Families to Improve Care for Individuals with Sickle Cell Conference. Save the dates. More information to follow.
15th Atlanta Annual Sickle Cell Education Day Date: September 27, 2014 Theme: Sickle Cell – Let’s Talk! Time: Registration 9:00 am – 10:00 am Program10:00 am – 3:00 pm Location: Courtyard by Marriott Decatur Downtown/Emory 130 Clairemont Avenue Decatur, GA 30030
Sickle Cell News for May 2014
Walsall pop star hails brave teenager battling sickle cell anaemia who recorded Culture Club classic http://www.birminghammail.co.uk/whats-on/music-nightlife-news/boy-george-backing-leesha-macs-7102068
A stroke survivor who is also battling sickle cell anaemia is finally living her dream to become a singer – with the help of Boy George.Leesha McIntosh had to re-learn how to walk and talk after she suffered a stroke when she was just 12 years old.
Now aged 22 Leesha she has just recorded her first song which she has dedicated to sickle-cell sufferers, after her close friend Imani passed away from the genetic blood disorder.And Leesha’s debut record New Love – a re-working of the 1980s Culture Club hit I Want to Be Loved – is being backed by lead singer Boy George.
The internationally acclaimed star took time out from his USA tour to back Leesha’s song.“I wish Lisa all the luck in the world and can’t wait to hear her version of the Culture Club song,” said 52 year-old Boy George, who lived in Walsall as a teenager and sold shoes on Birmingham’s Rag Market. Leesha, from Handsworth, Birmingham, continues to have monthly blood transfusions to prevent another stroke and she has treatment for the genetic blood disorder sickle cell anaemia.Her illness often leaves her extremely tired and in pain. Her song has become a smash hit in her community after she raised the roof while performing it to more than 250 people at the Drum nightclub recently.She has already been asked to sing there again.“I feel uplifted when I sing,” said Leesha. “It makes me feel that there is hope in the world for Sicklers.
“This single is dedicated to all Sickle Cell and Thalassemia sufferers. I am a sicklier and grateful to God that I’m alive and living proof that we can live with this dreadful disease and still achieve so much in life. I never thought I’d accomplish my dream of becoming the singer I’d always wanted to be.”Leesha was rushed to Birmingham Children’s Hospital when she suffered a stroke in 2004.
She was left unable to walk and talk and her family feared she would never recover. Dad Trevor, 54 said: “She dedicated the song to all the people who suffer with sickle-cell anaemia.
Like Howard University, interim President Wayne A.I. Frederick has faced tough times http://www.washingtonpost.com/local/interim-president-wayne-ai-frederick-seeks-to-improve-health-of-howard-university/2014/05/20/7db99416-e058-11e3-810f-764fe508b82d_story.html Wayne A.I. Frederick was 16 when he arrived at Howard University from Trinidad in 1988. Bespectacled and frail from a life-and-death struggle with sickle cell anemia, the freshman stood 5 foot 6 and weighed only 88 pounds. And yet, by age 22, he’d not only earned a bachelor’s degree in zoology but also completed medical school. He went on to become associate dean of the medical college. In 2011, he earned a master’s degree in business. Last October, at age 42, the “triple alum” was appointed interim president of his alma mater.
It is a résumé and life journey that seems tailor-made for the challenges he faces.
The prognosis for Howard University is dire, to hear some tell it. A ranking member of the board of trustees warned a year ago that without more intensive care — especially more attention to the flow of money, the school’s life blood — Howard would be dead within three years.
Enter Frederick — a cancer surgeon with an MBA.
Frederick balks at being cast in a doctor-patient relationship with Howard. Nevertheless, during a recent interview, there was no doubt that a physician was on call.
“It’s important for me to be a calm voice in the room, bring my mind to rest in order to make the best decisions,” Frederick said, referring to the challenges posed by the fiscal crisis and political turmoil that had consumed his predecessor, Sidney Ribeau. “When things are going haywire in the operating room, I don’t get to lose my cool, or else I could lose my patient.”
Frederick, who was provost for academic affairs, was prepared to step up when Ribeau stepped down. He’d spent years studying “the anatomy of the university,” as he put it, the way he’d study the human body.
“You have to look at how one part affects the other,” he said. While serving as associate dean of the medical college in 2009, Frederick enrolled in Howard’s MBA program. Being a “consumer” of university services as a student and overhearing classmates speak about their experiences was akin to taking a patient’s pulse and listening to the heartbeat.
“One of the first things we had to do was become more operationally efficient,” Frederick said. “So the long lines and long waits for students to get help in the administration building don’t exist anymore. That has taken away some of the students’ frustrations.” Probably did wonders for their blood pressure, too.
From a window in the president’s office, Frederick can see the remaining bleachers on “the Yard,” the green acreage at the center of the campus where commencement ceremonies were held earlier this month. More than 2,500 students had graduated — including 105 who received PhDs, the largest doctoral class in Howard’s history.
“I’m obsessed with the educational journey that the students and their families make to get here and where they go after they leave,” Frederick said. He noted the decisive role of Howard lawyers in the landmark Brown v. Board of Education school desegregation case 60 years ago. “Howard students don’t just get a degree. We expect them to use that degree to provide a service to the world and bring that degree to life.” Just as his mother expected of him.
“What I brought on my journey to Howard was a life of love and support from a mother who had a dream,” he said. “She wanted to become a physician, but at that time her dad didn’t feel that women should become physicians. So she became a nurse. I believe my sickle cell intersected with her dream and made me want to become a physician.”
Frederick was the commencement speaker for the medical school graduation, a kind of 20th-year reunion for him. His mother, Frances Tyson, who is marking her 50th year as a nurse, had flown in from Trinidad for the occasion.
To help Howard students realize their dreams, Frederick believes, Howard needs a more rigorous curriculum and stronger career counseling. “We’re bringing in professional academic advisers who can monitor a student’s transcripts for strengths and deficits related to what they are trying to accomplish,” he said.
And just because someone has a doctorate in a subject doesn’t mean he or she can teach the subject, he added. So Howard is hiring more faculty members who understand the “technical aspects of teaching,” he said, especially to a new generation of students.
“We have to meet the demands of an increasingly competitive workforce,” Frederick said. “Our students will be seeking jobs and careers where African Americans are underrepresented, where there will be fewer people to advocate on their behalf. So they need a very strong academic environment, the kind of preparation that Charles Drew meant when he said excellence of performance will transcend all boundaries created by man.”
That’s a tall order — especially for a historically black university trying to improve its credit rating on Wall Street and restore its good name, a school that some have all but declared brain-dead.
Then again, Frederick is a doctor. Perhaps more important, he knows what it’s like to be deathly ill, then not only survive but thrive.
“When you’re sick and you’re told that you won’t live to see your eighth birthday, then told you won’t make it to 16, you can get depressed — or you can get motivated,” he said. No doubt about his response.
New Web link
Nutrition for the Child with Sickle Cell Anemia at http://www.eatright.org/kids/article.aspx?id=6442480398
Sickle Cell Disease Treatment Demonstration Program Frequently Asked Questions the Sickle Cell Disease Treatment Demonstration Program You can find the Grants.gov and the FOA number is HRSA-14-078. You can also find more information about the FOA athttp://www.hrsa.gov/grants/apply/assistance/sicklecell/
1. Can an organization or foundation with a contract with a medical center that meets the eligibility requirements apply to the SCDTDP FOA based on the contract with the medical center?
The authorizing legislation is very specific as to its eligible applicants. Under section (1)(A), the Administrator may make grants “to up to 40 eligible entities,” and under section (5)(B), eligible entities are defined as being:
Any Federally-qualified health center, nonprofit hospital or clinic, or university health center that provides primary health care that:
(i) has a collaborative agreement with a community-based Sickle Cell Disease organization or a nonprofit entity with experience in working with individuals who have Sickle Cell Disease; and
(ii) demonstrates to the Administrator that either the Federally-qualified health center, the nonprofit hospital or clinic, the university health center, the organization or entity described in clause (i), or the experts described in paragraph (2)(C), has at least 5 years of experience in working with individuals who have Sickle Cell Disease.
Given this specificity in the statutory language, a collaborating nonprofit organization is not eligible to apply in its own right unless it meets the criterion of being a “Federally-qualified health center, nonprofit hospital or clinic, or university health center that provides primary health care…” and meets the additional criteria in subsections (i) and (ii).
The FOA describes the eligibility requirements, but it is up to the organization to decide whether or not it believes that it satisfies the FOA requirements. The organization needs to decide whether or not it wishes to submit an application on the basis of its own judgment, and HRSA will make eligibility determinations upon reviewing the information provided by the applicants.
2. Can the primary grantee place a cap on the Indirect cost amount for sub-awards?
No, the primary applicant cannot put a cap on the Indirect cost for sub-awards. The applicant may wish to see if they can negotiate with the sub-awardee to see if they will use the same rate as the grantee, but, if they have a negotiated rate and want to use it, they can.
3. Does the primary applicant need to submit the itemized budget and the CV’s/resumes of the sub-awardees?
Yes, the applicant will need to submit the itemized budget and the CV’s/resumes of all of the sub-awardees to HRSA. Applicants should keep in mind that they will not be penalized if they do not have all of their sub-award agreements in place by the time of the application submission. The FOA states that the applicant will make sub-awards (agreements) or demonstrate the ability to make sub-awards. Therefore, if your application demonstrates that you can make the partnership within a reasonable amount of time, then you will not be penalized. You must make a good faith effort to provide assistance to every state in your region as the regional center.
"What is PCORI and what does it have to do with sickle cell disease”
PCORI is Patient Centered Outcomes Research Institute, a new organization funded by US government to promote a new sense that healthcare should focus on what patients and community stakeholders say. PCORI is trying to design research and healthcare that are centered on the needs voiced by patients, not just on life expectancy or lab tests or costs for the healthcare industry. This an active areas of healthcare change.
This is the time for the sickle cell community to help healthcare and health research to recognize the needs of sickle cell disease. This is the chance for the voices and opinions of sickle cell patients to be heard beyond the realm of YouTube statements and Patient Forum discussions that are "preaching to the choir" during sickle cell meetings, and move to forums that can influence the national and regional agenda.
There are several ways that sickle cell community can get involved in this active area of healthcare change. Here is a link about signing up to get involved in PCORI http://www.pcori.org/get-involved/landing/ Attached is a guide to some of the roles in PCORI.
In many academic medical centers, the Clinical Research Center funded by NIH has additional roles for patients and families in the Community Engagement Center or Patient Advisory Council. These have very similar goals as PCORI.
The FDA is looking at sickle cell disease in their program on Patient-Focused Drug Development. A Public Meeting was held in February 7, followed by 2 months of surveys on websites. Institutional Review Boards (IRB) are always looking for community members to help review medical research protocols. Sickle cell in the Medical Literature
1. J Fam Plann Reprod Health Care. 2014 May 23. pii: jfprhc-2013-100763. doi: 10.1136/jfprhc-2013-100763. [Epub ahead of print]
Trends in family planning and counselling for women with sickle cell disease in the UK over two decades.
Eissa AA1, Tuck SM2, Rantell K3, Stott D4.
Abstract
BACKGROUND:
Pregnancies in women with sickle cell disease (SCD) are known to have high rates of maternal and fetal mortality and morbidity. Given these pregnancy-associated problems for women with SCD, advice both about pregnancy planning and about effective contraception are of paramount importance. This study sought to discover the contraception methods used by women with SCD, what complications women with SCD encounter with contraception, and their experiences of pre-pregnancy counselling and pregnancy planning, and how such issues may have changed over the past two decades. METHOD:
The study was a multicentre, interview-based, cross-sectional study. Interviews were carried out with 102 women with SCD, in north and central London during 2010, concerning their current and previous contraceptive use, their pregnancy history, their menstrual history, and the advice they received concerning pregnancy planning and contraception. Patient information was anonymised and ethical approval was obtained. These data were compared with data from a similar study undertaken in 1993.
RESULTS:
There were significant differences in a number of key areas: the number of unplanned pregnancies decreased from 64% in 1993 to 53% in 2010. The number of women with SCD who were advised not to become pregnant also fell, from 36% to 15%. The use of combined oral contraceptive pills declined, from 45% of the women in 1993 to 31% in 2010. Conversely the use of depot medroxyprogesterone acetate contraception (DMPA) and the levonorgestrel intrauterine system (LNG-IUS) both increased.
CONCLUSIONS:
Significant changes in the contraceptive methods used by women with SCD are demonstrated in the London population. LNG-IUS use in SCD has not been investigated before. There has been an encouraging decrease in the number of women with SCD who are advised not to become pregnant, perhaps reflecting an improvement in their overall health. Although the number of unplanned pregnancies has fallen, it remains high - emphasising the continuing need for women with SCD to have access to informed advice about pregnancy-associated issues and contraception.
Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.
PMID: 24860151 [PubMed - as supplied by publisher]
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2. Am J Hematol. 2014 May 20. doi: 10.1002/ajh.23762. [Epub ahead of print]
The Glomerulopathy of Sickle Cell Disease.
Ataga KI1, Derebail VK, Archer DR.
Author information:
1Division of Hematology/Oncology, University of North Carolina, Chapel Hill.
Abstract
Sickle cell disease (SCD) produces many structural and functional abnormalities in the kidney, including glomerular abnormalities. Albuminuria is the most common manifestation of glomerular damage, with a prevalence between 26% and 68% in adult patients. The pathophysiology of albuminuria in SCD is likely multifactorial, with contributions from hyperfiltration, glomerular hypertension, ischemia-reperfusion injury, oxidative stress, decreased NO bioavailability and endothelial dysfunction. Although its natural history in SCD remains inadequately defined, albuminuria is associated with increased echocardiography-derived tricuspid regurgitant jet velocity, systemic blood pressure and hypertension, as well as history of stroke, suggesting a shared vasculopathic pathophysiology. While most patients with albuminuria are treated with angiotensin converting enzyme inhibitors/angiotensin receptor blockers, there are no published long-term data on the efficacy of these agents. With the improved patient survival following kidney transplantation, SCD patients with end-stage renal disease should be considered for this treatment modality. Given the high prevalence of albuminuria and its association with multiple SCD-related clinical complications, additional studies are needed to answer several clinically important questions in a bid to adequately elucidate its pathophysiology, natural history and treatment. Copyright © 2014 Wiley Periodicals, Inc., A Wiley Company.
PMID: 24840607 [PubMed - as supplied by publisher]
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3. Cell Host Microbe. 2014 May 14;15(5):587-99. doi: 10.1016/j.chom.2014.04.005.
Genomic analyses of pneumococci from children with sickle cell disease expose host-specific bacterial adaptations and deficits in current interventions. Carter R1, Wolf J2, van Opijnen T3, Muller M2, Obert C2, Burnham C2, Mann B2, Li Y4, Hayden RT5, Pestina T6, Persons D6, Camilli A7, Flynn PM2, Tuomanen EI2, Rosch JW8.
Abstract
Sickle cell disease (SCD) patients are at high risk of contracting pneumococcal infection. To address this risk, they receive pneumococcal vaccines, and antibiotic prophylaxis and treatment. To assess the impact of SCD and these interventions on pneumococcal genetic architecture, we examined the genomes of more than 300 pneumococcal isolates from SCD patients over 20 years. Modern SCD strains retained invasive capacity but shifted away from the serotypes used in vaccines. These strains had specific genetic changes related to antibiotic resistance, capsule biosynthesis, metabolism, and metal transport. A murine SCD model coupled with Tn-seq mutagenesis identified 60 noncapsular pneumococcal genes under differential selective pressure in SCD, which correlated with aspects of SCD pathophysiology. Further, virulence determinants in the SCD context were distinct from the general population, and protective capacity of potential antigens was lost over time in SCD. This highlights the importance of understanding bacterial pathogenesis in the context of high-risk individuals. Copyright © 2014 Elsevier Inc. All rights reserved.
PMID: 24832453 [PubMed - in process]
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4. Int J Low Extrem Wounds. 2014 May 13. pii: 1534734614534979. [Epub ahead of print]
Autologous Platelet Gel: Five Cases Illustrating Use on Sickle Cell Disease Ulcers.
Gilli SC1, Oliveira SA2, Saad ST2.
Author information:
1University of Campinas-UNICAMP, INCT do Sangue, Campinas, São Paulo, Brazilmona@unicamp.br.
2University of Campinas-UNICAMP, INCT do Sangue, Campinas, São Paulo, Brazil.
Abstract
Leg ulcers represent a particularly disabling complication in patients with sickle cell disease (SCD). Platelet gel (PG) is a novel therapeutic strategy used for accelerating wound healing of a wide range of tissues through the continuous release of platelet growth factors. Here, we describe the use of PG preparation according to Anitua's PRGF (preparations rich in growth factors) protocol for treating chronic nonhealing ulcers in patients with SCD. A positive response occurred in 3 patients with an area reduction of 85.7% to 100%, which occurred within 7 to 10 weeks, and a 35.2% and 20.5% of area reduction in 2 other patients, who however, had large ulcers. After calcium chloride addition, the platelet-rich plasmas demonstrated enhanced platelet-derived growth factors-BB (P < .001), transforming growth factor-β1 (P = .015), vascular endothelial growth factors (P = .03), and hepatocyte growth factors (nonsignificant) secretion. Furthermore, calcium chloride addition induced a significant decrease in platelet number (P = .0134) and there was no leukocyte detection in the PG product. These results demonstrate that PG treatment might impact the healing of leg ulcers in sickle cell disease, especially in patients with small ulcers. © The Author(s) 2014.
PMID: 24827464 [PubMed - as supplied by publisher]
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5. Hemoglobin. 2014;38(3):221-3. doi: 10.3109/03630269.2014.911748.
Low-molecular-weight heparins for managing vasoocclusive crises in people with sickle cell disease: a summary of a cochrane systematic review.
van Zuuren EJ1, Fedorowicz Z.
Author information:
1Department of Dermatology, Leiden University Medical Centre , Leiden , The Netherlands .
Abstract
Abstract We summarize a Cochrane systematic review that was conducted to assess the effects of low-molecular-weight heparins (LMWH) for managing vasoocclusive crises (VOC) in people with sickle cell disease. Sickle cell disease is one of the most common and severe genetic disorders in the world. It can be divided into three broadly distinct clinical phenotypes characterized by either hemolysis, pain syndromes or organ damage. Pain is the most prominent symptom of vasoocclusion, and hypercoagulability is a well-established pathogenic phenomenon in people with sickle cell disease. Searches included the Cochrane Cystic Fibrosis and Genetic Disorders Group Haemoglobinopathies Trials Register, abstract books of conference proceedings and several online trials registries (December 2012). One study (with an overall unclear to high risk of bias) comprising 253 participants was included. This study provided limited data, but concluded that tinzaparin resulted in a more rapid resolution of pain, and in a statistically significant lower number of hospitalization days compared to a placebo. Two minor bleeding events were reported as adverse events in the tinzaparin group. Based on the results from this single study, there is incomplete evidence to either support or refute the effectiveness of LMWH in people with sickle cell disease.
PMID: 24826795 [PubMed - in process]
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6. Blood Cells Mol Dis. 2014 May 7. pii: S1079-9796(14)00032-1. doi: 10.1016/j.bcmd.2014.04.004. [Epub ahead of print]
Deferiprone versus Deferoxamine in Sickle Cell Disease: Results from a 5-year long-term Italian multi-center randomized clinical trial.
Calvaruso G1, Vitrano A2, Di Maggio R1, Ballas S3, Steinberg MH4, Rigano P1, Sacco M1, Telfer P5, Renda D1, Barone R1, Maggio A6; The Investigators of the Multicenter Randomized Clinical Trial of Deferiprone versus Deferoxamine in Sickle-Cell-Disease.
Author information:
1Unita'Operativa Complessa Ematologia II, A.O.R. Villa Sofia-V. Cervello, Palermo, Italy.
2Dipartimento di Scienze Economiche, Aziendali e Statistiche, Università di Palermo, Palermo, Italy.
3Division of Hematology/Cardeza Foundation, Department of Medicine, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA, USA.
4Center of Excellence in Sickle Cell Disease, Department of Pediatrics, Pathology and Laboratory Medicine, Boston Medical Center, Boston, MA, USA.
5Department of Hematology, The Royal London Hospital, London, United Kingdom.
6Unita'Operativa Complessa Ematologia II, A.O.R. Villa Sofia-V. Cervello, Palermo, Italy. Electronic address: md.amaggio@gmail.it.
Abstract
Blood transfusion and iron chelation currently represent a supportive therapy to manage anemia, vasculopathy and vaso-occlusion crises in Sickle-Cell-Disease. Here we describe the first 5-year long-term randomized clinical trial comparing Deferiprone versus Deferoxamine in patients with Sickle-Cell-Disease. The results of this study show that Deferiprone has the same effectiveness as Deferoxamine in decreasing body iron burden, measured as repeated measurements of serum ferritin concentrations on the same patient over 5-years and analyzed according to the linear mixed-effects model (LMM) (p=0.822). Both chelators are able to decrease, significantly, serum ferritin concentrations, during 5-years, without any effect on safety (p=0.005). Moreover, although the basal serum ferritin levels were higher in transfused compared with non-transfused group (p=0.031), the changes over time in serum ferritin levels were not statistically significantly different between transfused and non-transfused cohort of patients (p=0.389). Kaplan-Meier curve, during 5-years of study, suggests that Deferiprone does not alter survival in comparison with Deferoxamine (p=0.38). In conclusion, long-term iron chelation therapy with Deferiprone was associated with efficacy and safety similar to that of Deferoxamine. Therefore, in patients with Sickle-Cell-Disease, Deferiprone may represent an effective long-term treatment option.
Copyright © 2014. Published by Elsevier Inc.
PMID: 24814618 [PubMed - as supplied by publisher]
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7. PLoS One. 2014 May 8;9(5):e96561. doi: 10.1371/journal.pone.0096561. eCollection 2014.
Renal function in children suffering from sickle cell disease: challenge of early detection in highly resource-scarce settings.
Aloni MN1, Ngiyulu RM1, Gini-Ehungu JL1, Nsibu CN2, Ekila MB3, Lepira FB4, Nseka NM4.
Author information:
1Division of Hemato-oncology and Nephrology, Department of Pediatrics, University Hospital of Kinshasa, School of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.
2Intensive Care Division, Department of Pediatrics, University Hospital of Kinshasa, School of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.
3Department of Internal Medicine, University Hospital of Kinshasa, School of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo. 4Division of Nephrology and Dialysis, Department of Internal Medicine, University Hospital of Kinshasa, School of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.
Abstract
BACKGROUND:
The prevalence of Sickle cell disease is extremely high in Democratic Republic of Congo. Despite this high prevalence of the disease, data on renal abnormalities in children are rare.
METHOD:
The study proposed to assess blood pressure, glomerular function, urea and uric acid levels in 65 steady state Congolese children with homozygous sickle cell disease and 67 normal controls.
RESULTS:
In Hb-SS group, blood pressure level tended to be lower than Hb-AA groups but there was no statistically significant difference (p>0.05) between the two groups. The absolute values for GFR corrected for BSA were significantly higher in Hb-SS group compared to Hb-AA group (130.5±34.1 ml/min/1.73 m2 vs 113.7±24.5 ml/min/1.73 m2; p = 0.004). Children with Hb-SS were more likely to hyperfiltrate (30.8% of subjects) than children with Hb-AA (6.1% of subjects). Proteinuria was found in 4 (6.2%) children with Hb-SS. Uric acid level was significantly increased in children with Hb-SS compared to corresponding values in control group (4.4±1.3 mg/dl vs 3.5±1.1 mg/dl; p<0.001). Urea level was significantly decreased compared to corresponding values in Hb-AA group (15.3±8.3 mg/dl vs 22.9±10.1 mg/dl; p<0.001).
CONCLUSION:
Hyperfiltration, low creatinine, lower urea and high uric acid are more common in children with sickle cell disease than in normal controls. PMCID: PMC4014510 Free PMC Article
PMID: 24810610 [PubMed - in process]
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8. J Pediatr Hematol Oncol. 2014 May 6. [Epub ahead of print]
Patient-centered Approach to Designing Sickle Cell Transition Education.
Williams CP1, Smith CH, Osborn K, Bemrich-Stolz CJ, Hilliard LM, Howard TH, Lebensburger JD.
Author information:
1*Division of Pediatric Hematology Oncology †Lister Hill Library of Health Sciences, University of Alabama at Birmingham, Birmingham, AL.
Abstract
INTRODUCTION::
It is vital to engage patients with sickle cell disease (SCD) in the transition process from pediatric to adult care. To better understand the patient perspective during the time of transition, we conducted this research with the goal of incorporating patient comprehension and desires for transition education.
MATERIALS AND METHODS::
We surveyed 37 adolescent patients with SCD about their understanding of SCD and transition education preferences. In addition, patient responses were analyzed to understand differences among urban and rural patients.
RESULTS::
The mean age of surveyed participants was 14.9 years (SD=2.1). Forty-three percent of participants responded that the topic of transition had been introduced to them, and only 21% responded that they received education about transition. Despite the poor awareness about transition, almost all participants were interested in learning more about the transition process through a technology-based transition education platform where individual health topics could be explored.
DISCUSSION::
Despite a didactic teaching approach to transition education, we identified that sickle cell participants had poor recognition of receiving transition education and poor understanding of their basic medical history. However, patients can identify specific health topics that should be addressed during an individualized transition education program.
PMID: 24807007 [PubMed - as supplied by publisher]
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9. Pediatr Blood Cancer. 2014 May 7. doi: 10.1002/pbc.25085. [Epub ahead of print]
Combined umbilical cord blood and bone marrow from HLA-identical sibling donors for hematopoietic stem cell transplantation in children with hemoglobinopathies. Soni S1, Boulad F, Cowan MJ, Scaradavou A, Dahake J, Edwards S, Walters MC.
Author information:
1Nationwide Children's Hospital, The Ohio State University, Columbus, Ohio.
Abstract
BACKGROUND:
It is well established that umbilical cord blood and bone marrow are biologically different stem cell sources.
PATIENTS AND METHODS:
We analyzed the feasibility and outcome of hematopoietic stem cell transplantation (HSCT) in 13 children (median age 5.9 years) with hemoglobinopathies after the co- infusion of cord blood (CB) and bone marrow (BM) from the same human leucocyte antigen (HLA) identical sibling donor. We also compared outcomes of children with co-transplantation to outcomes in children with hemoglobinopathies who had received a BM (n = 21) or CB (n = 22) transplant alone.
RESULTS:
Compared to CB transplant (CBT) recipients, the co-transplant group had more rapid neutrophil (17 vs. 25 days, P = 0.013) and platelet (29 vs. 48 days, P = 0.009) recovery and less transplant related mortality. Patients who received a co-transplant had a lower incidence of ≥grade II acute (0% vs. 26.3%) and chronic (0% vs. 21%) graft versus host disease (GVHD) compared to BM transplant (BMT) recipients (P = 0.055 and 0.045, respectively). With a median follow-up of >60 months in each treatment group, the 5-year probability of event free survival (EFS) was 100% in the co-transplant group, 90% after BMT and 86% after CBT (P = 0.42).
CONCLUSION:
Co-transplantation of CB and BM from HLA-identical sibling donors appears to be a feasible and effective strategy to further optimize outcomes of HSCT for hemoglobinopathies. Pediatr Blood Cancer © 2014 Wiley Periodicals, Inc.
© 2014 Wiley Periodicals, Inc.
PMID: 24803091 [PubMed - as supplied by publisher]
Sickle Cell News for April 2014
New tool helps young adults with sickle cell disease in the transition to adult care Child and adolescent hematologists at Boston Medical Center (BMC) have developed a tool to gauge how ready young adults with sickle cell disease are for a transition into adult care. In a new article for the Journal of Pediatric Hematology/Oncology, Amy Sobota, MD, MPH, and her collaborators have shown that a questionnaire geared to the needs of young adults with sickle cell disease can pinpoint areas of need before the patient goes into an adult clinic.
BMC's sickle cell disease transition clinic, which is unique in Boston, was established in 2008 and serves approximately 45 patients. Sickle cell disease is a hemoglobin disorder, the molecule in red blood cells that carries oxygen to the tissues. Due to a genetic mutation, sickle cell patients make red blood cells that are shaped like a crescent or "sickle." These patients are often anemic and can get bouts of extreme pain when sickled red blood cells become caught in small vessels of the body. Sickle cell disease traditionally has had a high mortality rate; however, children with sickle cell disease are now living longer, healthier lives thanks to early diagnosis and effective treatment.
These welcome changes have given new importance to the young patient's point of transition into adult care. Previous studies have shown that patients with SCD who are transitioning from pediatric to adult care have more admissions and emergency department visits. "We saw that these patients had specific needs, and that is why we started the transition clinic at BMC," said Sobota, who is an attending in pediatric hematology/oncology at BMC and an assistant professor of pediatrics at Boston University School of Medicine.
To determine the tool's efficacy, the researchers looked at the answers provided by 33 patients between the ages of 18 and 22 who completed the assessment. A majority, 97 percent, of the respondents said they could explain sickle cell disease to another person and that they understood "how they got" the genetic disease, and 94 percent understood that sickle cell disease might be passed on to their children.
All of the patients said that they planned to attend college or obtain post-high-school training, but only 70 percent knew where to find information about job training and opportunities. Sixty four percent of transitioning patients said they understood the various types of health insurance available to them, but only 13 percent had drawn up a portable medical history form that they could give to adult healthcare providers. Encouragingly, 97 percent of young sickle cell patients claimed a good social support system.
Finally, patients were asked about their ability to manage independent living and 73 percent of the patients had some job experience, full- or part-time. Although all of the patients were 18 and over, only 79 percent said they were already going to doctor's appointments on their own. However, few mentioned that they had anxiety about transitioning to adult care.
"Our study indicates that this assessment tool – the only one of its kind – provides important information to physicians of patients with sickle cell disease who are transitioning from pediatric to adult care," said Sobota. "Caregivers can use this information from patients in order to effectively tailor and guide their treatment and education through this transition."
Sickle cell disease: The forgotten survivors See the story athttp://america.aljazeera.com/features/2014/4/sickle-cell-diseasetheforgottensurvivors.html Funding Opportunity Announcement for the Sickle Cell Disease Treatment Demonstration Program has been released. You can find the Grants.gov and the FOA number is HRSA-14-078. You can also find more information about the FOA athttp://www.hrsa.gov/grants/apply/assistance/sicklecell/ There will be a informational webinar regarding this funding opportunity on Monday, May 12 at 3:00pm Eastern Standard Time.
Please share this information as widely as possible. If you have any questions regarding the FOA, please submit your question to me by email, so that I may address the question for the entire pool of potential applicants. Please do not call me to ask questions regarding the FOA, as I will just ask you to submit your question by email.
Thank you,
Edward Donnell Ivy, MD, MPH
Medical Officer, Genetics Services Branch
Division of Services for Children with Special Health Needs
Maternal and Child Health Bureau
5600 Fishers Lane. Rm 18-A-19
Rockville, MD 20857
301-480-1312-fax
301-443-9775-phone
eivy@hrsa.gov
Sickle cell in the Medical Literature
1. Blood. 2014 Apr 24. [Epub ahead of print]
How I treat renal complications in sickle cell disease.
Sharpe CC1, Thein SL.
Author information:
1Department of Renal Medicine, King's College London, London, United Kingdom;
Abstract
Renal disease is one of the most frequent and severe complications experienced by patients with sickle cell disease; its prevalence is likely to increase as the patient population ages. We recommend regular monitoring for early signs of renal involvement and a low threshold for the use of hydroxyurea as preventative measures for end stage renal disease. Once renal complications are detected, a careful assessment of the patient is required to rule out other causes of renal disease. Proteinuria and hypertension should be managed aggressively and the patient referred to a specialist nephrology center when progressive decline in renal function noted. For the few patients who develop advanced chronic kidney disease, timely planning for dialysis and transplantation can significantly improve outcome and we recommend an exchange blood transfusion policy for all patients on the transplant waiting list and for those with a functioning graft. Alongside the invasive treatment regimes, it is important to remember that renal failure in conjunction with sickle cell disease does carry a significant burden of morbidity, and that focusing on symptom control has to be central to good patient care.
PMID: 24764565 [PubMed - as supplied by publisher]
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2. Thromb Res. 2014 May;133 Suppl 1:S52-3. doi: 10.1016/j.thromres.2014.03.021.
Red blood cells and thrombin generation in sickle cell disease.
Whelihan MF1, Lim MY1, Key NS2.
Author information:
1Division of Hematology/Oncology, Department of Medicine, University of NC at Chapel Hill, USA.
2Division of Hematology/Oncology, Department of Medicine, University of NC at Chapel Hill, USA. Electronic address:nigel_key@med.unc.edu.
Abstract
The prothrombotic nature of sickle cell disease (SCD) is evidenced by the chronically elevated levels of almost all coagulation activation biomarkers, and an increased incidence of certain thrombotic events, including venous thromboembolism. Numerous studies have attempted to define the extent and elucidate the mechanism of the observed increase in thrombin generation in SCD patients in vivo. In general, these studies were performed using thrombin generation assays in platelet poor or platelet rich plasma and showed little difference in endogenous thrombin potential between the SCD cohort and healthy matched controls. In SCD, erythrocytes and monocytes have been demonstrated to exhibit procoagulant characteristics. Thus, the absence of these cellular components in standard thrombin generation assays may fail to reflect global hypercoagulability in the whole blood of patients with SCD. We were therefore surprised to see no difference in net thrombin generation in tissue factor-initiated initiated clotting of whole blood from patients with SCD. However, we are continuing to reconcile these seemingly disparate observations by slight modifications of the whole blood model that include alternative coagulation triggers and a re-examination of the net thrombin generation when the protein/protein S system is simultaneously interrogated.
Copyright © 2014 Elsevier Ltd. All rights reserved.
PMID: 24759144 [PubMed - in process]
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3. Br J Health Psychol. 2014 Apr 23. doi: 10.1111/bjhp.12099. [Epub ahead of print]
Assessing the quality of life of children with sickle cell anaemia using self-, parent-proxy, and health care professional-proxy reports.
Constantinou C1, Payne N, Inusa B.
Author information:
1Psychology Department, Middlesex University, London, UK.
Abstract
OBJECTIVES:
The quality of life (QoL) of children with sickle cell anaemia (SCA) in the United Kingdom has not been examined, and a discrepancy measure based on Gap theory has rarely been used. This study investigated whether (1) child self-reports of QoL using a discrepancy measure (the Generic Children's QoL Measure; GCQ) are lower than those from healthy children, (2) proxy reports from parents and health care professionals are lower than child self-reports, and (3) demographic and disease severity indicators are related to QoL.
DESIGN AND METHODS:
An interdependent groups, cross-sectional design was implemented. Seventy-four children with SCA, their parent, and members of their health care team completed the GCQ. Demographic and disease severity indicators were recorded. GCQ data from healthy children were obtained from the UK Data Archive.
RESULTS:
Contrary to past research, when examining generic discrepancy QoL, children with SCA did not report a lower QoL than healthy children, and parent- and health care professional-proxy reports were not lower than child self-reports. Few of the demographic and disease severity indicators were related to QoL.
CONCLUSIONS:
Proxy reports may be used to gain a more complete picture of QoL, but should not be a substitute for self-reports. The explanation for the relatively high levels of QoL reported is not clear, but children with SCA may have realistic expectations about their ideal-self, place greater emphasis on aspects other than health in shaping their QoL, and define achievements within the limits of their illness. Future research should focus on psychological factors in explaining QoL. Statement of contribution What is already known on this subject? Children with sickle cell disease (SCD) generally have a reduced QoL compared with healthy children, but there appears to be no research measuring QoL in paediatric SCD in the United Kingdom. Proxy QoL reports from parents are often lower than child self-reports, but there is less research examining proxy reports from health care professionals. Previous research has measured paediatric QoL using measures of current health-related QoL, but this is not in line with the WHO's definition of QoL as the discrepancy between current state and expectations. What does this study add? Children with Sickle cell anaemia do not have an impaired discrepancy QoL; they may have realistic expectations about their ideal-self and define achievements within the limits of their illness. Health care professionals are able to gauge a SCA child's discrepancy QoL better than parents. The GCQ (a generic discrepancy measure of QoL) takes into account expectations about ideal QoL and does not emphasize health; it may be of use to Psychologists working with SCA children.
© 2014 The British Psychological Society.
PMID: 24758574 [PubMed - as supplied by publisher]
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4. Br J Haematol. 2014 Apr 18. doi: 10.1111/bjh.12879. [Epub ahead of print]
Management of the acute painful crisis in sickle cell disease- a re-evaluation of the use of opioids in adult patients.
Telfer P1, Bahal N, Lo A, Challands J.
Author information:
1Department of Haematology, Royal London Hospital, Barts Health NHS Trust, London, UK.
Abstract
Management of the acute painful crisis (APC) of sickle cell disease (SCD) remains unsatisfactory despite advances in the understanding and management of acute pain in other clinical settings. One reason for this is an unsophisticated approach to the use of opioid analgesics for pain management. This applies to haematologists who are responsible for developing acute sickle pain management protocols for their patients, and to health care staff in the acute care setting. The objective of this article is to evaluate the evidence for use of opioids in APC management. We have highlighted the possibilities for improving management by using alternatives to morphine, and intranasal (IN) or transmucosal routes of administration for rapid onset of analgesia in the emergency department (ED). We suggest how experience gained in managing acute sickle pain in children could be extrapolated to adolescents and young adults. We have also questioned whether patients given strong opioids in the acute setting are being safely monitored and what resources are required to ensure efficacy, safety and patient satisfaction. We also identify aspects of care where there are significant differences of opinion, which require further study by randomized controlled trial. © 2014 John Wiley & Sons Ltd.
PMID: 24750050 [PubMed - as supplied by publisher]
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5. Lancet Glob Health. 2014 Feb;2(2):e80-e89.
Global migration and the changing distribution of sickle haemoglobin: a quantitative study of temporal trends between 1960 and 2000.
Piel FB1, Tatem AJ2, Huang Z3, Gupta S4, Williams TN5, Weatherall DJ6.
Author information:
1Evolutionary Ecology of Infectious Disease Group, Tinbergen Building, Department of Zoology, University of Oxford, Oxford, UK ; Global Sickle Cell Disease Network, Toronto, ON, Canada.
2Department of Geography and Environment, University of Southampton, Southampton, UK ; Fogarty International Center, National Institutes of Health, Bethesda, MD, USA.
3Center for Infectious Disease Dynamics and Department of Biology, Pennsylvania State University, PA, USA. 4Evolutionary Ecology of Infectious Disease Group, Tinbergen Building, Department of Zoology, University of Oxford, Oxford, UK. 5Global Sickle Cell Disease Network, Toronto, ON, Canada ; Kenya Medical Research Institute-Wellcome Trust Programme, Centre for Geographic Medicine Research-Coast, Kilifi District Hospital, Kilifi, Kenya ; Department of Medicine, Imperial College, St Mary's Hospital, London, UK. 6Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Abstract
BACKGROUND:
Changes in the geographical distribution of genetic disorders are often thought to happen slowly, especially when compared with infectious diseases. Whereas mutations, genetic drift, and natural selection take place over many generations, epidemics can spread through large populations within a few days or weeks. Nevertheless, population movements can interfere with these processes, and few studies have been done of their effect on genetic disorders. We aimed to investigate the effect of global migration on the distribution of the sickle-cell gene-the most common and clinically significant haemoglobin structural variant.
METHODS:
For each country, we extracted data from the World Bank's Global Bilateral Migration Database about international human migrations between 1960 and 2000. We combined this information with evidence-based estimates of national HbS allele frequencies, generated within a Bayesian geostatistical framework, to analyse temporal changes in the net numbers of migrants, and classified countries with an index summarising these temporal trends.
FINDINGS:
The number of international migrants increased from 92·6 million in 1960, to 165·2 million in 2000. The estimated global number of migrants with HbS increased from about 1·6 million in 1960, to 3·6 million in 2000. This increase was largely due to an increase in the number of migrants from countries with HbS allele frequencies higher than 10%, from 3·1 million in 1960, to 14·2 million in 2000. Additionally, the mean number of countries of origin for each destination country increased from 70 (SE 46) in 1960, to 98 (48) in 2000, showing an increasing diversity in the network of international migrations between countries. Our index of change map shows a patchy distribution of the magnitude of temporal changes, with the highest positive and negative values scattered across all continents.
INTERPRETATION:
Global human population movements have had a substantial effect on the distribution of the HbS gene. Population movements can create a long-term burden on health-care systems. Our findings, which emphasise countries in which migration fluxes are changing the most, should increase awareness about the global burden of haemoglobinopathies and encourage policy makers to implement specific public health interventions, such as screening programmes and genetic counselling.
FUNDING:
Wellcome Trust, European Research Council, Bill & Melinda Gates Foundation, National Institute of Allergy and Infectious Diseases-National Institutes of Health, the Research and Policy for Infectious Disease Dynamics program, Fogarty International Center.
PMCID: PMC3986033 Free PMC Article
PMID: 24748392 [PubMed]
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6. J Pain Symptom Manage. 2014 Apr 14. pii: S0885-3924(14)00182-1. doi: 10.1016/j.jpainsymman.2014.02.002. [Epub ahead of print]
Perceived Discrimination in Health Care is Associated with a Greater Burden of Pain in Sickle Cell Disease.
Haywood C Jr1, Diener-West M2, Strouse J3, Carroll CP3, Bediako S4, Lanzkron S3, Haythornthwaite J3, Onojobi G5, Beach MC3;IMPORT Investigators.
Author information:
1The Johns Hopkins School of Medicine. Electronic address:chaywoodjr@jhu.edu.
2The Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland.
3The Johns Hopkins School of Medicine.
4The University of Maryland, Baltimore County, Baltimore, Maryland.
5The Howard University Hospital, Washington, DC, USA.
Abstract
CONTEXT:
Perceived discriminatory experiences in society have been associated with a higher burden of pain among some minority patient populations.
OBJECTIVES:
To describe the extent to which patients with sickle cell disease (SCD) perceive discrimination from health care providers, and to examine the association of these experiences with the burden of chronic SCD pain.
METHODS:
Cross-sectional analysis of data collected at baseline of a prospective cohort study of SCD patient experiences of care (n = 291). Perceived race-based and disease-based discrimination from health care providers were measured using subscales adapted from the Interpersonal Processes of Care Survey. Discrimination scores were examined for their association with patient characteristics and measures of pain burden using descriptive, bivariate, and multivariate analytic techniques.
RESULTS:
Respondents reported a greater burden of race-based discrimination from health care providers than has been previously reported by African Americans, and they reported a greater amount of disease-based versus race-based discrimination. While age and having difficulty persuading providers about pain were the only patient characteristics independently associated with race-based discrimination, older age, greater emergency room utilization, having difficulty persuading providers about pain, daily chronic pain, fewer "good days" during a week, and a higher severity of pain on their "good days" were independently associated with greater disease-based discrimination.
CONCLUSION:
Perceived disease-based, but not race-based, discrimination was found to be associated with a greater range of self-reported pain among patients with SCD. If causal, this finding could signal an important new approach to mitigating the burden of pain experienced by persons with SCD. Copyright © 2014 U.S. Cancer Pain Relief Committee. Published by Elsevier Inc. All rights reserved.
PMID: 24742787 [PubMed - as supplied by publisher]
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7. Pediatr Blood Cancer. 2014 Apr 17. doi: 10.1002/pbc.25059. [Epub ahead of print]
Outcomes of matched sibling donor hematopoietic stem cell transplantation for severe sickle cell disease with myeloablative conditioning and intermediate-dose of rabbit anti-thymocyte globulin.
Soni S1, Gross TG, Rangarajan H, Baker KS, Sturm M, Rhodes M.
Author information:
1Division of Hematology/Oncology/BMT, Nationwide Children's Hospital and Department of Pediatrics, The Ohio State University, Columbus, Ohio.
Abstract
BACKGROUND:
Allogeneic hematopoietic stem cell transplantation (HSCT) is a curative therapy for sickle cell disease (SCD) in children. Despite excellent outcomes of matched sibling donor (MSD) HSCT, there is still 5-10% chance of rejection and transplant related mortality (TRM) with 12-23% incidence of graft versus host disease (GVHD). We postulated that an intermediate dose of rabbit anti-thymocyte globulin (r-ATG, 10 mg/kg cumulative) would be effective in preventing both rejection and GVHD.
PATIENTS AND METHODS:
Fifteen patients, median age 5 (range 1.5-18) years, underwent MSD HSCT using busulfan (≥12.8 mg/kg with first dose pharmacokinetics), cyclophosphamide (total 200 mg/kg) and r-ATG. Bone marrow was the stem cell source; tacrolimus and methotrexate were given for GVHD prophylaxis.
RESULTS:
All patients achieved donor engraftment and there was no TRM. One patient rejected donor cells at 2 months post-transplant. Majority of the patients had high and sustained level of donor chimerism. None of the patients developed ≥Grade II GVHD. Incidence of CMV (10%) and EBV (9%) reactivations was low with rapid immune-reconstitution. Overall survival was 100% with event free survival of 93%.
CONCLUSIONS:
Eliminating the risks of TRM and GVHD by optimizing the regimen may lead to further acceptance of HSCT for SCD. Pediatr Blood Cancer © 2014 Wiley Periodicals, Inc.
© 2014 Wiley Periodicals, Inc.
PMID: 24740582 [PubMed - as supplied by publisher]
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8. PLoS One. 2014 Apr 16;9(4):e94387. doi: 10.1371/journal.pone.0094387. eCollection 2014.
Outcomes of acute chest syndrome in adult patients with sickle cell disease: predictors of mortality.
Allareddy V1, Roy A2, Lee MK3, Nalliah RP4, Rampa S5, Allareddy V6, Rotta AT7.
Author information:
1Assistant Professor of Pediatrics, Pediatric Critical Care, Rainbow Babies and Children's Hospital, Cleveland, Ohio, United States of America.
2Fellow, Pediatric Critical Care Medicine, Rainbow Babies and Children's Hospital, Cleveland, Ohio, United States of America.
3Developmental Biology, Harvard School of Dental Medicine, Boston, Massachusetts, United States of America.
4Instructor, Dental Medicine, Harvard University, Boston, Massachusetts, United States of America.
5Advanced Graduate Student, Texas A & M University, College station, Texas, United States of America.
6Associate Professor, Department of Orthodontics, University of Iowa; Iowa, United States of America.
7Professor of Pediatrics, Pediatric Critical Care, Rainbow Babies and Children's Hospital, Cleveland, Ohio, United States of America.
Abstract
Adults with sickle cell disease(SCD) are a growing population. Recent national estimates of outcomes in acute chest syndrome(ACS) among adults with SCD are lacking. We describe the incidence, outcomes and predictors of mortality in ACS in adults. We hypothesize that any need for mechanical ventilation is an independent predictor of mortality.
METHODS:
We performed a retrospective analysis of the Nationwide Inpatient Sample(2004-2010),the largest all payer inpatient database in United States, to estimate the incidence and outcomes of ACS needing mechanical ventilation(MV) and exchange transfusion(ET) in patients >21 years. The effects of MV and ET on outcomes including length of stay(LOS) and in-hospital mortality(IHM) were examined using multivariable linear and logistic regression models respectively. The effects of age, sex, race, type of sickle cell crisis, race, co-morbid burden, insurance status, type of admission, and hospital characteristics were adjusted in the regression models.
RESULTS:
Of the 24,699 hospitalizations, 4.6% needed MV(2.7% for <96 hours, 1.9% for ≥96 hours), 6% had ET, with a mean length of stay(LOS) of 7.8 days and an in-hospital mortality rate(IHM) of 1.6%. There was a gradual yearly increase in ACS hospitalizations that needed MV(2.6% in 2004 to 5.8% in 2010). Hb-SS disease was the phenotype in 84.3% of all hospitalizations. After adjusting for a multitude of patient and hospital related factors, patients who had MV for <96 hours(OR = 67.53,p<0.01) or those who had MV for ≥96 hours(OR = 8.73,p<0.01) were associated with a significantly higher odds for IHM when compared to their counterparts. Patients who had MV for ≥96 hours and those who had ET had a significantly longer LOS in-hospitals(p<0.001).
CONCLUSION:
In this large cohort of hospitalized adults with SCD patients with ACS, the need for mechanical ventilation predicted higher mortality rates and increased hospital resource utilization. Identification of risk factors may enable optimization of outcomes.
PMCID: PMC3989222 Free PMC Article
PMID: 24740290 [PubMed - in process]
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9. Eur J Haematol. 2014 Apr 15. doi: 10.1111/ejh.12340. [Epub ahead of print]
Thinking beyond sickling to better understand pain in sickle cell disease.
Darbari DS1, Ballas S, Clauw DJ.
Author information:
1Division of Hematology, Center for Cancer and Blood Disorders, Children's National Medical Center, Department of Pediatrics, George Washington University, Washington, DC.
Abstract
Painful vaso-occlusive crises (VOCs) are the hallmark of sickle cell disease (SCD) however many patients experience frequent daily pain that does not follow the pattern of typical VOCs. This pain of variable severity also referred as persistent pain in the SCD literature, contributes to significant morbidity and poor quality of life and often fails to respond adequately to standard SCD therapies. In this article we briefly describe types of pain encountered in SCD with a special emphasis on persistent pain. We discuss altered pain processing as a potential contributing mechanism which may lead to development and maintenance of persistent pain. We describe advances in the non-SCD pain field that may help improve the understanding of SCD pain. We highlight the need for further investigation in this area since some of these patients with persistent pain may benefit from receiving adjuvant mechanism based therapies used successfully in other non-SCD chronic pain conditions. This article is protected by copyright. All rights reserved.
This article is protected by copyright. All rights reserved.
Sickle cell disease once meant a short and painful life, but now there’s growing hope http://www.washingtonpost.com/national/health-science/sickle-cell-disease-once-meant-a-short-and-painful-life-but-now-theres-growing-hope/2014/03/03/d964d318-6275-11e3-91b3-f2bb96304e34_story.html
New research and better and more aggressive treatment have begun to change sickle cell disease from an inherited condition that often condemned children to painful and short lives into a condition that can be managed with less pain and has a better life expectancy.
Man with sickle cell disease, not expected to live past 40, celebrates 70th birthday http://www.nydailynews.com/life-style/health/man-sickle-cell-disease-celebrates-70th-birthday-article-1.1723095
The average life span of people with the inherited disease is 42 years for men. Richard Mitchell's doctors now say he may be the oldest patient who is currently living with the disease.
Program Update: Sickle Cell Disease Treatment Demonstration
Dear Colleagues,
HRSA’s Sickle Cell Disease Treatment Demonstration Grant Program supports the creation of systemic mechanisms to improve the prevention and treatment of Sickle Cell Disease, including the coordination of service delivery for individuals with Sickle Cell Disease.
This year the program is expanding its reach by transitioning to a regional model. The new program structure will require grantees to develop multi-state partnerships.
The proposed regional structure for the HRSA Sickle Cell Regional Collaborative regions is as follows:
SCDTDP Region HRSA Regions States
North Atlantic Region HRSA Region 1 CT, MA, ME, NH, RI, VT
Northeast Region HRSA Regions 2 and 3 DC, DE, MD, NY, NJ, PA, PR, VA, WV, VI
Southeast Region HRSA Region 4 AL, FL, GA, KY, MS, NC, SC, TN
Midwest Region HRSA Region 5 IL, IN, MI, MN, OH, WI
Southwest Region HRSA Region 6 AR, LA, NM, OK, TX
Heartland Region HRSA Region 7 IA, KS, MO, NE,
Prairie Region HRSA Region 8 CO, MT, ND, SD, UT, WY
Pacific Region HRSA Regions 9 and 10 AK, AZ, CA, HI, ID, NV, OR, WA, Pacific Basin
We will continue to keep you informed of program updates.
Best regards,
Edward Donnell Ivy, MD, MPH
Medical Officer, Division of Services for Children with Special Health Needs
Maternal and Child Health Bureau
Health Resources and Services Administration (HRSA)
U.S. Department of Health and Human Services
New Web Resource _ Emergency Department Sickle Cell Disease from Duke University athttp://sickleemergency.duke.edu/
This website is designed as an educational resource to support emergency clinicians in their care of children and adults living with Sickle Cell Disease (SCD) There are pain management guidelines and case presentations.
New Book for Sickle Cell Providers - IASP Publishes Sickle Cell Pain
A new second edition published by the International Association for the Study of Pain will interest researchers and clinicians focused on sickle cell disease. Sickle Cell Pain, Second Edition, by Samir K. Ballas, is a panoramic, in-depth exploration of every scientific, human, and social dimension of this cruel disease. This comprehensive, definitive work is unique in that it is the only book devoted to sickle cell pain, as opposed to general aspects of the disease. The 752-page book links sickle cell pain to basic, clinical, and translational research, addressing various aspects of sickle pain from molecular biology to the psychosocial aspects of the disease. Supplemented with patient narratives, case studies, and visual art, Sickle Cell Pain’s scientific rigor extends through its discussion of analgesic pharmacology, including abuse-deterrent formulations. The book also addresses in great detail inequities in access to care, stereotyping and stigmatization of patients, the implications of rapidly evolving models of care, and recent legislation and litigation and their consequences. Qualified reviewers may request complimentary review copies in digital format throughiaspdesk@iasp-pain.org. The book’s table of contents is available on the IASP website. At http://www.iasp-pain.org/PublicationsNews/ProductDetail.aspx?ItemNumber=3153
CDC Web based Sickle Cell Resources
“Public Health Webinar Series on Hemoglobinopathies”
New Video
2/27: The history of sickle cell disease
Dr. Todd Savitt, Brody School of Medicine at East Carolina University
mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDC022714.wmv
Hosted by: The Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities (NCBDDD),
Centers for Disease Control and Prevention (CDC)
4th Thursday of every month from 2:00PM – 3:00PM ET
Hemoglobinopathy Webinar recordings and slide presentations are archived at
http://scinfo.org under the “webinars” toolbar
The purpose of this webinar series is to offer a hemoglobinopathies
learning collaborative platform for providers, consumers, educators, and scientists.
To Join The Webinar
Copy this address and paste it into your web browser: https://www.livemeeting.com/cc/cdc/join
Copy and paste the required meeting ID: 84QK2D and click “join”.
First Time Users: To save time before the meeting, check your system to make sure it is ready to use Microsoft Office Live Meeting.
To hear the presentation you must call in to the number below.
For Audio
Dial 1-877-953-6706 and enter participant code: 9706616
If you are unable to join us on the internet for viewing, you are welcome to call in for audio access only.
Participants outside the United States must be able to access 800 numbers to the US.
Hemoglobinopathies Webinar Schedule 2014
3/27: Global initiatives in sickle cell disease
Dr. Kwaku Ohene-Frempong, Sickle Cell Foundation of Ghana
4/24: Sickle cell disease in Georgia, from newborn screening to transition
Dr. Peter Lane, Children’s Healthcare of Atlanta
5/22: The global burden of sickle cell disease
Dr. Fred Piel, University of Oxford
6/26: Quality of life measurement for the hemoglobinopathies
Dr. Marsha Treadwell, Children’s Hospital Oakland Research Institute
7/24: Topic TBD
Dr. Rakhi Naik, Johns Hopkins Medicine
8/28: Pregnancy and thalassemia
Dr. Alexis Thompson, Northwestern University
9/25: Sickle cell trait and neonatal hematologic screening
Dr. Zora Rogers, University of Texas Southwestern Medical Center
10/23: Transition of care for children and young adults living with sickle cell disease
Dr. Ify Osunkwo, Levine Cancer Institute/Carolinas HealthCare System
November and December: --- No Webinar ---
If you have ideas on topics for future webinars, or have any questions or comments about this series please submit them to Shae Pope spope@cdc.gov .
CDC’s YouTube Link: http://www.youtube.com/watch?v=gnrvYsZWR1c&list=UUiMg06DjcUk5FRiM3g5sqoQ&index=2&feature=plpp_video
CDC Video Archive (http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-health
CDC Sickle Cell Disease Webpage: http://wwwdev.cdc.gov/NCBDDD/sicklecell/video.html
Articles in the Medical Literature for March
1. J Clin Invest. 2014 Mar 18. pii: 72305. doi: 10.1172/JCI72305. [Epub ahead of print]
Neutrophil AKT2 regulates heterotypic cell-cell interactions during vascular inflammation.
Li J, Kim K, Hahm E, Molokie R, Hay N, Gordeuk VR, Du X, Cho J.
Abstract
Interactions between platelets, leukocytes, and activated endothelial cells are important during microvascular occlusion; however, the regulatory mechanisms of these heterotypic cell-cell interactions remain unclear. Here, using intravital microscopy to evaluate mice lacking specific isoforms of the serine/threonine kinase AKT and bone marrow chimeras, we found that hematopoietic cell-associated AKT2 is important for neutrophil adhesion and crawling and neutrophil-platelet interactions on activated endothelial cells during TNF-α-induced venular inflammation. Studies with an AKT2-specific inhibitor and cells isolated from WT and Akt KO mice revealed that platelet- and neutrophil-associated AKT2 regulates heterotypic neutrophil-platelet aggregation under shear conditions. In particular, neutrophil AKT2 was critical for membrane translocation of αMβ2 integrin, β2-talin1 interaction, and intracellular Ca2+ mobilization. We found that the basal phosphorylation levels of AKT isoforms were markedly increased in neutrophils and platelets isolated from patients with sickle cell disease (SCD), an inherited hematological disorder associated with vascular inflammation and occlusion. AKT2 inhibition reduced heterotypic aggregation of neutrophils and platelets isolated from SCD patients and diminished neutrophil adhesion and neutrophil-platelet aggregation in SCD mice, thereby improving blood flow rates. Our results provide evidence that neutrophil AKT2 regulates αMβ2 integrin function and suggest that AKT2 is important for neutrophil recruitment and neutrophil-platelet interactions under thromboinflammatory conditions such as SCD.
PMID: 24642468 [PubMed - as supplied by publisher]
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2. J Clin Invest. 2014 Mar 18:1-4. doi: 10.1172/JCI75238. [Epub ahead of print]
Not simply misshapen red cells: multimolecular and cellular events in sickle vaso-occlusion.
Vercellotti GM, Belcher JD.
Abstract
Thromboinflammatory diseases result from the interactions of vascular endothelial cells, inflammatory cells, and platelets with cellular adhesion molecules, plasma proteins, and lipids. Tipping the balance toward a prothrombotic, proinflammatory phenotype results from multicellular activation signals. In this issue of the JCI, Li et al. explore the regulation of heterotypic neutrophil-platelet contacts in response to TNF-α-induced venular inflammation with relevance to sickle cell disease (SCD).
PMID: 24642460 [PubMed - as supplied by publisher]
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3. J Pain Symptom Manage. 2014 Mar 15. pii: S0885-3924(14)00043-8. doi: 10.1016/j.jpainsymman.2013.08.020. [Epub ahead of print]
Outpatient Pain Predicts Subsequent One-Year Acute Health Care Utilization Among Adults With Sickle Cell Disease.
Ezenwa MO1, Molokie RE2, Wang ZJ3, Yao Y4, Suarez ML4, Angulo V4, Wilkie DJ5.
Author information:
1Department of Biobehavioral Health Science, University of Illinois at Chicago College of Nursing, Chicago, Illinois, USA; Comprehensive Sickle Cell Center, University of Illinois Hospital & Health Sciences System, Chicago, Illinois, USA.
2Comprehensive Sickle Cell Center, University of Illinois Hospital & Health Sciences System, Chicago, Illinois, USA; Division of Hematology/Oncology, Department of Medicine, University of Illinois at Chicago College of Medicine, Chicago, Illinois, USA; Department of Biopharmaceutical Sciences, University of Illinois at Chicago College of Pharmacy, Jesse Brown VA Medical Center (R.E.M.), Chicago, Illinois, USA.
3Department of Biopharmaceutical Sciences, University of Illinois at Chicago College of Pharmacy, Jesse Brown VA Medical Center (R.E.M.), Chicago, Illinois, USA.
4Department of Biobehavioral Health Science, University of Illinois at Chicago College of Nursing, Chicago, Illinois, USA.
5Department of Biobehavioral Health Science, University of Illinois at Chicago College of Nursing, Chicago, Illinois, USA. Electronic address: diwilkie@uic.edu.
Abstract
CONTEXT:
Patient demographic and clinical factors have known associations with acute health care utilization (AHCU) among patients with sickle cell disease (SCD), but it is unknown if pain measured predominantly in an outpatient setting is a predictor of future AHCU in patients with SCD.
OBJECTIVES:
To determine whether multidimensional pain scores obtained predominantly in an outpatient setting predicted subsequent 1-year AHCU by 137 adults with SCD and whether the pain measured at a second visit also predicted AHCU.
METHODS:
Pain data included the Composite Pain Index (CPI), a single score representative of a multidimensional pain experience (number of pain sites, intensity, quality, and pattern). Based on the distribution of AHCU events, we divided patients into three groups: 1) zero events (zero), 2) 1 to 3 events (low), or 3) 4 to 23 events (high).
RESULTS:
The initial CPI scores differed significantly by the three groups (F(2,134) = 7.38, P = 0.001). Post hoc comparisons showed that the zero group had lower CPI scores than both the low (P < 0.01) and high (P < 0.001) groups. In multivariate overdispersed Poisson regression analyses, age and CPI scores (at both measurement times) were statistically significant predictors of utilization events. Pain intensity scores at both measurement times were significant predictors of utilization, but other pain scores (number of pain sites, quality, and pattern) were not.
CONCLUSION:
Findings support use of outpatient CPI scores or pain intensity and age to identify at-risk young adults with SCD who are likely to benefit from improved outpatient pain management plans.
Copyright © 2014 U.S. Cancer Pain Relief Committee. Published by Elsevier Inc. All rights reserved.
PMID: 24636960 [PubMed - as supplied by publisher]
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4. Haematologica. 2014 Mar 14. [Epub ahead of print]
Impaired blood rheology plays a role in the chronic disorders associated with sickle cell-hemoglobin C disease.
Lemonne N1, Lamarre Y, Romana M, Hardy-Dessources MD, Lionnet F, Waltz X, Tarer V, Mougenel D, Tressières B, Lalanne-Mistrih ML, Etienne-Julan M, Connes P.
Author information:
1Guadeloupe;
Abstract
- Free Article
PMID: 24633868 [PubMed - as supplied by publisher]
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5. J Pediatr Hematol Oncol. 2014 Mar 13. [Epub ahead of print]
Prodromal Illness Before Acute Chest Syndrome in Pediatric Patients With Sickle Cell Disease.
Creary SE1, Krishnamurti L.
Author information:
1*Division of Pediatric Hematology/Oncology, Nationwide Children's Hospital, Columbus, OH †Division of Pediatric Hematology/Oncology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA.
Abstract
BACKGROUND::
Acute chest syndrome (ACS) is associated with morbidity and mortality in children with sickle cell disease. We hypothesize that children with sickle cell disease have a distinct prodromal illness before their ACS episode.
MATERIALS AND METHODS::
We performed a chart review of ICD-9-CM identified ACS episodes at a pediatric hospital from 2005 to 2010. Prodromal visits were defined as acute visits that resulted in a discharge from care and occurred within 2 weeks of a hospitalization that included ACS. We reviewed the documented history, examination, laboratory studies, and radiographs for each prodromal visit.
RESULTS::
We identified 196 ACS episodes. Children received prodromal care in 29% of the ACS episodes. Painful vaso-occlusive crisis was a common reason for seeking this care (61%) and was commonly located in the chest or back (81%). We also observed that patients were hypoxic (53%), tachypneic (29%), had a history of asthma (39%) or ACS (80%), and presented during the winter months (38%).
CONCLUSIONS::
These data suggest that nearly one third of patients who develop ACS seek care for a prodromal illness. Further research is needed to confirm and better define an ACS prodromal illness that may help to identify patients at high risk for developing ACS.
PMID: 24633302 [PubMed - as supplied by publisher]
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6. J Pediatr Hematol Oncol. 2014 Mar 13. [Epub ahead of print]
Pediatric Hematology Providers on Referral for Transplant Evaluation for Sickle Cell Disease: A Regional Perspective.
Mikles B1, Bhatia M, Oyeku SO, Jin Z, Green NS.
Author information:
1*Department of Pediatric Hematology/Oncology, Naval Medical Center Portsmouth, Portsmouth, VA †Pediatric Hematology, Oncology and Stem Cell Transplantation §Department of Biostatistics, Mailman School of Public Health, Columbia University Medical Center ‡Department of Pediatrics, Division of General Pediatrics, Albert Einstein College of Medicine, Montefiore Medical Center, New York, NY.
Abstract
Hematology referral for evaluation is a key step for hematopoietic stem cell transplantation for sickle cell disease (SCD). Pediatric SCD providers in the US Northeast (New York-Mid-Atlantic and New England regions) were surveyed anonymously for perspectives and practices regarding transplant referral and compared by whether they practiced at SCD transplant centers. Data were analyzed using the Fisher exact test, χ test, and logistic regression. Half of the respondents practiced primarily at transplant sites. Most (79%) were enthusiastic about transplant for SCD and 78% had recently referred ≥1 child for evaluation. Overall, 77% limited referral to certain sickle hemoglobinopathies and 44% preferred referral for β-thalassemia to SCD. Indications selected for referral resembled current transplant criteria, plus family request or poor response to therapy. Referral for children on chronic transfusions predicted enthusiasm and prior referral. Many (66%) referred children with multiple SCD complications, even without matched sibling donors, 37% with sibling donors despite limited disease. Practitioners at transplant centers more commonly accepted event-free survival rates of ≤90% (P=0.002). Northeastern providers expressed varying enthusiasm for referral for evaluation based on eligibility, donor availability, and acceptable risk, with modestly more interest from practitioners at transplant centers. Differing provider perspectives may affect patient referral for transplant consideration. PMID: 24633300 [PubMed - as supplied by publisher]
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7. Am J Nurs. 2014 Mar 13. [Epub ahead of print]
Using Guided Imagery to Manage Pain in Young Children with Sickle Cell Disease.
Dobson CE1, Byrne MW.
Author information:
1Cassandra Elaine Dobson is an assistant professor of nursing at Lehman College, the City University of New York, in New York City. Mary Woods Byrne is the Stone Foundation and Elise D. Fish Professor in Clinical Health Care for the Underserved at the Columbia University School of Nursing in New York City. The authors acknowledge Meghan D. Kelly, MSEd, CCLS, for providing training in guided imagery for child participants at the Children's Hospital at Montefiore Medical Center in New York City, and Songs of Love, a nonprofit organization, for creating and donating the original music CDs given to each child at the end of the study. Contact author: Cassandra Elaine Dobson,cassandra.dobson@lehman.cuny.edu. The authors and planners have disclosed no potential conflicts of interest, financial or otherwise.
Abstract
: Findings show the technique can be readily taught to and used effectively by this population.
BACKGROUND:
Despite innovations in treatment, disease-related pain is still the primary cause of hospitalization for children with sickle cell disease. Pharmacologic pain management relieves pain temporarily, but adverse effects are increasingly a concern. Cognitive behavioral therapies, which include the use of guided imagery, have shown promise in changing pain perception and coping patterns in people with chronic illnesses. Few studies have been done in children with sickle cell disease.
OBJECTIVES:
The purposes of this study were to test the effects of guided imagery training on school-age children who had been diagnosed with sickle cell disease, and to describe changes in pain perception, analgesic use, self-efficacy, and imaging ability from the month before to the month after training.
METHODS:
A quasi-experimental interrupted time-series design was used with a purposive sample of 20 children ages six to 11 years enrolled from one sickle cell disease clinic, where they had been treated for at least one year. Children completed pain diaries daily for two months, and investigators measured baseline and end-of-treatment imaging ability and self-efficacy.
RESULTS:
After training in the use of guided imagery, participants reported significant increases in self-efficacy and reductions in pain intensity, and use of analgesics decreased as well.
CONCLUSIONS:
Guided imagery is an effective technique for managing and limiting sickle cell disease-related pain in a pediatric population.
PMID: 24632887 [PubMed - as supplied by publisher]
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8. Blood. 2014 Mar 11. [Epub ahead of print]
Heme-induced neutrophil extracellular traps contribute to the pathogenesis of sickle cell disease.
Chen G1, Zhang D, Fuchs TA, Wagner DD, Frenette PS.
Author information:
1Ruth L. and David S. Gottesman Institute for Stem Cell and Regenerative Medicine Research, Albert Einstein College of Medicine, Bronx, NY, United States;
Abstract
Sickle cell disease (SCD) is characterized by recurring episodes of vascular occlusion in which neutrophil activation plays a major role. The disease is associated with chronic hemolysis with elevated cell-free hemoglobin and heme. The ensuing depletion of heme scavenger proteins leads to non-specific heme uptake and heme-catalyzed generation of reactive oxygen species (ROS). Here, we have identified a novel role for heme in the induction of neutrophil extracellular trap (NET) formation in SCD. NETs are decondensed chromatin decorated by granular enzymes and are released by activated neutrophils. In humanized SCD mice, we have detected NETs in the lungs and soluble NET components in plasma. The presence of NETs was associated with hypothermia and death of these mice, which could be prevented and delayed, respectively, by dismantling NETs with DNase I treatment. We have identified heme as the plasma factor that stimulates neutrophils to release NETs in vitro and in vivo. Increasing or decreasing plasma heme concentrations can induce or prevent, respectively, in vivo NET formation, indicating that heme plays a crucial role in stimulating NET release in SCD. Our results thus suggest that NETs significantly contribute to SCD pathogenesis, and can serve as a therapeutic target for treating SCD.
PMID: 24620350 [PubMed - as supplied by publisher]
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Sickle Cell News for January 2014
UAMS opens statewide sickle cell treatment program in Little Rock Ark. http://www.sfgate.com/news/article/UAMS-opens-statewide-sickle-cell-treatment-program-5162744.php
Page 1 of 1
Adult sickle cell patients across the state will have better access to treatment under a new clinic launched Tuesday by the University of Arkansas for Medical Sciences.About 1,300 adults and children in Arkansas suffer from the hereditary disease, which causes painful episodes that often bring complications, such as bone infections, stroke and kidney disease.
Sickle cell patients living in medically underserved rural areas will particularly benefit from the new clinic, which is operating in partnership with UAMS' distance health center so patients can have consultations via the Internet. The program is led by Dr. Robin Devan, a palliative care physician at UAMS. "Sickle cell is a chronic, high-maintenance disease, because as a blood disease it affects every organ in the body," Devan said in a news release. Patients with severe forms of the disease can live into their 40s, she said. The disease used to kill patients at an early age. With sickle cell patients living longer, more is needed to provide for their care.
"People in their 20s and 30s may present with kidney failure, liver failure, strokes, retinopathy, and other life-threatening conditions," Devan said. In 2011, a bill by state Rep. Reginald Murdock, D-Marianna, provided $400,000 to start the clinic. It now draws funding from the Legislature and the state Medicaid program. The program has nurses available around the clock to assist patients who call 855-742-2355. It also features a transition clinic, which helps patients make the transition from child to adult care. A patient registry will track adult patients who give consent so the clinic can monitor morbidity and mortality trends.
Duluth girl battles sickle cell anemia with help from little sister Gwinnettdailypost.com http://www.gwinnettdailypost.com/news/2014/jan/04/duluth-girl-battles-sickle-cell-anemia-with-help/
After an emotional and challenging 2013, Vanessa Gissel is looking forward to the new year.The 11-year-old girl from Duluth endured long stints away from home after undergoing a bone marrow transplant to treat her sickle cell anemia. It was a difficult journey — 39 straight days in the Aflac Cancer Center of Children’s Healthcare of Atlanta followed by 32 nights in the Atlanta Ronald McDonald House — but one made easier by the love and support of her family. Four million Nigerians are currently suffering from Sickle Cell Disease (SCD) http://dailypost.com.ng/2014/01/24/four-million-nigerians-living-sickle-cell/ A Professor of Haematology and President, Sickle Cell Hope Alive Foundation (SCHAF), Adeyinka Falusi has said that about four million Nigerians are currently suffering from Sickle Cell Disease (SCD). Adeyinka who disclosed this at the Achievers Private University in Owo during its 7th matriculation lecture, also said over 40 million Nigerians have AS genotypes, while 66 to 72 per cent of the country’s population is AA.
She said it disease was one of the problematic issues facing the nation, blaming the federal government for poor sensitization exercise. Falusi warned that the population of SCD patients would continue to rise as long as the 40million AS people continue to marry each other. The Professor said “today’s discussion centres on SCD because it is the most prevalent disease in Nigeria with 2-3 per cent of 167 million people affected (about 4million). It is the most problematic disorder for several reasons as will be enumerated. Over 150,000 SCD children are born annually and 100,000 children and adult are affected die annually. “At least 40 million Nigerians have sickle cell trait and if they continue to inter-marry, with all caution thrown to the wind, then the chicken will come home to roost with many more Nigerians bearing the burden of SCD. Falusi observed that Nigeria is one of the countries in the world that has the largest number of SCD patients, adding that the population grows due to what she described as government’s nonchalant attitude towards those patients and inability to encourage parents to check the status of their children at the age of six months.
She said “our government does not bother on how to tackle this problem. Look at Ghana, they are far from us on this. There is an amount of fund budgeted for this health disease. There are some countries in the world whose population of SCD patient is like ours, but today, they have been able to reduce this population. In Nigeria, there is nothing like that, government should rise up and ensure it fight against this disease”. “I am advising the government to have a comprehensive SCD prevention program that benefits from the full range of up-to-date scientific information concerning inheritance patterns, prevention approaches, and structured management of the disease. They also need to embark on sensitization, particularly for the people in rural areas. Also, the NGOs should facilitate training of trainers workshops for students, artisan and professional groups.
Student's ordeal raises sickle cell awareness USA Today http://www.usatoday.com/story/news/nation/2014/01/16/students-ordeal-raises-sickle-cell-awareness/4551007/
Honoring James Eckman, MD http://emorymedicinemagazine.emory.edu/issues/2014/winter/class_notes/eckmansdevotion/index.html
New Video Resource
"Across the Lifespan of Women and Girls with Blood Disorders: Adolescence to Menopause"
This is a recorded version of FWGBD's Friday Satellite Symposium "Across the Lifespan of Women and Girls with Blood Disorders: Adolescence to Menopause" that preceded the 55th American Society of Hematology's (ASH) Annual Meeting on December 6, 2013 in New Orleans, LA. There are six 25- to 35-minute presentations followed by a Q & A after each topic area. Each session may be viewed individually and at your own pace. Presentations and speakers are as follows:
Adolescents, Sickle Cell Disease and Reproductive Lifespan Issues (Kim Smith-Whitley, MD)
Girls with Bone Marrow Failure: Challenges with Menarche and Beyond (Adrianna Vlachos, MD)
Red Cell Alloimmunization in Pregnancy: Diagnosis and Management (Kenneth Moise, Jr., MD)
Platlet Alloimmunization in Pregnancy (Terry Gernsheimer, MD)
Growing Older with von Willebrand Disease (Barbara Konkle, MD)
Menopause Life-Stage Challenges for Women with a History of Thrombosis (JoAnn Pinkerton, MD)
View Presentations at www.fwgbd.org
FDA’s Sickle Cell Patient-Focused Drug Development Meeting:
This is a reminder about the upcoming public meeting on sickle cell disease, as part of FDA’s Patient-Focused Drug Development initiative. The purpose of the meeting is to hear patient perspectives on the health effects of sickle cell disease and on treating sickle cell disease. This meeting is free and open to the public. Meeting information:Date: February 7, 2014 Time: 10:00 am – 4:00 pm Location: FDA White Oak campus Building 31 (Great Room) 10903 New Hampshire Avenue Silver Spring, MD 20993
Attendees can register through January 27, 2014 here: http://patientfocusedsicklecell.eventbrite.com/.
Contribute to the meeting dialogue!The meeting format maximizes patient participation. For each discussion topic, a small panel of patients or caretakers will prove brief comments to start the dialogue. The panel comments will be followed by a facilitated discussion with others in the audience. Patients or caregivers who would like to be considered for an opening panel can indicate that as part of registration. They will be asked to send a short summary of their responses to the discussion questions (posted on our registration site) toPatientFocused@fda.hhs.gov.
Live Webcast: A live webcast will be available for those unable to attend in person. Web participants will be able to submit comments as part of the discussion through the webcast. Please register for the webcast at http://patientfocusedsicklecell.eventbrite.com/. Send in Comments: Patients and anyone else who is interested can also share their perspectives by submitting a comment to FDA. Click here to send comments: http://www.regulations.gov/#!documentDetail;D=FDA-2013-N-1328-0001.
For more information:Please visit the FDA website: http://www.fda.gov/ForIndustry/UserFees/PrescriptionDrugUserFee/ucm370867.htm. This website also includes a series ofbackground webinars on FDA and Patient-Focused Drug Development.
CDC Web based Sickle Cell Resources
“Public Health Webinar Series on Hemoglobinopathies”
Hosted by: The Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities (NCBDDD),
Centers for Disease Control and Prevention (CDC)
4th Thursday of every month from 2:00PM – 3:00PM ET
Hemoglobinopathy Webinar recordings and slide presentations are archived at
http://scinfo.org under the “webinars” toolbar
The purpose of this webinar series is to offer a hemoglobinopathies
learning collaborative platform for providers, consumers, educators, and scientists.
To Join The Webinar
Copy this address and paste it into your web browser: https://www.livemeeting.com/cc/cdc/join
Copy and paste the required meeting ID: 84QK2D and click “join”.
First Time Users: To save time before the meeting, check your system to make sure it is ready to use Microsoft Office Live Meeting.
To hear the presentation you must call in to the number below.
For Audio
Dial 1-877-953-6706 and enter participant code: 9706616
If you are unable to join us on the internet for viewing, you are welcome to call in for audio access only.
Participants outside the United States must be able to access 800 numbers to the US.
Hemoglobinopathies Webinar Schedule 2014
New Video available at mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDC012314.wmv
For 1/23: An overview of sickle cell disease activities in Angola
Dr. Russell Ware and Dr. Patrick McGann, Cincinnati Children's Hospital Medical Center
2/27: The history of sickle cell disease
Dr. Todd Savitt, Brody School of Medicine at East Carolina University
3/27: Global initiatives in sickle cell disease
Dr. Kwaku Ohene-Frempong, Sickle Cell Foundation of Ghana
4/24: Sickle cell disease in Georgia, from newborn screening to transition
Dr. Peter Lane, Children’s Healthcare of Atlanta
5/22: The global burden of sickle cell disease
Dr. Fred Piel, University of Oxford
6/26: Quality of life measurement for the hemoglobinopathies
Dr. Marsha Treadwell, Children’s Hospital Oakland Research Institute
7/24: Topic TBD
Dr. Rakhi Naik, Johns Hopkins Medicine
8/28: Pregnancy and thalassemia
Dr. Alexis Thompson, Northwestern University
9/25: Sickle cell trait and neonatal hematologic screening
Dr. Zora Rogers, University of Texas Southwestern Medical Center
10/23: Transition of care for children and young adults living with sickle cell disease
Dr. Ify Osunkwo, Levine Cancer Institute/Carolinas HealthCare System
November and December: --- No Webinar ---
If you have ideas on topics for future webinars, or have any questions or comments about this series please submit them to Shae Pope spope@cdc.gov .
CDC’s YouTube Link: http://www.youtube.com/watch?v=gnrvYsZWR1c&list=UUiMg06DjcUk5FRiM3g5sqoQ&index=2&feature=plpp_video
CDC Video Archive (http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-health
CDC Sickle Cell Disease Webpage: http://wwwdev.cdc.gov/NCBDDD/sicklecell/video.html
Articles in the Medical Literature for January
1. Paediatr Respir Rev. 2013 Dec 21. pii: S1526-0542(13)00157-7. doi: 10.1016/j.prrv.2013.12.004. [Epub ahead of print]
Hypoxemia in Sickle Cell Disease: Significance And Management.
Caboot JB1, Allen JL2.
Abstract
Hypoxemia is common in SCD and likely exacerbates SCD vasculopathy. Pulse oximeter correlation with arterial oxygen tension in patients with SCD may at times be poor and arterial blood gas confirmation is required in hypoxic patients. Supplemental oxygen should be administered for the correction of hypoxemia, which if untreated creates a risk of multi-organ failure. Transfusion and hydroxyurea can improve oxygen delivery to tissues and organs. The role of supplemental oxygen therapy in preventing or reversing SCD vasculopathy is controversial. Nitric oxide therapy for VOC pain has not fulfilled promise to date. On the other hand, lung distension (CPAP, incentive spirometry, PEP therapy) are promising treatments requiring further study. Published by Elsevier Ltd.
PMID: 24461342 [PubMed - as supplied by publisher]
Related citations
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2. Clin J Am Soc Nephrol. 2014 Jan 23. [Epub ahead of print]
Prevalence and Correlates of Metabolic Acidosis among Patients with Homozygous Sickle Cell Disease.
Maurel S, Stankovic Stojanovic K, Avellino V, Girshovich A, Letavernier E, Grateau G, Baud L, Girot R, Lionnet F, Haymann JP.
BACKGROUND AND OBJECTIVES:
Very few studies report acid base disorders in homozygous patients with sickle cell anemia (SCA) and describe incomplete renal acidosis rather than true metabolic acidosis, the prevalence of which is unknown and presumably low. This study aimed to assess the prevalence of metabolic acidosis and to identify its risk factors and mechanisms.
DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS:
This study retrospectively analyzed 411 homozygous patients with SCA with a GFR≥60 ml/min per 1.73 m2, referred in a single center between 2007 and 2012. Acidosis and nonacidosis groups were compared for clinical and biologic data including SCA complications and hemolytic parameters. A subgroup of 65 patients with SCA, referred for a measured GFR evaluation in the setting of sickle cell-associated nephropathy, was further analyzed in order to better characterize metabolic acidosis.
RESULTS:
Metabolic acidosis was encountered in 42% of patients with SCA, with a higher prevalence in women (52% versus 27% in men; P<0.001). Several hemolytic biomarkers, such as lactate dehydrogenase, were different between the acidosis and nonacidosis groups (P=0.02 and P=0.03 in men and women, respectively), suggesting higher hemolytic activity in the former group. To note, fasting urine osmolality was low in the whole study population and was significantly lower in men with SCA in the acidosis group (392 versus 427 mOsm/kg; P=0.01). SCA subgroup analysis confirmed metabolic acidosis with a normal anion gap in 14 patients, characterized by a lower urinary pH (P<0.02) and no increase in urinary ammonium. Serum potassium, plasma renin, and aldosterone were similar between the two groups and thus could not explain impaired urinary ammonium excretion.
CONCLUSIONS:
These results suggest that the prevalence of metabolic acidosis in patients with SCA is underestimated and related to impaired ammonium availability possibly due to an altered corticopapillary gradient. Future studies should evaluate whether chronic metabolic acidosis correction may be beneficial in this population, especially in bone remodeling.
PMID: 24458070 [PubMed - as supplied by publisher]
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Sickle Cell News for December 2013
Flipping a Gene Switch Reactivates Fetal Hemoglobin, May Reverse Sickle Cell Diseasehttp://www.sciencedaily.com/releases/2013/12/131208133646.htm Dec. 8, 2013 — Hematology researchers at The Children's Hospital of Philadelphia have manipulated key biological events in adult blood cells to produce a form of hemoglobin normally absent after the newborn period. Because this fetal hemoglobin is unaffected by the genetic defect in sickle cell disease (SCD), the cell culture findings may open the door to a new therapy for the debilitating blood disorder.
"Our study shows the power of a technique called forced chromatin looping in reprogramming gene expression in blood-forming cells," said hematology researcher Jeremy W. Rupon, M.D., Ph.D., of The Children's Hospital of Philadelphia. "If we can translate this approach to humans, we may enable new treatment options for patients."
Rupon presented the team's findings today at a press conference during the annual meeting of the American Society of Hematology (ASH) in New Orleans. Rupon worked in collaboration with a former postdoctoral fellow, Wulan Deng, Ph.D., in the laboratory of Gerd Blobel, M.D., Ph.D. Hematologists have long sought to reactivate fetal hemoglobin as a treatment for children and adults with SCD, the painful, sometimes life-threatening genetic disorder that deforms red blood cells and disrupts normal circulation.
In the normal course of development, a biological switch flips during the production of hemoglobin, the oxygen-carrying component of red blood cells. Regulatory elements in DNA shift the body from producing the fetal form of hemoglobin to producing the adult form instead. This transition occurs shortly after birth. When patients with SCD undergo this transition, their inherited gene mutation distorts adult hemoglobin, forcing red blood cells to assume a sickled shape. In the current study, Rupon and Blobel reprogrammed gene expression to reverse the biological switch, causing cells to resume producing fetal hemoglobin, which is not affected by the SCD mutation, and produces normally shaped red blood cells.
The scientists built on previous work by Blobel's team showing that chromatin looping, a tightly regulated interaction between widely separated DNA sequences, drives gene transcription -- the conversion of DNA code into RNA messages to carry out biological processes.
In the current study, the researchers used a specialized tool, a genetically engineered zinc finger (ZF) protein, which they custom-designed to latch onto a specific DNA site carrying the code for fetal hemoglobin. They attached the ZF to another protein that forced a chromatin loop to form. The loop then activated gene expression that produced embryonic hemoglobin in blood-forming cells from adult mice. The team obtained similar results in human adult red blood cells, forcing the cells to produce fetal hemoglobin.
Rupon and Blobel will continue investigations aimed at moving their research toward clinical application. Rupon added that the approach may also prove useful in treating other diseases of hemoglobin, such as thalassemia.
Living with Sickle Cell Disease http://www.wric.com/story/24263562/positively-richmond-living-with-sickle-cell-disease
RICHMOND (WRIC)—More than 100,000 people across the country suffer from sickle cell disease, a disorder that's more common in African-American families. In Virginia, one in 325 babies is born with the disease. Doctor visits at VCU Medical Center are just a normal part of life for Francis Churchill. He's been living with sickle cell disease for more than 47 years and has one word to describe it: chaos.
The disease keeps Churchill in constant pain. He's had dozens of surgeries, including four on his leg after developing an ulcer."I've had operations on almost every part of my body, especially my joints, because that's where sickle cell attacks—your joints," Churchill said. Sickle cell disease is an inherited blood disorder, and its main symptom is pain.
"Pain that causes hospitalization, pain that requires morphine and narcotics, pain that's unremitting—days, weeks at a time," said Dr. Wally Smith, director of the VCU Health Systems Adult Sickle Cell Program.
Search for sickle cell cure http://www.koaa.com/news/search-for-sickle-cell-cure/
Sickle cell disease is a hereditary blood disorder caused by a single genetic mutation The disease occurs more commonly among people whose ancestors lived in tropical and sub-tropical sub-saharan regions where malaria is or was common. Doctors researching the condition have been given a multi-million dollar grant to advance our knowledge of the illness. For those like the Overstreet family, the Aflac Cancer Center of Children's Healthcare of Atlanta is home away from home. Both children Madison and Landon Overstreet have sickle cell disease. The inherited blood disorder that changes the way blood circulates causes patients to sometimes have blockages that lead to inflammation, infections and severe pain. When Landon was still a baby he started having pain crisis, a debilitating hallmark of the disease.When Madison was three, a common cold virus quickly progressed to acute chest syndrome in which the blood starts to accumulate in the lungs making it hard to breathe. This potentially life-threatening complication is the focus of a new research grant just awarded to the Aflac Center. Researchers are trying to find the target that triggers acute chest syndrome.
FDA’s Sickle Cell Patient-Focused Drug Development Meeting:
This is a reminder about the upcoming public meeting on sickle cell disease, as part of FDA’s Patient-Focused Drug Development initiative. The purpose of the meeting is to hear patient perspectives on the health effects of sickle cell disease and on treating sickle cell disease. This meeting is free and open to the public. Please help us reach patients and caregivers! This is an important opportunity to bring the sickle cell disease patient’s voice to FDA; therefore, patient participation is essential. Please help us make this meeting a success by reaching out and encouraging patients, parents and other caregivers to attend Meeting information:Date: February 7, 2014 Time: 10:00 am – 4:00 pm Location: FDA White Oak campus Building 31 (Great Room) 10903 New Hampshire Avenue Silver Spring, MD 20993
Attendees can register through January 27, 2014 here: http://patientfocusedsicklecell.eventbrite.com/.
Contribute to the meeting dialogue!The meeting format maximizes patient participation. For each discussion topic, a small panel of patients or caretakers will prove brief comments to start the dialogue. The panel comments will be followed by a facilitated discussion with others in the audience. Patients or caregivers who would like to be considered for an opening panel can indicate that as part of registration. They will be asked to send a short summary of their responses to the discussion questions (posted on our registration site) toPatientFocused@fda.hhs.gov.
Live Webcast: A live webcast will be available for those unable to attend in person. Web participants will be able to submit comments as part of the discussion through the webcast. Please register for the webcast at http://patientfocusedsicklecell.eventbrite.com/. Send in Comments: Patients and anyone else who is interested can also share their perspectives by submitting a comment to FDA. Click here to send comments:http://www.regulations.gov/#!documentDetail;D=FDA-2013-N-1328-0001.
For more information:Please visit the FDA website: http://www.fda.gov/ForIndustry/UserFees/PrescriptionDrugUserFee/ucm370867.htm. This website also includes a series of background webinars on FDA and Patient-Focused Drug Development. Questions? Please contact Graham Thompson at 301-796-5003 or atGraham.Thompson@fda.hhs.gov.
&nbs! p; Sickle Cell News for November 2013
CDC Web based Sickle Cell Resources
CDC’s YouTube Link: http://www.youtube.com/watch?v=gnrvYsZWR1c&list=UUiMg06DjcUk5FRiM3g5sqoQ&index=2&feature=plpp_video CDC Video Archive (http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-health
CDC Sickle Cell Disease Webpage: http://wwwdev.cdc.gov/NCBDDD/sicklecell/video.html
Articles in the Medical Literature for December
Thromb Res. 2013 Dec 7. pii: S0049-3848(13)00573-2. doi: 10.1016/j.thromres.2013.12.008. [Epub ahead of print]
A phase 1 study of prasugrel in patients with sickle cell disease: Effects on biomarkers of platelet activation and coagulation.
Jakubowski JA1, Zhou C2, Jurcevic S3, Winters KJ2, Lachno DR4, Frelinger AL 3rd5, Gupta N2, Howard J6, Payne CD4, Mant TG7.
Abstract
INTRODUCTION:
Prasugrel, a P2Y12 adenosine diphosphate (ADP) receptor antagonist effectively inhibits ADP-mediated platelet activation and aggregation, and may be useful in reducing vaso-occlusive crises in sickle cell disease (SCD). In this study, we assess the effect of prasugrel on biomarkers of platelet activation and coagulation in patients with SCD.
MATERIALS AND METHODS:
Twelve adult patients with SCD and 13 healthy subjects were examined before and after 12±2days of 5.0 or 7.5mg/day oral prasugrel. Assessed cellular biomarkers included monocyte- and neutrophil-platelet aggregates, activated glycoprotein IIb-IIIa (GPIIbIIIa), P-selectin, CD40 ligand (CD40L), tissue factor (TF) expression on circulating platelets and on monocyte-platelet aggregates, and platelet-erythrocyte aggregates. Soluble biomarkers included CD40L, prothrombin fragment 1.2 (F1.2), thromboxane B2 (TXB2), P-selectin, and TF.
RESULTS:
Patients with SCD had increased platelet baseline activation compared to healthy subjects, as measured by percentages of monocyte-platelet aggregates, neutrophil-platelet aggregates, and platelets expressing CD40L. Likewise, baseline levels of soluble F1.2 and TXB2 were elevated in patients with SCD compared to healthy subjects. After 12days of prasugrel, patients with SCD had a significant reduction in platelet-monocyte aggregates that was not observed in healthy subjects. Following prasugrel administration, those with SCD maintained higher levels of monocyte-platelet aggregates and soluble F1.2, but had lower levels of platelet-erythrocyte aggregates and soluble TF compared to healthy subjects.
CONCLUSIONS:
These results provide evidence for chronic platelet activation in the SCD steady state, activation that was in part attenuated by prasugrel, thereby suggesting that ADP may mediate platelet activation in SCD.
PMID: 24368019 [PubMed - as supplied by publisher]
Related citations
2. Handb Clin Neurol. 2014;120:1015-25. doi: 10.1016/B978-0-7020-4087-0.00068-1.
Neurologic complications of sickle cell disease.
Venkataraman A1, Adams RJ2.
Abstract
Sickle cell disease (SCD) is a group of genetic blood disorders that vary in severity, but the most severe forms, primarily homozygous sickle cell anemia, are associated with neurologic complications. Over the last 90 years it has become established that some patients will develop severe arterial disease of the intracranial brain arteries and suffer brain infarction. Smaller infarctions and brain atrophy may also be seen and over time there appear to be negative cognitive effects in some patients, with or without abnormal brain imaging. Focal mononeuropathies and pneumococcal meningitis are also more common in these patients. Brain infarction in children can largely be prevented screening children beginning at age 2 years and instituting regular blood transfusion when the Doppler indicates high stroke risk (>200cm/sec). Iron overload and the uncertain duration of transfusion are disadvantages but overall this approach, tested in a randomized clinical trial, reduced first stroke by over 90%. Secondary stroke prevention has not been subjected to a randomized controlled trial except for one recently stopped comparison of regular transfusions compared to hydroxuyrea (results favored transfusion). The usual stroke prevention agents (such as aspirin or warfarin) have not been rigorously tested. Magnetic resonance imaging and positron emission tomography give evidence of subtle and sometimes overt brain injury due to stroke in many adults, but a preventive strategy for adults with SCD has not been developed. Bone marrow transplantation is the only cure, but some non-neurologic symptoms can be controlled in adults with hydroxuyrea. © 2014 Elsevier B.V. All rights reserved.
PMID: 24365368 [PubMed - in process]
Related citations
3. Mediterr J Hematol Infect Dis. 2013 Nov 7;5(1):e2013069. doi: 10.4084/MJHID.2013.069.
Iron Deficiency Anaemia among Pre-School Children with Sickle Cell Anaemia: Still a Rare Diagnosis?
Akodu SO, Kehinde OA, Diaku-Akinwumi IN, Njokanma OF.
Abstract
BACKGROUND:
The frequent need for blood transfusion in children with SCA creates the impression that IDA is rare in this class of children.
OBJECTIVES:
The objective of the study is to determine the prevalence of IDA in a population of under-five children with SCA in Lagos, Nigeria.
METHODOLOGY:
Serum iron, total iron binding capacity, transferrin saturation and serum ferritin were assayed in 97 under-five children with SCAand 97 age/sex matched controls. THE DIAGNOSIS OF IDA WAS ESTABLISHED BASED ON THE FOLLOWING CRITERIA: haemoglobin <11.0 g/dl plus two or more of the following: MCV <70fl, transferrin saturation (Ts) <16% or serum ferritin (SF) <25ng/dL.
RESULTS:
Overall prevalence of IDA was significantly higher among AA controls. In the younger age group, the prevalence of IDA was significantly higher among HbAA controls while in the older age group the odds of having IDA was three times higher among HbSS subjects but the difference was not statistically significant. Two of the three SCA children with IDA have history of previous blood transfusion.
CONCLUSION:
IDA is uncommon in pre-school aged children with SCA. A multi-centre study is necessary to yield large number of transfused subjects to examine the effects of blood transfusion on prevalence of IDA.
PMCID: PMC3867223 Free PMC Article
PMID: 24363884 [PubMed]
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4. Mediterr J Hematol Infect Dis. 2013 Nov 4;5(1):e2013062. doi: 10.4084/MJHID.2013.062.
Sickle cell disease: management options and challenges in developing countries.
Ansong D1, Akoto AO1, Ocloo D2, Ohene-Frempong K3.
Abstract
Sickle Cell Disease (SCD) is the most common genetic disorder of haemoglobin in sub-Saharan Africa. This commentary focuses on the management options available and the challenges that health care professionals in developing countries face in caring for patients with SCD. In a developing countries like Ghana, new-born screening is now about to be implemented on a national scale. Common and important morbidities associated with SCD are vaso-occlusive episodes, infections, Acute Chest Syndrome (ACS), Stroke and hip necrosis. Approaches to the management of these morbidities are far advanced in the developed countries. The differences in setting and resource limitations in developing countries bring challenges that have a major influence in management options in developing countries. Obviously clinicians in developing countries face challenges in managing SCD patients. However understanding the disease, its progression, and instituting the appropriate preventive methods are paramount in its management. Emphasis should be placed on early counselling, new-born screening, anti-microbial prophylaxis, vaccination against infections, and training of healthcare workers, patients and caregivers. These interventions are affordable in developing countries.
PMCID: PMC3867228 Free PMC Article
PMID: 24363877 [PubMed]
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5. Paediatr Respir Rev. 2013 Nov 15. pii: S1526-0542(13)00145-0. doi: 10.1016/j.prrv.2013.11.003. [Epub ahead of print]
Differences in the clinical and genotypic presentation of sickle cell disease around the world.
Saraf SL1, Molokie RE2, Nouraie M3, Sable CA4, Luchtman-Jones L5, Ensing GJ6, Campbell AD7,Rana SR8, Niu XM3, Machado RF9, Gladwin MT10, Gordeuk VR11.
Abstract
Sickle cell disease (SCD), caused by a mutation in the β-globin gene HBB, is widely distributed in malaria endemic regions. Cardiopulmonary complications are major causes of morbidity and mortality. Hemoglobin SS (Hb SS) represents a large proportion of SCD in the Americas, United Kingdom, and certain regions of Africa while higher proportions of hemoglobin SC are observed in Burkina Faso and hemoglobin Sβ-thalassemia in Greece and India. Coinheritance of α-thalassemia and persistence of hemoglobin F production are observed in highest
Scientists Use Light to Uncover the Cause of Sickle Cell Disease
Nov. 5, 2013 — In sickle cell disease, hemoglobin -- the oxygen-carrying component of blood -- forms fibers that stiffen red blood cells and cause life-threatening symptoms. Using light-scattering techniques to study the detailed thermodynamics of this process, researchers reporting in the November 5 issue of the Biophysical Journal, a Cell Press publication, have determined the strength of the forces that hold these fibers intact. The information could be used to design therapies that interfere with the sickling process.
Red blood cells resemble beanbags whose contents are molecules of hemoglobin that give the cells their "squishiness" by slipping past one another rather than sticking together. This is no easy feat, because the molecules have positive and negative charges spread around their surfaces, as well as oily patches that repel water and thus provide natural partners. Yet it's thought that when two places of mutual attraction meet, locations of repulsion also come together and keep the net sum of attraction at zero.
In rare cases, such as sickle cell disease, a mutation in hemoglobin disrupts this delicate cancellation of attractive spots, and large stiff fibers, or polymers, of hemoglobin form inside normally pliable red blood cells.
Dr. Frank Ferrone, of Drexel University in Philadelphia, and Dr. Yihua Wang, currently at the Mayo Clinic in Rochester, discovered that the cancellation is not as perfect as previously thought, however. In fact, hemoglobin molecules do indeed associate, especially when the temperature is high or when hemoglobin solutions are concentrated. "This is true for normal hemoglobin, and even more pronounced for sickle hemoglobin," says Dr. Ferrone. His team found that under physiological conditions, sickle cell hemoglobin molecules are more likely to be found in pairs than as solitary molecules.
The researchers made these discoveries while conducting experiments with light-scattering techniques: they measured how rays of light are deflected by sickle hemoglobin fibers in order to calibrate the strength of the connections that hold them together. "By comparing the propensity of molecules of sickle hemoglobin to associate into pairs with the propensity of normal hemoglobin to do so, the relative strengths of the two major bonds within the sickle polymer were determined. The sickle cell mutation site was far stronger," Dr. Ferrone explains. "This makes the sickle hemoglobin polymers behave much like long tiny coil springs and helps us to understand their stiffness, which causes so much difficulty for affected individuals."
The findings could lead to new drug therapies that target the regions of hemoglobin that are responsible for polymer formation Arginine therapy shows promise for sickle cell pain
Arginine therapy may be a safe and inexpensive treatment for acute pain episodes in patients with sickle cell disease, according to results of a recent clinical study. The study was the first randomized placebo-controlled study to demonstrate benefits of arginine therapy in children with sickle cell disease hospitalized for severe pain. Sickle cell disease is an inherited condition in which the body makes red blood cells containing abnormal hemoglobin, the protein that carries oxygen from the lungs to other cells in the body. This abnormal hemoglobin (hemoglobin S) causes red blood cells to distort into a sickle, or crescent shape that often blocks blood flow in small blood vessels, leading to pain and organ damage.
An acute deficiency of nitric oxide in sickled red blood cells contributes to the episodes of blocked vessels and pain. Since the amino acid arginine is a building block of nitric oxide, researchers hypothesized that arginine could be a beneficial treatment for pain related to sickle cell disease.
Previous research found that a single dose of arginine given to sickle cell patients with acute pain episodes resulted in a significant dose-dependent increase in plasma nitric oxide. Building on that knowledge, the current research study was a randomized, double blind clinical trial of 38 children with sickle cell disease hospitalized for 56 episodes of pain. The research team discovered a 54 percent reduction in the use of pain medication and significantly lower pain scores at hospital discharge in those treated with arginine over those receiving placebo.
The results were published in the journal Haematologica. First author was Claudia R. Morris, MD, assistant professor of pediatrics at Emory University School of Medicine. She conducted the study while in her previous position at Children’s Hospital and Research Center in Oakland, CA, with senior author Elliott P. Vichinsky, MD.
“Episodes of pain due to vaso-occlusion are the leading cause of hospital admission and emergency room visits and are associated with increased mortality, yet there is no effective therapy targeting the underlying cause,” says Morris. “Treatment consists only of symptom relief with pain medicines and hydration. There is an urgent need for new therapies for acute sickle cell pain, and a greater than 50 percent reduction in use of pain medication was a remarkable finding.” The study found no problems with safety in the use of arginine therapy. Although the treatment did not result in a significantly shorter length of stay in the hospital, the researchers believe delivering the study drug as early as possible in the emergency department or clinic may have a greater impact on length of stay, since many patients received their first dose of medication more than 24 hours after presenting at the hospital. A large, multi-center trial is warranted in order to confirm these observations and test the effects of delivering the therapy sooner, they note in the published paper. Full text article at http://www.haematologica.org/content/98/9/1375.full.pdf+html
The St. Jude Children’s Research Hospital-led national BABY HUG trial linked hydroxyurea to a 21 percent reduction in annual medical costs for young children with sickle cell anemia; savings expected to grow
A drug proven effective for treatment of adults and children with sickle cell anemia reduced hospitalizations and cut annual estimated medical costs by 21 percent for affected infants and toddlers, according to an analysis led by St. Jude Children’s Research Hospital. The report appears in the advance online edition of the journal Pediatrics.
The study is the largest ever focusing on the economic impact of the drug hydroxyurea in children with the inherited blood disorder. The result supports expanded use of the drug to extend the length and quality of life for sickle cell anemia patients of all ages, said Winfred Wang, M.D., a member of the St. Jude Department of Hematology and principal investigator of the multicenter federally funded trial known as BABY HUG.
“We estimate that hydroxyurea cut overall annual medical expenses about $3,000 for each patient by helping patients avoid disease complications that require inpatient hospital care,” said Wang, who is first and corresponding author of the Pediatrics study. “We expect those savings will grow along with patients, whose symptoms often increase in severity and frequency as they age.”
About 100,000 individuals in the U.S. and millions worldwide have sickle cell disease, which leaves them at risk for premature death and disability. The disease is the most common genetic disorder affecting African-American individuals, but those from other ethnic and racial backgrounds also inherit mutations in the hemoglobin gene. The mutations result in blood cells that are prone to assuming the sickled shape that gives the disease its name and that leave patients at increased risk for episodes of acute pain, stroke, organ damage and other complications.
The analysis comes two years after Wang and his colleagues reported that hydroxyurea reduced episodes of acute pain and pneumonia-like illness, eased other symptoms, reduced the need for blood transfusions and cut hospitalizations for infants and toddlers with sickle cell anemia. Sickle cell anemia is the most common and severe form of sickle cell disease.
Earlier studies had demonstrated that adults and adolescents with the disease benefited from hydroxyurea. BABY HUG showed the drug, which is inexpensive and easy to administer, was safe and effective for young children. The study involved 193 children who were 9 to 18 months old when they enrolled at one of the 13 participating medical centers. The children were randomly assigned to receive either a daily dose of hydroxyurea for two years or an inactive look-alike. Continued concern about U.S. health care spending prompted BABY HUG researchers to retrospectively assess hydroxyurea’s impact on treatment costs. Investigators used a national database of Medicaid expenditures to estimate the 2009 cost of caring for BABY HUG participants. Medicaid is the state-federal health insurance program that covers lower income and disabled children and adults. The six-year BABY HUG study ended in 2009.
The results showed that hydroxyurea was associated with higher outpatient costs, but lowered overall expenditures. Children who received the drug were hospitalized 232 times during the study, compared to 324 hospitalizations for those in the placebo group. The estimated annual treatment cost $11,072 for children who received hydroxyurea compared to $13,962 for children who received the placebo.
Wang said actual savings associated with hydroxyurea treatment are likely greater, since medical costs are roughly 25 percent less for children enrolled in Medicaid than for those with private health insurance. The analysis was unable to capture all treatment-related costs. “The analysis also could not capture the anxiety patients and family experience when children must be hospitalized,” Wang said.
Hydroxyurea was developed in the 1960s as a possible anti-cancer agent. It won approval for treatment of adults and later adolescents with sickle cell anemia in 1998 following evidence that the drug reduced episodes of severe pain and improved patient quality of life.
The drug works by increasing production of fetal hemoglobin, a form of the oxygen-carrying protein that is unaffected by the mutations that cause sickle cell disease. Fetal hemoglobin normally drops dramatically after birth. Hydroxyurea, however, increases production of red blood cells that contain that form of hemoglobin.
The drug remains an underutilized treatment for sickle cell anemia. Wang estimated the drug is prescribed to about 30 percent of pediatric patients nationwide and an even smaller percentage of adults. Work is underway at St. Jude and other medical centers to identify and address barriers to more widespread use of the drug, including lingering concerns about possible long-term toxicity.
New Bone Marrow Transplant Web Resources for Patients and Providers _ Haplo Bone Marrow Transplant for Sickle Cell Disease Consortium http://www.sicklecelltransplantconsortium.org
This recently formed multi-institutional group offers curative transplants to children and adolescents with severe sickle cell disease who do not have HLA-matched donors. The approach uses a family (usually preferably mother) haplo-identical donor. The donor stem cell product then undergoes T-cell depletion via CD34 selection to remove allo-reactive cells that could cause graft versus host disease (GVHD).
Currently two patients with sickle cell disease have been successfully transplanted using this approach. Both of these patients are doing well approximately 1 year from their transplant and have no GVHD. Other patients are in the process of starting the conditioning regimen.
Families and patients who are interested in learning more about this exciting cure should be referred to one of the participating clinical sites
http://www.sicklecelltransplantconsortium.org/clinical-sites.html or call Sandi Foley at 914-594-4333. For information please also see http://clinicaltrials.gov/show/NCT01461837 .
Community Forum on Future Directions for Sickle Cell Disease Treatment Demonstration Program
NICHQ, together with the Health Resources and Services Administration (HRSA), will be hosting a community forum to discuss the Sickle Cell Disease Treatment Demonstration Program. Please join us to hear HRSA’s vision for the direction of the program and to provide your feedback.
Healthcare Professionals Webinar Information
Date: Wednesday, December 18
Time: 3:00-4:30pm (ET)
Location: Online Webinar: [call in information available when registering]
You can REGISTER for the webinar here: http://www.cvent.com/d/j4qkk9
Patients and Families Webinar Information
Date: Thursday, December 12
Time: 3:00-4:30pm (ET)
Location: Online Webinar: [call in information available when registering]
You can REGISTER for the webinar here: http://www.cvent.com/d/j4qkk9
Background and Mission of the SCD Treatment Demonstration Program
 In 2004, Congress enacted PL 108-357, which included the authorization of the SCDTDP
 The stated purpose of this program was to develop and implement “systemic mechanisms” to enhance treatment of sickle cell disease to:  Improve coordination and service delivery for individuals with sickle cell disease and trait
 Improve access to services
 Improve and expand patient and provider education
 Mission: To improve care and outcomes for persons with Sickle Cell Disease
This event will be hosted by NICHQ, a non-profit dedicated to improving the systems that deliver health care to children and families. For more information about NICHQ, please visit www.nichq.org.
New Videos
James R. Eckman, MD Sickle Cell Scientific Symposium Saturday, November 16, 2013
Period
These are the video lectures from the symposium. PDF handouts will be available at http://scinfo.org/world-wide-resources/james-r-eckman-md-sickle-cell-scientific-symposium
Words of Thanks to Dr. James Eckman Christian Larsen, MD, DPhil J. William Eley, MD,MPH
Welcome/Introductions Fadlo Khuri, MD and Ruth O’Regan, MD
The Georgia Comprehensive Sickle Cell Center at Grady Health Sysytem A Medical Home for Sickle Cell Disease Allan F. Platt, PA-C,
MMScmms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/Eckman/Eckmanintro.wmv
Mechanisms for SCD Neurocognitive Impairment and Options forTreatment: Look What Comes from Talking About Things to Include in the Discussion Section of a Paper
F. Daniel Armstrong, PhD
mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/Eckman/armstrong.wmv
Water, Water Everywhere, and Still the Cells Did Shrink…Red Cell Dehydration in Sickle Cell Disease Clinton Joiner, MD, PhD
mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/Eckman/Joiner.wmv
Renal Complications of Sickle Cell Disease:Progress and Promise Antonio Guasch, MD
mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/Eckman/Guasch.wmv
Sickle Cell Disease: Lessons Learned in the Past Four Decades Abdullah Kutlar, MD mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/Eckman/Kutlar.wmv
Clinical Aspects of Sickle Cell Disease: A Coat of Many Colors Kathryn Hassell, MD mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/Eckman/Hassell.wmv
Hematopoietic Cell Transplantation for Sickle Cell Disease Mark Walters, MD mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/Eckman/Walters.wmv
Transfusion Consequences: Good, Bad and?? Cage Johnson, MD mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/Eckman/Johnson.wmv
Microvascular Flow Dynamics: A 'Sticky' Problem in Sickle Cell Disease Timothy Wick, PhD mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/Eckman/Wick.wmv
Closing Remarks and Special Presentations James Eckman, MD mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/Eckman/Closingremarks.wmv
Oct 24, 2013: Current Data on Efficacy and Effectiveness of Hydroxyurea in Children with Sickle Cell Disease
Dr. Winfred Wang, St. Jude Children’s Research Hospital
mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDC102913.wmv
Nov 7, 2013: Improved Survival of Children and Adolescents with Sickle Cell Disease
Dr. Charles Quinn, Cincinnati Children's Hospital Medical Center
mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDC111313.wmv
...
CDC Web based Sickle Cell Resources
CDC’s YouTube Link: http://www.youtube.com/watch?v=gnrvYsZWR1c&list=UUiMg06DjcUk5FRiM3g5sqoQ&index=2&feature=plpp_video
CDC Video Archive (http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-health
CDC Sickle Cell Disease Webpage: http://wwwdev.cdc.gov/NCBDDD/sicklecell/video.html
Articles in the Medical Literature for November
1. Pediatr Blood Cancer. 2013 Nov 19. doi: 10.1002/pbc.24864. [Epub ahead of print]
Use of a clinical pathway to improve the acute management of vaso-occlusive crisis pain in pediatric sickle cell disease.
Ender KL, Krajewski JA, Babineau J, Tresgallo M, Schechter W, Saroyan JM,Kharbanda A.
Department of Pediatrics, Division of Pediatric Hematology, Oncology, and Stem Cell Transplant, Columbia University, Medical Center, New York, New York. Abstract
BACKGROUND:
The most common, debilitating morbidity of sickle cell disease (SCD) is vaso-occlusive crisis (VOC) pain. Although guidelines exist for its management, they are generally not well-followed, and research in other pediatric diseases has shown that clinical pathways improve care. The purpose of our study was to determine whether a clinical pathway improves the acute management of sickle cell vaso-occlusive crisis (VOC) pain in the pediatric emergency department (PED).
PROCEDURE:
Pain management practices were prospectively investigated before and after the initiation of a clinical pathway in the PED of an urban, tertiary care center with 50,000 ED visits per year and approximately 200 active sickle cell patients. The pathway included instructions for triage, monitoring, medication administration, and timing of assessments and interventions. Data were eligible from 35 pre-pathway and 33 post-pathway visits. Primary outcome was time interval to administration of first analgesic medication. Statistical analysis was by Student's t-test, using natural-log-transformed data for outcomes with skewed distribution curves.
RESULTS:
Time interval to first analgesic improved from 74 to 42 minutes (P = 0.012) and to first opioid from 94 to 46 minutes (P = 0.013). The percentage of patients who received ketorolac increased from 57% to 82% (P = 0.03). Decrease in time interval to subsequent pain score assessment was not statistically significant (110 to 72 minutes (P = 0.07)), and change in pain score was not different (P = 0.25).
CONCLUSIONS:
The use of a clinical pathway for sickle cell VOC in the PED can improve important aspects of pain management and merits further investigation and implementation. Pediatr Blood Cancer 2013;9999:1-4. © 2013 Wiley Periodicals, Inc.
© 2013 Wiley Periodicals, Inc.
PMID: 24249617 [PubMed - as supplied by publisher]
Related citations
2. J Clin Gastroenterol. 2013 Nov 15. [Epub ahead of print]
Abdominal Pain in Children With Sickle Cell Disease.
Rhodes MM, Bates DG, Andrews T, Adkins L, Thornton J, Denham JM.
*Nationwide Children's Hospital †Department of Pediatrics, The Ohio State University, Columbus, OH.
Abstract
The differential diagnosis of abdominal pain is broad in any child, and further complicated in children with sickle cell disease (SCD). Acute causes of abdominal pain may require emergent surgery, such as for appendicitis or obstruction caused by a bezoar. Rapid intervention is necessary and life-saving in children with SCD and acute splenic or hepatic sequestration. The majority of children with SCD presenting to the physician's office or emergency department will have subacute reasons for their abdominal pain, including but not limited to constipation, urinary tract infection, peptic ulcer disease, and cholecystitis. Vaso-occlusive pain often presents in children as abdominal pain, but is a diagnosis of exclusion. The case of a 10-year-old girl with intermittent abdominal pain is used as a starting point to review the pathophysiology, diagnosis, and treatment of the most acute and common causes of abdominal pain in children with SCD.
PMID: 24247814 [PubMed - as supplied by publisher]
Related citations
3. Cochrane Database Syst Rev. 2013 Nov 14;11:CD003146. [Epub ahead of print]
Blood transfusion for preventing primary and secondary stroke in people with sickle cell disease.
Wang WC, Dwan K.
Department of Hematology, St Jude Children's Research Hospital, 262 Danny Thomas Place, Mail Stop 800, Memphis, Tennessee 38105, USA.
Abstract
BACKGROUND:
In sickle cell disease, a common inherited haemoglobin disorder, abnormal haemoglobin distorts red blood cells, causing anaemia, vaso-occlusion and dysfunction in most body organs. Without intervention, stroke affects around 10% of children with sickle cell anaemia (HbSS) and recurrence is likely. Chronic blood transfusion dilutes the sickled red blood cells, reducing the risk of vaso-occlusion and stroke. However, side effects can be severe.
OBJECTIVES:
To assess risks and benefits of chronic blood transfusion regimens in people with sickle cell disease to prevent first stroke or recurrences. SEARCH METHODS:
We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register, comprising references identified from comprehensive electronic database searches and handsearches of relevant journals and conference proceedings.Date of the latest search of the Group's Haemoglobinopathies Trials Register: 28 January 2013.
SELECTION CRITERIA:
Randomised and quasi-randomised controlled trials comparing blood transfusion as prophylaxis for stroke in people with sickle cell disease to alternative or no treatment.
DATA COLLECTION AND ANALYSIS:
Both authors independently assessed the risk of bias of the included trials and extracted data.
MAIN RESULTS:
Searches identified three eligible randomised trials (n = 342). The first two trials addressed the use of chronic transfusion to prevent primary stroke; the third utilized the drug hydroxycarbamide (hydroxyurea) and phlebotomy to prevent both recurrent (secondary) stroke and iron overload in patients who had already experienced an initial stroke. In the first trial (STOP) a chronic transfusion regimen for maintaining sickle haemoglobin lower than 30% was compared with standard care in 130 children with sickle cell disease judged (through transcranial Doppler ultrasonography) as high-risk for first stroke. During the trial, 11 children in the standard care group suffered a stroke compared to one in the transfusion group, odds ratio 0.08 (95% confidence interval 0.01 to 0.66). This meant the trial was terminated early. The transfusion group had a high complications rate, including iron overload, alloimmunisation, and transfusion reactions. The second trial (STOP II) investigated risk of stroke when transfusion was stopped after at least 30 months in this population. The trial closed early due to a significant difference in risk of stroke between participants who stopped transfusion and those who continued as measured by reoccurrence of abnormal velocities on Doppler examination or the occurrence of overt stroke in the group that stopped transfusion. The third trial (SWiTCH) was a non-inferiority trial comparing transfusion and iron chelation (standard management) with hydroxyurea and phlebotomy (alternative treatment) with the combination endpoint of prevention of stroke recurrence and reduction of iron overload. This trial was stopped early after enrolment and follow up of 133 children because of analysis showing futility in reaching the composite primary endpoint. The stroke rate (seven strokes on hydroxyurea and phlebotomy, none on transfusion and chelation, odds ratio 16.49 (95% confidence interval 0.92 to 294.84)) was within the non-inferiority margin, but the liver iron content was not better in the alternative arm.
AUTHORS' CONCLUSIONS:
The STOP trial demonstrated a significantly reduced risk of stroke in participants with abnormal transcranial Doppler ultrasonography velocities receiving regular blood transfusions. The follow-up trial (STOP 2) indicated that individuals may revert to former risk status if transfusion is discontinued. The degree of risk must be balanced against the burden of chronic transfusions. The combination of hydroxyurea and phlebotomy is not as effective as "standard" transfusion and chelation in preventing secondary stroke and iron overload. Ongoing multicentre trials are investigating the use of chronic transfusion to prevent silent infarcts, the use of hydroxyurea as an alternative to transfusion in children with abnormal transcranial Doppler ultrasonography velocities, and the use of hydroxyurea to prevent conversion of transcranial Doppler ultrasonography velocities from conditional (borderline) to abnormal values. PMID: 24226646 [PubMed - as supplied by publisher]
Related citations
... Sickle Cell News for October 2013
Children's-Emory receive $10M grant for sickle cell research
Children’s Healthcare of Atlanta and Emory University have received a grant of almost $10 million to target lung damage that causes death in children with sickle cell disease.
Sickle Cell Disease is the most common single-gene disorder in the nation, affecting about 100,000 Americans, according to a statement.
The National Heart Lung and Blood Institute grant will provide about $2 million in funding annually over five years, is aimed at helping find a treatment that could stem a complication of sickle cell disease called “acute chest syndrome.”
Acute chest syndrome damages the lungs, causing them to fill with fluid and sometimes resulting in respiratory failure.
Specifically, the grant calls for Emory and the Aflac Cancer and Blood Disorders Center of Children’s Healthcare of Atlanta to accomplish two key goals — find a drug that would protect, stop or stem lung damage in sickle cell patients; and develop innovative therapies for sickle cell and its complications.
The Aflac Cancer Center was a frontrunner for the grant because it treats the largest population of sickle cell patients in the nation and focuses on acute chest syndrome.
Emory won the grant because of its research on a receptor called the Toll-like receptor #4 or TLR-4.
This receptor is tied to the often-deadly process that occurs in sickle cell patients, in which heme, released from hemoglobin when sickle red blood cells are fragmented in the circulation, triggers a toxic inflammatory response by TLR-4 that damages the lungs. This creates a vicious cycle of more heme being released, and more lung damage occurring, sometimes until the patient dies.
The grant aims to prove that the TLR-4 receptor is the key to acute chest syndrome; and to find a drug, or a biological agent that could block the TLR-4 from performing its deadly task, the statement noted.
New Study Findings: Invasive Pneumococcal Disease among Children with and without Sickle Cell Disease in the United States, 1998-2009
The journal Pediatric Infectious Diseases recently published a CDC study “Invasive Pneumococcal Disease among Children with and without Sickle Cell Disease in the United States, 1998-2009.” A summary of the key findings from this article is shown in the screen capture below. To review these findings and their implications, please click here.
From the American Academy of Pediatrics - Need affordable health insurance for your family? http://aapnews.aappublications.org/content/34/10/40.5.full.pdf+html
By January 1, almost all Americans must have health insurance. If you do not have health insurance, you may have to pay a fee. The requirement is part of the Affordable Care Act, the health care law signed by President Obama in 2010. Now is a good time to see what health insurance benefits are best for your family and whether you qualify for a lower cost plan. If your family already has health insurance through an employer, thereis no need to change anything. Children under age 26 can be covered on their parents’ health plan. If you do not have health insurance, you can find options through yourstate’s Health Insurance Marketplace. You can sign up for an insurance plan during the open enrollment period, Oct. 1 through March 31. After March 31, you can make changes to your insurance if there is a life change, such as a new baby, a change in income or job change/loss.
Families who have used Medicaid or a Children’s Health Insurance Program state-funded plan should make sure they still are able to get the same benefits. Under the new health insurance options, for example, some families may have children who will stay on Medicaid while parents buy their own health insurance through the Health Insurance Marketplace, an insurance company or a broker.
If your family needs health insurance, here’s what to do:Step 1: Visit the American Academy of Pediatrics’ Healthy Children website, www.healthychildren.org/ACAmarketplace,
which explains the Affordable Care Act and the Health Insurance Marketplace. Look for the map and click on your state to find out where to get help. You also can go to http://www.healthcare.gov/or call 800-318-2596 to get information on choosing
and enrolling in a plan.
Step 2: Is your child’s primary care doctor a pediatrician? Your pediatrician knows what care your child should get and when. New insurance plans now cover the cost of preventive care (checkups). Anyone 19 years old or younger with a preexisting
condition must be insured, by law. People age 26 and younger who were in foster care at age 18 can sign up to be insured by Medicaid starting on Jan. 1. Step 3: Look at all options and prices. When deciding whether to use a marketplace plan or private insurance, consider that the marketplace price is based on family size and income. Choose what is best for your family.
From the SCDAA - How does the ACA protect you as an individual living with sickle cell disease? SCDAA wants to point out how ACA can improve the healthcare of people with sickle cell disease.
1. Insurers can no longer deny coverage to anyone with a chronic or pre-existing health condition such as sickle cell disease. Children and adults are now able to get insurance that covers treatment of their illnesses.
2. Lifetime caps on coverage have been removed and insurers have to set annual limits on essential health services at a minimum of $750,000. What does this mean? This means that health insurance companies cannot deny coverage to anyone with a chronic health condition such as sickle cell disease. Furthermore, your health insurance company can no longer set a limit on how much of your health care costs they will pay forever, this is known as "lifetime cap".
Tanzania Marks Sickle Cell Awareness Month
This September, Tanzania marked the Sickle Cell Awareness Month- September through various activities conducted with the main aim of raising awareness of the disease and improving lives. On 23rd September 2013, Dr. Stella, Head of Clinical Haematology at the Muhimbili National Hospital together with the Honeymoon Aljabri, Director of Motion Arts Production Tanzania (MAPTz) held a press conference at the Maelezo House in Dar-es-salaam to talk about the disease and various activities to be done for the Sickle Cell Awareness Month. They went on to appear at two big television stations in the country; TBC and EATV and give talks on national radio stations; TBC FM and East Africa Radio. Their appearances were also to give health education to the general public about the disease and urged individuals to get tested at the Muhimbili National Hospital. This is the national referral hospital which has a Sickle Cell Disease (SCD) cohort
On 28th September 2013, MAPTz organized and orchestrated a 5Km walk for Sickle Cell in Dar-es-salaam, Tanzania. Participants walked from The National Stadium, then along Kilwa Road and back to the stadium. The motto of the walk was “Fight Sickle Cell Out of Tanzania” a message meant to inspire people to get tested with their families In order to prevent mortality from SCD. Dr. Stella of Muhimbili National Hospital once again talked about the disease but also mentioned challenges currently incurred by health care professionals in SCD Management.
Leading up to the campaign, Motion Arts Production Tanzania conducting a “Fight Sickle Cell Out of Africa Campaign” in Houston, Texas. More about this can be found on: http://www.newafricatv.com/tv-shows/fight-sickle-cell-out-of-africa
Linking Screening and Support for Sickle Cell –A report from Georgia
New Videos
Sept 26, 2013: The Road to the Evidence Based Management of Sickle Cell Disease: Expert Panel Report
mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDC092613.wmv
CDC Web based Sickle Cell Resources
CDC’s YouTube Link: http://www.youtube.com/watch?v=gnrvYsZWR1c&list=UUiMg06DjcUk5FRiM3g5sqoQ&index=2&feature=plpp_video
CDC Video Archive (http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-health
CDC Sickle Cell Disease Webpage: http://wwwdev.cdc.gov/NCBDDD/sicklecell/video.html
Articles in the Medical Literature for October
1. J Public Health (Oxf). 2013 Oct 29. [Epub ahead of print]
Socio-economic deprivation and risk of emergency readmission and inpatient mortality in people with sickle cell disease in England: observational study. Aljuburi G, Laverty AA, Green SA, Phekoo KJ, Bell D, Majeed A.
Department of Primary Care and Public Health, Imperial College London, London W6 8RP, UK.
Abstract
BACKGROUND:
Sickle cell disease (SCD) is a cause of frequent emergency readmissions. We examined trends in SCD emergency readmissions and inpatient mortality in England in relation to socio-economic status.
METHODS:
Data from Hospital Episode Statistics were extracted for all SCD patients admitted in 2005/06. The financial year 2005/06 was taken as the index year for analysis. We calculated readmission rates and inpatient mortality for patients admitted with a primary or secondary diagnosis of sickle cell anaemia with crisis and without crisis in the index year during the subsequent 5 years (2006/07-2010/11). Charlson Score was used to measure comorbidity. Using Cox proportional hazards models, we also examined the relationship between patient characteristics and both emergency readmissions and inpatient mortality.
RESULTS:
In 2005/06, there were 7679 SCD index admissions. Over the subsequent 5-year period, patients living in the most socio-economically deprived areas were at highest risk of readmission (54.2% readmitted over the study period compared with 28% of the least deprived group). Inpatient mortality amongst readmissions was highest in patients living in the most deprived areas [hazard ratio (HR) 2.34, 95% CI 1.41-3.90].
CONCLUSION:
SCD patients from the most socio-economically deprived areas and with comorbidities are at highest risk of both SCD readmissions and in-hospital mortality, suggesting that there are inequalities in healthcare access and health outcomes amongst people with SCD.
PMID: 24169414 [PubMed - as supplied by publisher]
Related citations
2. Pediatrics. 2013 Oct 28. [Epub ahead of print]
Association of Hospital and Provider Types on Sickle Cell Disease Outcomes.
Jan S, Slap G, Smith-Whitley K, Dai D, Keren R, Rubin DM.
Department of Medicine, and.
Abstract
OBJECTIVES:
Adolescents and young adults (A/YA) with sickle cell disease (SCD) are hospitalized in both children's and general hospitals. We determined the effect of hospital type and provider specialty on outcomes of hospitalized A/YA with SCD and acute chest syndrome (ACS).METHODS:This retrospective cohort study used the 2007-2009 Premier Database, a large multi-institutional database, to identify 1476 patients ages 16 to 25 years with 2299 admissions with SCD and ACS discharged from 256 US hospitals from 2007 to 2009. Multilevel logistic regression and zero-truncated negative binomial regression were performed after adjustment for patient demographic, clinical, and hospital characteristics to test the association of hospital type and provider specialty on death, endotracheal intubation, simple or exchange transfusion, length of stay (LOS), and 30-day readmission.RESULTS:Of all admissions, 14 died and 45% were intubated. General hospitals had 13 deaths and were associated with higher intubation rates (predicted probability [PP], 48% [95% confidence interval (CI), 43%-52%]) and longer LOS (predicted mean LOS, 7.6 days [95% CI, 7.2-7.9]) compared with children's hospitals (PP of intubation, 24% [95% CI, 5%-42%]; and predicted mean LOS, 6.8 days [95% CI, 5.6-5.8]). There was no difference by hospital type or provider specialty in PP of simple or exchange transfusion, or 30-day readmission.CONCLUSIONS:General hospitals carry higher intubation risks for A/YA with SCD and ACS compared with children's hospitals. We need to better understand the drivers of these differences, including the role of staff expertise, hospital volume, and quality of ongoing SCD care.
PMID: 24167173 [PubMed - as supplied by publisher]
Related citations
3. Pediatr Blood Cancer. 2013 Oct 26. doi: 10.1002/pbc.24838. [Epub ahead of print]
Neuropathic pain in patients with sickle cell disease.
Brandow AM, Farley RA, Panepinto JA.
Section of Pediatric Hematology/Oncology, Milwaukee, Wisconsin; Medical College of Wisconsin, Milwaukee, Wisconsin; Children's Research Institute of the Children's Hospital of Wisconsin, Milwaukee, Wisconsin.
Abstract
BACKGROUND:
Despite the suggestion of a neuropathic component to sickle cell disease (SCD) pain, there are minimal data on the systematic assessment of neuropathic pain in patients with SCD. Neuropathic pain is defined as pain primarily initiated by dysfunction of the peripheral or central nervous system.
PROCEDURE:
In a cross-sectional study, we used the painDETECT questionnaire, a one-page validated neuropathic pain screening tool, to determine the presence of neuropathic pain in patients with SCD and to evaluate the relationship between neuropathic pain, age, and gender. We hypothesized that 20% of patients with SCD will experience neuropathic pain and that neuropathic pain will be associated with older age and female gender. The completed painDETECT questionnaire yields a total score between 0 and 38 (≥19 = definite neuropathic pain, 13-18 = probable neuropathic pain, ≤12 = no neuropathic pain). Scores ≥13 were designated as having evidence of neuropathic pain.
RESULTS:
A total of 56 patients participated. Median age was 20.3 years and 77% were female. We found 37% of patients had evidence of neuropathic pain. Age was positively correlated with total score (r = 0.43; P = 0.001) suggesting older patients experience more neuropathic pain. Females had higher mean total scores (13 vs. 8.4; P = 0.04). Significantly more patients with neuropathic pain were taking hydroxyurea (90% vs. 59%; P = 0.015). Despite 37% of patients experiencing neuropathic pain, only 5% were taking a neuropathic pain drug.
CONCLUSIONS:
Neuropathic pain exists in SCD. Valid screening tools can identify patients that would benefit from existing and future neuropathic pain therapies and could determine the impact of these therapies. Pediatr Blood Cancer © 2013 Wiley Periodicals, Inc. © 2013 Wiley Periodicals, Inc.
PMID: 24167104 [PubMed - as supplied by publisher]
Related citations
4. Clin Chem. 2013 Oct 24. [Epub ahead of print]
Newborn Blood Spot Screening for Sickle Cell Disease by Using Tandem Mass Spectrometry: Implementation of a Protocol to Identify Only the Disease States of Sickle Cell Disease.
Moat SJ, Rees D, King L, Ifederu A, Harvey K, Hall K, Lloyd G, Morell C, Hillier S.
Wales Newborn Screening Laboratory, Department of Medical Biochemistry, Immunology & Toxicology, and.
Abstract
BACKGROUND:
The currently recommended technologies of HPLC and isoelectric focusing for newborn blood spot screening for sickle cell disease (SCD) identify both the disease and carrier states, resulting in large numbers of infants being followed up unnecessarily. Analysis of blood spot tryptic peptides performed by using tandem mass spectrometry (MS/MS) is an alternative technology to detect hemoglobin (Hb) variant disorders.METHODS: We analyzed 2154 residual newborn blood spots and 675 newborn blood spots from infants with Hb variants by using MS/MS after trypsin digestion. Screening cutoffs were developed by using the ratio between the variant peptide-to-wild-type peptide abundance for HbS, C, DPunjab, OArab, Lepore, and E peptides. A postanalytical data analysis protocol was developed using these cutoffs to detect only the disease states of SCD and not to identify carrier states. A parallel study of 13 249 newborn blood spots from a high-prevalence SCD area were analyzed by both MS/MS and HPLC.RESULTS: Screening cutoffs developed distinguished the infants with the disease states of SCD, infants who were carriers of SCD, and infants with normal Hb. In the parallel study no false-negative results were identified, and all clinically relevant cases were correctly identified using the MS/MS protocol. Unblinding the data revealed a total of 328 carrier infants that were successfully excluded by the protocol.CONCLUSIONS: The screening protocol developed correctly identified infants with the disease states of SCD. Furthermore, large numbers of sickle cell carrier infants were successfully not identified, thereby avoiding unnecessary follow-up testing and referral for genetic counseling.
PMID: 24158758 [PubMed - as supplied by publisher]
Related citations
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5. Curr Opin Endocrinol Diabetes Obes. 2013 Oct 21. [Epub ahead of print]
An update on the recent literature on sickle cell bone disease.
Osunkwo I.
Children's Healthcare of Atlanta and The Department of Pediatrics Emory University, Atlanta, Georgia, USA.
Abstract
PURPOSE OF REVIEW:
To summarize the findings of the recent publications on sickle cell bone disease (SBD).
RECENT FINDINGS:
Individuals with sickle cell disease (SCD) are living longer and develop progressive organ damage including SBD with age. Recent studies suggest alternative radiological diagnostics such as ultrasound and scintigraphy can detect and differentiate between different forms of SBD. MRI with or without diffusion-weighted sequences remains the gold standard. Case reports of cranio-orofacial SBD highlight the rarity of this presentation. Vitamin D deficiency is highly prevalent at all ages, but may not be an independent risk factor for avascular necrosis (AVN). Gene polymorphisms of the Annexin A gene may predict AVN in SCD. A recent study demonstrated reduced days with pain and improved physical activity quality of life following high-dose vitamin D therapy. The high rates of osteopenia and osteoporosis in SCD support the need for research addressing this rising public health problem. Lastly, results of total hip arthroplasty for AVN in SCD has improved significantly over time with the use of cementless prosthetic material and improved supportive care.
SUMMARY:
SBD remains poorly studied. Prospective randomized studies targeting predictors, diagnostics, prevention, and treatment options for SBD are sorely needed. PMID: 24150191 [PubMed - as supplied by publisher]
Related citations
6. Medsurg Nurs. 2013 Jul-Aug;22(4):255-7.
Optimizing adolescent transition to adult care for sickle cell disease.
Cerns S, McCracken C, Rich C.
Inpatient Medicine/Hematology-Oncology/Palliative Care Unit, Froedtert Hospital, Milwaukee, WI, USA.
Abstract
Transitioning health care from a pediatric to an adult environment in a patient with sickle cell disease presents challenges. A program developed to assist with transition is described.
PMID: 24147324 [PubMed - in process]
Related citations
7. J Med Screen. 2013 Oct 21. [Epub ahead of print]
Universal newborn screening for haemoglobinopathies in Guadeloupe (French West Indies): A 27-year experience.
September is Sickle Cell Month
Drug reduces hospitalizations and cost of treating young children with sickle cell anemia
The St. Jude Children’s Research Hospital-led national BABY HUG trial linked hydroxyurea to a 21 percent reduction in annual medical costs for young children with sickle cell anemia; savings expected to grow. A drug proven effective for treatment of adults and children with sickle cell anemia reduced hospitalizations and cut annual estimated medical costs by 21 percent for affected infants and toddlers, according to an analysis led by St. Jude Children’s Research Hospital. The report appears today in the advance online edition of the journal Pediatrics.
The study is the largest ever focusing on the economic impact of the drug hydroxyurea in children with the inherited blood disorder. The result supports expanded use of the drug to extend the length and quality of life for sickle cell anemia patients of all ages, said Winfred Wang, M.D., a member of the St. Jude Department of Hematology and principal investigator of the multicenter federally funded trial known as BABY HUG.
“We estimate that hydroxyurea cut overall annual medical expenses about $3,000 for each patient by helping patients avoid disease complications that require inpatient hospital care,” said Wang, who is first and corresponding author of the Pediatrics study. “We expect those savings will grow along with patients, whose symptoms often increase in severity and frequency as they age.”
About 100,000 individuals in the U.S. and millions worldwide have sickle cell disease, which leaves them at risk for premature death and disability. The disease is the most common genetic disorder affecting African-American individuals, but those from other ethnic and racial backgrounds also inherit mutations in the hemoglobin gene. The mutations result in blood cells that are prone to assuming the sickled shape that gives the disease its name and that leave patients at increased risk for episodes of acute pain, stroke, organ damage and other complications.
The analysis comes two years after Wang and his colleagues reported that hydroxyurea reduced episodes of acute pain and pneumonia-like illness, eased other symptoms, reduced the need for blood transfusions and cut hospitalizations for infants and toddlers with sickle cell anemia. Sickle cell anemia is the most common and severe form of sickle cell disease.
Earlier studies had demonstrated that adults and adolescents with the disease benefited from hydroxyurea. BABY HUG showed the drug, which is inexpensive and easy to administer, was safe and effective for young children. The study involved 193 children who were 9 to 18 months old when they enrolled at one of the 13 participating medical centers. The children were randomly assigned to receive either a daily dose of hydroxyurea for two years or an inactive look-alike. Continued concern about U.S. health care spending prompted BABY HUG researchers to retrospectively assess hydroxyurea’s impact on treatment costs. Investigators used a national database of Medicaid expenditures to estimate the 2009 cost of caring for BABY HUG participants. Medicaid is the state-federal health insurance program that covers lower income and disabled children and adults. The six-year BABY HUG study ended in 2009.
The results showed that hydroxyurea was associated with higher outpatient costs, but lowered overall expenditures. Children who received the drug were hospitalized 232 times during the study, compared to 324 hospitalizations for those in the placebo group. The estimated annual treatment cost $11,072 for children who received hydroxyurea compared to $13,962 for children who received the placebo.
Wang said actual savings associated with hydroxyurea treatment are likely greater, since medical costs are roughly 25 percent less for children enrolled in Medicaid than for those with private health insurance. The analysis was unable to capture all treatment-related costs. “The analysis also could not capture the anxiety patients and family experience when children must be hospitalized,” Wang said.
Hydroxyurea was developed in the 1960s as a possible anti-cancer agent. It won approval for treatment of adults and later adolescents with sickle cell anemia in 1998 following evidence that the drug reduced episodes of severe pain and improved patient quality of life.
The drug works by increasing production of fetal hemoglobin, a form of the oxygen-carrying protein that is unaffected by the mutations that cause sickle cell disease. Fetal hemoglobin normally drops dramatically after birth. Hydroxyurea, however, increases production of red blood cells that contain that form of hemoglobin.
The drug remains an underutilized treatment for sickle cell anemia. Wang estimated the drug is prescribed to about 30 percent of pediatric patients nationwide and an even smaller percentage of adults. Work is underway at St. Jude and other medical centers to identify and address barriers to more widespread use of the drug, including lingering concerns about possible long-term toxicity.
Sickle Cell News for September 2013
SCDAA Receives $250,000 Research Gift
SCDAA is proud to announce that we have received a $250,000 donation to further research programming. The award will be used to expand SCDAA’s overall research agenda. SCDAA Chief Medical Officer Dr. Kim Smith-Whitley says this gift is an important opportunity. “We are so grateful for this gift. It is a great opportunity for SCDAA to expand our research program efforts,” she says.
University of Pittsburgh and UPMC are developing better treatments for children and adults with sickle cell disease (SCD).
Their ultimate goal is to find a cure. Pittsburgh Steelers captain Ryan Clark, who has personally been affected by SCD, supports their work. As a sickle cell trait carrier, he experienced a life-threatening crisis—brought on by altitude—while playing a game in Denver. Sadly, he also lost his sister-in-law to complications from SCD. She was only 27.
“After my ordeal in Denver, and following Kim’s death, my wife and I prayed daily for guidance about what to do next. I didn’t just want to lend my name to a cause; I wanted to get involved in a big way. That’s when we approached the University of Pittsburgh and UPMC about our idea of creating Ryan Clark’s Cure League,” Clark says.
UPMC, in a push to achieve advances in sickle cell research and treatment, has recruited three national leaders in the disease, the medical center announced this week.
"It is pretty unprecedented to have this many people focused on sickle cell come together in one place, so it is very exciting," said Mark Gladwin, director of the Pittsburgh Heart, Lung, Blood and Vascular Medicine Institute.
Solomon Ofori-Acquah from Emory University in Atlanta and Gregory Kato from the National Heart, Lung and Blood Institute at the National Institutes of Health are already here. Laura DeCastro will come to Pittsburgh from Duke University in January.
The will help UPMC in "creating a critical mass" to make progress against the disease, Dr. Gladwin said. The new hires, together with existing researchers and doctors at UPMC, represent an "impressive scope of experience," said Dr. Kato, that extends "from bench to bedside."
New Book Resource for Adolescent Sickle Cell Patients
Hope and Destiny Jr. ISBN 978-0-9764449-1-2 Hilton Publishing,
Adolescence transition to adulthood in sickle cell is an important and a high-risk period. This book aims to address some of the needs of the adolescent preparing for transition. It is intended to:
Emphasize patient-centered topics, like delayed puberty.
Counsel like an experienced sickle cell doctor in the office, but with more pictures.
Connect to peers with real stories from teens and children with sickle cell
Provide inspiration / role models for career & education
A recent review of sickle cell adolescent transition (Jordan L, Swerdlow P, Coates TD.Systematic review of transition from adolescent to adult care in patients with sickle cell disease. Pediatr Hematol Oncol. 2013 Apr;35(3):165-9.) includes recommendations for age-appropriate educational materials, education that anticipates common fears and concerns of teens.
Hilton Publishing's #1 bestselling book to the general market is now available in a book just for children and adolescents! Hope and Destinyremains the only comprehensive, culturally sensitive book on sickle cell disease on the market and now children have a book, with many pictures and a game, which they can read themselves to learn about their special disease.
Hope and Destiny Jr. is the best resource available for young patients and families impacted by sickle cell disease. It is the only comprehensive book on the market especially for children that tackles all aspects of the disease. The book discusses:
How did I get sickle cell, and is it contagious?
What can and can't I do because I have sickle cell?
The most current treatment options
Symptoms of sickle cell and how to reduce them
The unique changes and challenges faced by children with sickle cell
Pain assessment and management that children can do better on their own.
Strategies to lower the likelihood of pain episodes
How to communicate frustrations and emotions associated with sickle cell
Authors: Lewis L. Hsu, MD, PhD is the director of the pediatric sickle cell program and a professor of pediatric hematology-oncology at Children's Hospital University of Illinois.
Silvia R. Brandalise, MD is the pediatric hematology-oncology service coordinator at the Medical Science of Campinas (UNICAMP), São Paulo, Brazil, and is the general secretary of the Latin American Society of Pediatric Oncology (SLAOP).
Carmen C.M. Rodrigues, RN, is a graduate of the State University of Campinas (UNICAMP) with a master's degree focusing on sickle cell disease and is a member of the technical advisory group on sickle cell disease at the Ministry of Health, São Paulo, Brazil. Seehttp://www.hiltonpub.com/bookstore/products/56026-hope-and-destiny-jr.aspx Bulk pricing available. For more information, or to place an order, contact Daniel at dderousseau@hiltonpub.com or 219-922-4868.
New Videos
Aug 22, 2013: Mental Health and Learning Needs in children with Sickle Cell Disease Dr. Patricia Kavanagh, Boston University School of Medicine/Boston Medical Center
mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDC072513.wmv
SAVE THE DATES
Fellow colleagues, you are invited to participate in the“Public Health Webinar Series on Hemoglobinopathies” Hosted by: The Division of Blood Disorders, CDC 4th Thursday of every month from 2:00PM – 3:00PM EST
9/26: NHLBI Sickle Cell Disease Guidelines
Dr. Joylene John-Sowah, National Heart Lung and Blood Institute, NIH
10/24: Current Data on Efficacy and Effectiveness of Hydroxyurea in Children with Sickle Cell Disease
Dr. Winfred Wang, St. Jude Children’s Research Hospital
November/December: --- No Webinars---
If you have ideas on topics for future webinars, or have any questions or comments about this series please submit them to Shae Pope spope@cdc.gov . The purpose of this webinar series is to offer a hemoglobinop
athies learning collaborative platform for providers, consumers, educators, and scientists. CDC Web based Sickle Cell Resources CDC’s YouTube Link: http://www.youtube.com/watch?v=gnrvYsZWR1c&list=UUiMg06DjcUk5FRiM3g5sqoQ&index=2&feature=plpp_video
CDC Video Archive (http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-health
CDC Sickle Cell Disease Webpage: http://wwwdev.cdc.gov/NCBDDD/sicklecell/video.html
Articles in the Medical Literature for September
1. Pediatr Blood Cancer. 2013 Sep 4. doi: 10.1002/pbc.24711. [Epub ahead of print]
Newborn screening program for hemoglobinopathies in Rio de Janeiro, Brazil.
de Castro Lobo CL, Ballas SK, Domingos AC, Moura PG, do Nascimento EM, Cardoso GP, de Carvalho SM.
Clinical Hematology Division, Instituto de Hematologia Arthur de Siqueira Cavalcanti-HEMORIO, Rio de Janeiro, RJ, Brazil.
Abstract
BACKGROUND:
Newborn screening for hemoglobinopathy in Brazil has been decentralized until 2001 when the Health Ministry of Brazil established the National Newborn Hemoglobinopathy Screening Program. The State of Rio de Janeiro started a program in collaboration with the State Health Department and the Institute of Hematology in Rio (HEMORIO). The goal of this study was to evaluate the effectiveness of the first 10 years of the Newborn Hemoglobinopathy Screening Program in identifying and managing infants with Sickle cell disease (SCD) in the State of Rio de Janeiro.
PROCEDURE:
Blood samples from 1,217,833 neonates were analyzed by High Performance Liquid Chromatography. Infants with SCD were enrolled in comprehensive treatment programs.
RESULTS:
Data showed that 4.87% of the newborns were heterozygous for a hemoglobin variant, 0.08% were homozygous or doubly heterozygous for abnormal hemoglobins and 95.02% had normal hemoglobin. All the 912 newborns with SCD were referred for treatment at HEMORIO, 34 (3.7%) of these died due to acute chest syndrome, sepsis or splenic sequestration. Four more children died of unknown causes. The implementation of the Rio de Janeiro Newborn Screening Program gradually increased the area of the State covered by the program.
CONCLUSION:
Data collected during the 10 years of the program showed reduction in mortality of patients with SCD in comparison to available historical statistical data before the implementation of the national screening program. This 10-year study showed that early diagnosis and treatment of newborns was associated with improved survival and quality of life of Brazilian children with SCD. Pediatr Blood Cancer © 2013 Wiley Periodicals, Inc.
© 2013 Wiley Periodicals, Inc.
PMID: 24038856 [PubMed - as supplied by publisher]
Related citations
2. Pediatr Blood Cancer. 2013 Sep 2. doi: 10.1002/pbc.24744. [Epub ahead of print]
Comparison of automated red cell exchange transfusion and simple transfusion for the treatment of children with sickle cell disease acute chest syndrome. Saylors RL, Watkins B, Saccente S, Tang X.
Division of Pediatric Hematology and Oncology, Arkansas Children's Hospital and University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Abstract
BACKGROUND:
Both simple transfusion (ST) of packed red blood cells and automated red cell exchange (RCE) are used in the treatment of acute chest syndrome (ACS). We report our experience using each of these modalities for the treatment of ACS.
METHODS:
Retrospective chart review of patients with ACS treated with ST only (51 episodes, ST group) or RCE performed either at diagnosis (U-RCE group, 15 episodes) or after ST (ST + RCE group, 15 episodes).
RESULTS:
The mean clinical respiratory score (CRS) at diagnosis was significantly higher in the U-RCE group than in the ST group, but there were no significant differences among the other groups. The CRS and WBC each decreased significantly after simple transfusion in the ST group and after RCE in the U-RCE group, but both the CRS and WBC increased significantly, and the mean platelet count fell significantly, after simple transfusion in the ST + RCE group. Only patients in the ST + RCE group required mechanical ventilation. There were no significant differences in length of stay (LOS) or total hospital charges among any of the groups, probably due to the small sample size.
CONCLUSIONS:
We conclude that the CRS identifies the patients who are most severely affected with ACS, and that upfront RCE is a safe and effective treatment for these patients. Additional work is needed to develop a method to predict which of the apparently less severely affected patients will fail to improve after simple transfusion and should receive upfront RCE. Pediatr Blood Cancer © 2013 Wiley Periodicals, Inc.
© 2013 Wiley Periodicals, Inc.
PMID: 24000077 [PubMed - as supplied by publisher]
Related citations
3. Pediatrics. 2013 Sep 2. [Epub ahead of print]
Hydroxyurea Is Associated With Lower Costs of Care of Young Children With Sickle Cell Anemia.
Wang WC, Oyeku SO, Luo Z, Boulet SL, Miller ST, Casella JF, Fish B, Thompson BW, Grosse SD; for the BABY HUG Investigators.
Department of Hematology, St Jude Children's Research Hospital, Memphis, Tennessee;
Abstract
BACKGROUND AND OBJECTIVE:In the BABY HUG trial, young children with sickle cell anemia randomized to receive hydroxyurea had fewer episodes of pain, hospitalization, and transfusions. With anticipated broader use of hydroxyurea in this population, we sought to estimate medical costs of care in treated versus untreated children.METHODS:The BABY HUG database was used to compare inpatient events in subjects receiving hydroxyurea with those receiving placebo. Unit costs were estimated from the 2009 MarketScan Multi-state Medicaid Database for children with sickle cell disease, aged 1 to 3 years. Inpatient costs were based on length of hospital stay, modified by the occurrence of acute chest syndrome, splenic sequestration, or transfusion. Outpatient expenses were based on the schedule required for BABY HUG and a "standard" schedule for 1- to 3-year-olds with sickle cell anemia.RESULTS:There were 232 hospitalizations in the subjects receiving hydroxyurea and 324 in those on placebo; length of hospital stay was similar in the 2 groups. Estimated outpatient expenses were greater in those receiving hydroxyurea, but these were overshadowed by inpatient costs. The total estimated annual cost for those on hydroxyurea ($11 072) was 21% less than the cost of those on placebo ($13 962; P = .038).CONCLUSIONS:Savings on inpatient care resulted in a significantly lower overall estimated medical care cost for young children with sickle cell anemia who were receiving hydroxyurea compared with those receiving placebo. Because cost savings are likely to increase with age, these data provide additional support for broad use of hydroxyurea treatment in this population.
PMID: 23999955 [PubMed - as supplied by publisher]
Related citations
4. Am J Hematol. 2013 Aug 31. doi: 10.1002/ajh.23586. [Epub ahead of print]
Frequent red cell transfusions reduced vascular endothelial activation and thrombogenicity in children with sickle cell anemia and high stroke risk.
Hyacinth HI, Adams RJ, Voeks JH, Hibbert JM, Gee BE.
Stroke Center, Department of Neuroscience, Medical University of South Carolina, Charleston, SC; Department of Microbiology, Biochemistry and Immunology, Morehouse School of Medicine, Atlanta, Georgia.
Abstract
Stroke is one of the most disabling complications of sickle cell anemia (SCA). The molecular mechanisms leading to stroke in SCA or by which packed red blood cell (PRBC) transfusion prevents strokes are not understood. We investigated the effects of PRBC transfusion on serum biomarkers in children with SCA who were at high-risk for stroke. Serum samples from 80 subjects were analyzed, including baseline, study exit time point and 1 year after study exit. Forty of the 80 samples were from subjects randomized to standard care and 40 from transfusion arm. Samples were assayed for levels of BDNF, sVCAM-1, sICAM-1, MPO, Cathepsin-D, PDGF-AA, PDGF-AB/BB, RANTES (CCL5), tPAI-1 and NCAM-1 using antibody immobilized bead assay. Significantly lower mean serum levels of sVCAM-1 (2.2X106 ±0.8X106 pg/ml vs. 3.1X106±0.9X106 pg/ml, p<0.0001), Cathepsin-D (0.5X106 ±0.1X106 pg/ml vs. 0.7X106 ±0.2X106 pg/ml, p<0.0001), PDGF-AA (10556±4033pg/ml vs. 14173±4631pg/ml, p=0.0008), RANTES (0.1X106 ±0.07X106 pg/ml vs. 0.2X106 ±0.06X106 pg/ml, p<0.006), and NCAM-1 (0.7X106 ±0.2X106 pg/ml vs. 0.8X106 ±0.1X106pg/ml, p<0.0006) were observed among participants who received PRBC transfusion, compared to those who received standard care. Twenty or more PRBC transfusion over 4 years was associated with lower serum levels of sVCAM-1 (p<0.001), PDGF-AA (p=0.025) and RANTES (p=0.048). Low baseline level of BDNF (p=0.025), sVCAM-1 (p=0.025), PDGF-AA (p=0.01), t-PAI-1 (p=0.025) and sICAM-1 (p=0.022) was associated with higher probability of stroke free survival. Beyond improving hemoglobin levels, our results suggest that the protective effects of PRBC transfusion on reducing stroke in SCD may result from reduced thrombogenesis and vascular remodeling.
Copyright © 2013 Wiley Periodicals, Inc., A Wiley Company.
PMID: 23996496 [PubMed - as supplied by publisher]
Related citations
5. Arch Dis Child. 2013 Aug 30. doi: 10.1136/archdischild-2012-302387. [Epub ahead of print]
Evidence review of hydroxyurea for the prevention of sickle cell complications in low-income countries.
Mulaku M, Opiyo N, Karumbi J, Kitonyi G, Thoithi G, English M.
School of Pharmacy, University of Nairobi, , Nairobi, Kenya.
Abstract
Hydroxyurea is widely used in high-income countries for the management of sickle cell disease (SCD) in children. In Kenyan clinical guidelines, hydroxyurea is only recommended for adults with SCD. Yet many deaths from SCD occur in early childhood, deaths that might be prevented by an effective, disease modifying intervention. The aim of this review was to summarise the available evidence on the efficacy, effectiveness and safety of hydroxyurea in the management of SCD in children below 5 years of age to support guideline development in Kenya. We undertook a systematic review and used the Grading of Recommendations Assessment, Development and Evaluation system to appraise the quality of identified evidence. Overall, available evidence from 1 systematic review (n=26 studies), 2 randomised controlled trials (n=354 children), 14 observational studies and 2 National Institute of Health reports suggest that hydroxyurea may be associated with improved fetal haemoglobin levels, reduced rates of hospitalisation, reduced episodes of acute chest syndrome and decreased frequency of pain events in children with SCD. However, it is associated with adverse events (eg, neutropenia) when high to maximum tolerated doses are used. Evidence is lacking on whether hydroxyurea improves survival if given to young children. Majority of the included studies were of low quality and mainly from high-income countries. Overall, available limited evidence suggests that hydroxyurea may improve morbidity and haematological outcomes in SCD in children aged below 5 years and appears safe in settings able to provide consistent haematological monitoring.
Free Article
PMID: 23995076 [PubMed - as supplied by publisher]
Related citations
August 2013
> James Eckman MD, Director of the 24 hour Georgia Comprehensive Sickle Cell Center to Retire – Symposium in his honor on November 16, 2013at Emory University in Atlanta Georgia
>>
>> Prior to 1984, patients presenting with sickle cell pain crisis were seen in Atlanta area emergency rooms, placed low on triage lists, evaluation procedures were erratic and continuity of care usually absent.
>>
> Dr. James Eckman arrived in Atlanta from the University of Minnesota Medical School to establish a sickle cell program at Grady Memorial Hospital and Emory University School of Medicine. With very little resources, Dr. Eckman obtained grant funding to support the salaries of a genetics nurse, a social worker and a clinical nurse specialist in psychiatry as the beginning of a multidisciplinary team. Dr. Eckman, with an intense lobbying effort by the Sickle Cell Patient/Parent Group, and hospital administration, convinced members of the Georgia General Assembly of the need for a specialized clinic in the state of Georgia. In 1984 the Georgia General Assembly provided the original state grant of $550,000 to Grady Memorial Hospital to fund the world’s first 24-hour comprehensive acute care, sickle cell center.
>
> Having established the clinic on this foundation, during the past 27 years, under the leadership of Dr. Eckman, the center has cared for more than 4,000 patients, expanded its scope of services, and become a medical home model in the care of sickle cell patients. This has occurred through the development of the Problem Oriented Clinical Guidelines for Sickle Syndromes, authored by Dr. Eckman, first published with a Maternal and Child Health grant and distributed for free world-wide in 1991. These guidelines are continually updated and are available on the World Wide Web for all providers to access at the Sickle Cell Information Center web site at http://www.SCInfo.org.
>
> The clinical success of the center, led by Dr. Eckman, with a dedicated staff of hematologists, physician assistants, nurse practitioners, nurses, clinic assistants, social workers and clinical nurse specialists in psychiatry, allowed the staff to apply for Federal research funding. In 1993, the National Institutes of Health awarded Dr. Eckman and Emory University $7 million over five years in research funding for projects to discover new treatments and prevention of complications. Emory is now the leading center out of twenty-five national centers, providing bone marrow transplants to cure sickle cell disease in the United States. Emory provided the first unrelated cord blood stem cell transplant. There are new treatments, such as fish oil or N3 fatty acids that prevent pain events with little or no side effects, new psychosocial interventions, new educational materials on computer-based CD-ROM and Internet technology, new understanding of the pathology of pain events and kidney damage that will lead to new treatments.
>
> >
> Dr. Eckman has championed newborn screening for sickle cell in many states nationally and internationally. Through his public health efforts, the infant mortality related to sickle cell disease decreased in Georgia. This has saved the lives of many sickle cell children who would have died from pneumococcal sepsis if timely preventive care with oral penicillin prophylaxis was not started. It was through his efforts that Georgia instituted universal mandatory sickle cell screening for newborns in October of 1998.

> > As a Professor of Medicine and Adjunct Professor of Pediatrics, Dr. Eckman teaches medical students, residents, and fellows the Art and science of patient care. He spends countless hours preparing stimulating lectures with practical handouts and visually pleasing slides. He teaches at the bedside as a role model for housestaff, showing them how to deliver compassionate and expert care. With all of his duties and responsibilities, he is available to comfort a patient with a reassuring word or answer a family’s question. He has published extensively on sickle cell disease management, new treatments, newborn screening, pain assessment and pain treatment. He is co-author of the bestselling lay sickle cell education book Hope and Destiny, The Patient and Parent’s Guide to Sickle Cell Disease and Sickle Cell Trait (Hilton Publishing 2011)

> > Dr. Eckman has been committed to attending to the psychosocial needs of the patients and their families. To this end, he has supported the provision of mental health services to individuals across their life span with sickle cell disease. These services have included psychology services from psychology interns, postdoctoral fellows, and faculty. Psychology trainees and faculty frequently comment on the value Dr. Eckman places on a biopsychosocial approach to care and the ways in which this enhances the quality of life of the patients served at the Center. Since most psychology trainees and faculty have received minimal, if any, training in sickle cell disease, Dr. Eckman has been invested in educating them about the disease. He offers multiple training opportunities to non-medical professionals through didactics, informal teaching, multimedia educational materials (e.g., CD-ROM, videos, Web based and internet information), and the coordination of conferences. In his teaching, he is very respectful of the knowledge base and training of those he is educating, shares his extensive knowledge base openly and effectively, and is always approachable. He clearly loves to teach and views educating others as a way to ultimately enhance the quality of the care offered to the patients. In addition to teaching other professionals, the families at the Center have tremendous admiration and respect for what he has taught them.

> > On behalf of the Department of Hematology and Medical Oncology at Emory University School of Medicine, you are cordially invited to join us in celebrating the long anddistinguished career of James R. Eckman, MD at the Sickle Cell Scientific Symposium and Reception on Saturday, November 16, 2013. This educational program will be held on Emory University’s campus and will feature world renowned authorities in sickle cell disease, all of whom are longtime friends and colleagues of Dr. Eckman. If you would like to attend, please feel free to RSVP now as the program plans are developing. Please contact: Chris Terry-Carter at cterryc@emory.edu or Joél Anthony atjantho3@emory.edu. >


> Healthy People 2020 Blood Disorders and Blood Safety Objectives http://www.healthypeople.gov/2020/topicsobjectives2020/overview.aspx?topicid=4 >

> Sickle Cell disease objectives and recommendations are a part of Healthy Perople 2020
> New Videos
>
> 2013-07-25 - Dr. Coretta Jenerette, International Association of Sickle Cell Nurses and Physician Assistants
>

> Nurses’ Impact on the Stigmatization of Individuals with Sickle Cell: Challenges and Recommendations >

> mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDC072513.wmv >

> SAVE THE DATES >

> Fellow colleagues, you are invited to participate in the“Public Health Webinar Series on Hemoglobinopathies” Hosted by: The Division of Blood Disorders, CDC

> > 4th Thursday of every month from 2:00PM – 3:00PM EST >

> 9/26: NHLBI Sickle Cell Disease Guidelines >

> Dr. Joylene John-Sowah, National Heart Lung and Blood Institute, NIH >

> 10/24: Current Data on Efficacy and Effectiveness of Hydroxyurea in Children with Sickle Cell Disease >

> Dr. Winfred Wang, St. Jude Children’s Research Hospital >

> November/December: --- No Webinars--- >

> If you have ideas on topics for future webinars, or have any questions or comments about this series please submit them to Shae Popespope@cdc.gov . >

> The purpose of this webinar series is to offer a hemoglobinopathies learning collaborative platform for providers, consumers, educators, and scientists. CDC Web based Sickle Cell Resources
CDC’s YouTube Link: http://www.youtube.com/watch?v=gnrvYsZWR1c&list=UUiMg06DjcUk5FRiM3g5sqoQ&index=2&feature=plpp_video
CDC Video Archive (http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-health
CDC Sickle Cell Disease Webpage:http://wwwdev.cdc.gov/NCBDDD/sicklecell/video.html
Articles in the Medical Literature for June
1. PLoS One. 2013 Aug 14;8(8):e72077. doi: 10.1371/journal.pone.0072077. eCollection 2013.
Hydroxyurea use and hospitalization trends in a comprehensive pediatric sickle cell program.
Nottage KA, Hankins JS, Smeltzer M, Mzayek F,Wang WC, Aygun B, Gurney JG.
Department of Hematology, St. Jude Children's Research Hospital, Memphis, Tennessee, United States of America.
Abstract
BACKGROUND:
A decline in hospitalizations and pain episodes among those with sickle cell disease (SCD) who take hydroxyurea (HU) has been shown when compared to pre-HU patterns but paradoxically, when compared to those who have never been treated, HU recipients often have more frequent hospitalizations. This analysis evaluates the impact of increasing usage of HU on trends in hospitalizations and blood transfusions within a large SCD treatment program.
METHODS:
Eligibility was restricted to patients with Hb SS or Hb Sβ(0)-thalassemia who were 2-18 years old between 2006-2010 and received care at St. Jude Children's Research Hospital (N = 508). Hospitalizations and blood transfusions were calculated for each of the years under study for those exposed and never exposed to HU. Differences in number of hospitalizations before and after HU initiation were compared.
RESULTS:
The proportion of patients receiving HU increased by 4% per year on average. In the HU exposed group, a modest decline in mean per-patient hospitalizations and per-patient hospital days occurred, while those never exposed to HU trended toward a slight increase over time. Rates of blood transfusions declined among those on HU but not in patients never exposed to HU. Patients on HU had a median of one fewer hospital admission in the year after initiation of HU, compared to the year prior. Two deaths occurred in the patient population, both of whom were not exposed to HU.
CONCLUSIONS:
Increasing usage of HU was concurrent with decreased hospitalization rates and blood transfusions. Our results support the utility of HU on decreasing hospitalizations and transfusions for patients with SCD outside of the clinical trial setting.
PMCID: PMC3743768 Free PMC Article
PMID: 23967276 [PubMed - in process]
Related citations
2. J Blood Med. 2013 Aug 5;4:101-10. doi: 10.2147/JBM.S35478. eCollection 2013.
Deferasirox: appraisal of safety and efficacy in long-term therapy.
Chaudhary P, Pullarkat V.
Jane Ann Nohl Division of Hematology, University of Southern California Keck School of Medicine, Los Angeles, CA, USA.
Abstract
Deferasirox is a once-daily, oral iron chelator that is widely used in the management of patients with transfusional hemosiderosis. Several Phase II trials along with their respective extension studies as well as a Phase III trial have established the efficacy and safety of this novel agent in transfusion-dependent patients with β-thalassemia, sickle-cell disease and bone marrow-failure syndromes, including myelodysplastic syndrome and aplastic anemia. Data from various clinical trials show that a deferasirox dose of 20 mg/kg/day stabilizes serum ferritin levels and liver iron concentration, while a dose of 30-40 mg/kg/day reduces these parameters and achieves negative iron balance in red cell transfusion-dependent patients with iron overload. Across various pivotal clinical trials, deferasirox was well tolerated, with the most common adverse events being gastrointestinal disturbances, skin rash, nonprogressive increases in serum creatinine, and elevations in liver enzyme levels. Longer-term extension studies have also confirmed the efficacy and safety of deferasirox. However, it is essential that patients on deferasirox therapy are monitored regularly to ensure timely management for any adverse events that may occur with long-term therapy.
PMCID: PMC3743529 Free PMC Article
PMID: 23966805 [PubMed]
Related citations
Icon for Dove Medical PressIcon for PubMed Central
3. Popul Health Manag. 2013 Aug 21. [Epub ahead of print]
Characteristics of Acute Care Utilization of a Delaware Adult Sickle Cell Disease Patient Population.
Anderson N, Bellot J, Senu-Oke O, Ballas SK.
1 Jefferson School of Nursing , Philadelphia, Pennsylvania.
Abstract
Abstract Sickle cell disease (SCD) is an inherited blood disorder that is chronic in nature and manifests itself through many facets of the patient's life. Comprehensive specialty centers have the potential to reduce health care costs and improve the quality of care for patients who have chronic medical conditions such as heart failure and SCD. The purpose of this practice inquiry was to analyze de-identified data for acute care episodes involving SCD in order to create a detailed picture of acute care utilization for adult patients in Delaware with SCD from 2007 to 2009. Gaining a better understanding of acute care utilization for adults with SCD may provide evidence to improve access to high-quality health care services for this vulnerable patient population in the state of Delaware. Population Health Management 20xx;xx:xx-xx.
PMID: 23965046 [PubMed - as supplied by publisher]
Related citations
4. Am J Hematol. 2013 Aug 20. doi: 10.1002/ajh.23575. [Epub ahead of print]
Neuropathy, neuropathic pain and sickle cell disease.
Ballas SK, Darbari DS.
Cardeza Foundation, Department of Medicine, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA.
PMID: 23963922 [PubMed - as supplied by publisher]
Related citations
5. Am J Hematol. 2013 Aug 20. doi: 10.1002/ajh.23571. [Epub ahead of print]
Vasculopathy, inflammation and blood flow in leg ulcers of patients with sickle cell anemia.
Minniti CP, Delaney KM, Gorbach AM, Xu D, Lee CC, Malik N, Koroulakis A, Antalek M, Maivelett J,Peters-Lawrence M, M Novelli E, Lanzkron SM,Axelrod KC, Kato GJ.
Hematology Branch, NHLBI, National Institutes of Health, Bethesda, MD, USA.
Abstract
Chronic leg ulcers are frequent and debilitating complications of sickle cell anemia. Inadequate blood supply has been postulated to be an important factor in their occurrence and delayed healing. Little is known about their microcirculatory and histopathological changes. We evaluated the microcirculation of lower extremity ulcers with laser speckle contrast imaging and infrared thermography, and obtained clinical and laboratory characteristics in 18 adults with sickle cell anemia and chronic leg ulcers. Skin biopsies were obtained in four subjects. Subjects had markers of severe disease, anemia, and high degree of hemolysis, inflammation and thrombophilia. Higher blood flow was present in the ulcer bed, lesser in the immediate periwound area, compared to an unaffected control skin area. Microscopic examination showed evidence of venostasis, inflammation, and vasculopathy. Blood vessels were increased in number, had activated endothelium and evidence of thrombosis/recanalization. High blood flow may be due to chronic inflammation, cutaneous vasodilatation, venostasis, and in situ thrombosis. These changes in skin microcirculation are similar to chronic venous ulcers in the non-SCD population, thus suggesting that leg ulcers may be another end-organ complication with endothelial dysfunction that appears in patients with SCD at a younger age and with higher frequency than in the general population.
Copyright © 2013 Wiley Periodicals, Inc., A Wiley Company.
PMID: 23963836 [PubMed - as supplied by publisher]
Related citations
6. Blood. 2013 Aug 20. [Epub ahead of print]
Bone marrow transplantation for thalassemia from alternative related donors: improved outcomes with a new approach.
Gaziev J, Marziali M, Isgrò A, Sodani P, Paciaroni K, Gallucci C, Andreani M, Testi M, De Angelis G,Alfieri C, Cardarelli L, Ribersani M, Armiento D,Lucarelli G. International Center for Transplantation in Thalassemia and Sickle Cell Anemia, Mediterranean Institute of Hematology, Policlinico Tor Vergata, Rome, Italy. Abstract
Bone marrow transplantation performance can be limited by a lack of ideal donors, and the role of alternative donor hematopoietic cell transplantation in thalassemia is not well established. Here we used a new treatment protocol (Pc 26.1) in 16 thalassemia patients to perform BMT using phenotypically HLA-identical or one-antigen mismatched relatives (related donors-RDs). We compared these results with HLA matched sibling (matched sibling donors-MSDs) BMT in 66 patients. The entire RD group and 88% of MSD group had sustained engraftment. Rejection incidence was 0% in the RD and 12% (95% CI, 6-21%) in MSD groups (P = 0.15), with respective thalassemia-free survival (TFS) probabilities of 94% (95% CI, 63-99%) and 82% (95% CI, 70-89%) (P = 0.24). Transplant-related mortality was 6% (95% CI, 1-26%) in the RD group and 8% (95% CI, 3-16%) in the MSD group (P = 0.83). The intensified new protocol was not associated with increased nonhematological toxicity. The present data show that the Pc 26.1 preparative regimen allows thalassemia patients to safely undergo BMT from related donors who are not HLA-matched siblings, with transplant outcomes similar to patients of MSD grafts.
PMID: 23963044 [PubMed - as supplied by publisher]
Related citations
7. PLoS One. 2013 Aug 7;8(8):e70794. doi: 10.1371/journal.pone.0070794. eCollection 2013.
Increased Reticulocytosis during Infancy Is Associated with Increased Hospitalizations in Sickle Cell Anemia Patients during the First Three Years of Life. Meier ER, Byrnes C, Lee YT, Wright EC,Schechter AN, Luban NL, Miller JL.
Molecular Medicine Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, United States of America ; Center for Cancer and Blood Disorders, Children's National Medical Center, Washington, District of Columbia, United States of America ; Department of Pediatrics, The George Washington University Medical Center, Washington, District of Columbia, United States of America.
Abstract
OBJECTIVE:
Among older children with sickle cell anemia, leukocyte counts, hemoglobin, and reticulocytosis have previously been suggested as disease severity markers. Here we explored whether these blood parameters may be useful to predict early childhood disease severity when tested in early infancy, defined as postnatal ages 60-180 days.
STUDY DESIGN:
Data from fifty-nine subjects who were followed at Children's National Medical Center's Sickle Cell Program for at least three years was retrospectively analyzed. Comparisons were made between white blood cell counts, hemoglobin and reticulocyte levels measured at ages 60-180 days and the clinical course of sickle cell anemia during infancy and childhood.
RESULTS:
A majority of subjects had demonstrable anemia with increased reticulocytosis. Only increased absolute reticulocyte levels during early infancy were associated with a significant increase in hospitalization during the first three years of life. Higher absolute reticulocyte counts were also associated with a markedly shorter time to first hospitalizations and a four-fold higher cumulative frequency of clinical manifestations over the first three years of life. No significant increase in white blood cell counts was identified among the infant subjects.
CONCLUSIONS:
These data suggest that during early infancy, increased reticulocytosis among asymptomatic SCA subjects is associated with increased severity of disease in childhood.
PMCID: PMC3737358 Free PMC Article
PMID: 23951011 [PubMed - in process]
Related citations
8. Am J Hematol. 2013 Aug 14. doi: 10.1002/ajh.23569. [Epub ahead of print]
Efficacy and safety of deferasirox compared with deferoxamine in sickle cell disease: 2-year results including pharmacokinetics and concomitant hydroxyurea. Vichinsky E,
Sickle Cell News for July 2013
UCLA Stem Cell Gene Therapy For Sickle Cell Disease Advances Toward Clinical Trials
https://www.stemcell.ucla.edu./news/gene-therapy-sickle-cell-disease-advances-toward-clinical-trials - See abstract #5 in this newsletter
Researchers at UCLA’s Eli & Edythe Broad Center of Regenerative Medicine & Stem Cell Research have successfully established the foundation for using hematopoietic (blood-producing) stem cells (HSC) from the bone marrow of patients with sickle cell disease (SCD) to treat the disease. The study was led by Dr. Donald Kohn, professor of pediatrics and microbiology, immunology and molecular genetics in the life sciences.
Kohn introduced an anti-sickling gene into the HSC to capitalize on the self-renewing potential of stem cells and create a continual source of healthy red blood cells that do not sickle. The breakthrough gene therapy technique for sickle cell disease is scheduled to begin clinical trials by early 2014. The study was published online ahead of press today in Journal of Clinical Investigation.
Gene Therapy
Kohn’s gene therapy approach using HSC from patient’s own blood is a revolutionary alternative to current SCD treatments as it creates a self-renewing normal blood cell by inserting a gene that has anti-sickling properties into HSC. This approach also does not rely on the identification of a matched donor, thus avoiding the risk of rejection of donor cells. The anti-sickling HSC will be transplanted back into the patient’s bone marrow and multiplies the corrected cells that make red blood cells without sickling.
“The results demonstrate that our technique of lentiviral transduction is capable of efficient transfer and consistent expression of an effective anti-sickling beta-globin gene in human SCD bone marrow progenitor cells, which improved the physiologic parameters of the resulting red blood cells.” Kohn said. Kohn and colleagues found that in the laboratory the HSC produced new non-sickled blood cells at a rate sufficient for significant clinical improvement for patients. The new blood cells survive longer than sickled cells, which could also improve treatment outcomes. The success of this technique will allow Kohn to begin clinical trials in patients with SCD by early next year.
Current treatments include transplanting patients with donor HSC, which is a potential cure for SCD, but due to the serious risks of rejection, only a small number of patients have undergone this procedure and it is usually restricted to children with severe symptoms. This study was supported in part by a Disease Team I Award from the California Institute for Regenerative Medicine (CIRM), the state’s stem cell research agency created by voter initiative in 2004. Other support came from the UCLA Broad Stem Cell Research Center and Jonsson Comprehensive Cancer Center and the Ruth L. Kirschstein National Research Service Award.
The stem cell center was launched in 2005 with a UCLA commitment of $20 million over five years. A $20 million gift from the Eli and Edythe Broad Foundation in 2007 resulted in the renaming of the center. With more than 200 members, the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research is committed to a multi-disciplinary, integrated collaboration of scientific, academic and medical disciplines for the purpose of understanding adult and human embryonic stem cells. The center supports innovation, excellence and the highest ethical standards focused on stem cell research with the intent of facilitating basic scientific inquiry directed towards future clinical applications to treat disease. The center is a collaboration of the David Geffen School of Medicine, UCLA’s Jonsson Cancer Center, the Henry Samueli School of Engineering and Applied Science and the UCLA College of Letters and Science. To learn more about the center, visit our web site at http://www.stemcell.ucla.edu.
Please join the discussion about Bone Marrow Transplantation in Sickle Cell Disease at the NHLBI Annual Sickle Cell Disease Clinical Research Meetings
Bone Marrow Transplantation in Sickle Cell Disease: A Question of Outcomes.
Monday, August 19, 2013; 1:00 - 5:00 PM, Natcher Conference Center, NIH, Bethesda, MD
New advances to improve outcomes in SCD and to lower the toxicities of BMT in SCD mandate continued and ongoing comparison of the outcomes of SCD patients undergoing BMT with those not transplanted. This session will explore issues of expanding eligibility criteria for BMT and of developing and standardizing outcomes measures to optimize comparisons of transplanted and non-transplanted patients with SCD. The meeting is open to all and the audience will be encouraged to participate in the discussion.
Please register for the meetings (and indicated your choice to attend the session) at: https://www.cvent.com/events/annual-sickle-cell-disease-clinical-research-meetings/registration-b0cafc512d25422096ef3a6a28095937.aspx
Registration is free.
Johns Hopkins professor: Sickle cell patient, researcher, and advocatehttp://hub.jhu.edu/2013/07/08/carlton-haywood-sickle-cell Johns Hopkins researcher .understands sickle cell disease in a way few others can—the overwhelming pain that "blossoms into a thunderstorm," the toll it takes on a patient's life, and the paucity of understanding of—or funding for—the condition in the health care community.
Haywood, 37, a faculty member at the Johns Hopkins schools of medicine and public health and at the university's Berman Institute of Bioethics, has lived with the rare disease since birth. He was featured in Saturday's edition of The Baltimore Sun:
In Memory of Keone Penn, age 27: Medical trailblazer wanted to be a chef http://www.ajc.com/news/news/local-obituaries/keone-penn-27-medical-trailblazer-wanted-to-be-a-c/nYXxF/
Keone Penn’s middle initial — D — actually stood for Denard, but it could have easily been short for determination. When Penn was 12 years old, he was thrust into the medical spotlight as the first person in the world to undergo a groundbreaking stem cell transplant that ultimately cured him of sickle cell disease. It was a painful process but he was determined to beat the disease and the health complications that would follow, his mother, Leslie Brodnex said. Not long before his 27th birthday, an age his doctors never imagined he’d reach, Penn did something else they said he’d never do: He enrolled in culinary arts school.
Listening to Blood Cells http://www.photonics.com/Article.aspx?AID=54334
Red blood cells struck with laser light generate high-frequency sound waves that could help researchers to differentiate normal blood cells from abnormal ones for the diagnosis of blood-related diseases like sickle cell
Dangerous Braids That Tangle in Brains and Veins
By Frank Ferrone | May 30, 2013 at http://blogs.scientificamerican.com/guest-blog/2013/05/30/dangerous-braids-that-tangle-in-brains-and-veins/
New Free Publications from the CDC
The CDC has recently updated their Sickle Cell Disease National Resource Directory. The directory is a listing of national agencies, specialty care centers, and community-based organizations that provide services and resources for people affected by sickle cell disease (SCD). The interactive map of the directory is available at http://www.cdc.gov/ncbddd/sicklecell/map/map-nationalresourcedirectory.html. The directory is available as a PDF version at http://www.cdc.gov/ncbddd/sicklecell/freematerials.html
In 2010, in partnership with the National Institutes of Health’s National Heart, Lung, and Blood Institute, the Registry and Surveillance System for Hemoglobinopathies (RuSH) project was launched to collect initial state-specific, information on people with SCD and thalassemia. Factsheets featuring new data on sickle cell disease in the RuSH project states are now available on our website. http://www.cdc.gov/ncbddd/sicklecell/freematerials.html
The CDC factsheet “What You Should Know About Sickle Cell Trait” is now available in Spanish. http://www.cdc.gov/ncbddd/spanish/sicklecell/freematerials.html. The English version has also been updated: http://www.cdc.gov/ncbddd/sicklecell/freematerials.html
New Videos
CDC webinar: from April 2013 - 4/25: Building Behavioral and Social Science Databases for the Hemoglobinopathies: Lessons from the Study of Thalassemia Dr. Robert Yamashita, California State University San Marcos
mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDC042513.wmv
CDC webinar from June 2013 Beta-globin Haplotype Analysis in Children with Sickle Cell Anemia -Dr. Christopher Bean, National Center on Birth Defects and Developmental Disabilities, CDC mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDC062713.wmv
SAVE THE DATES
Fellow colleagues, you are invited to participate in the“Public Health Webinar Series on Hemoglobinopathies” Hosted by: The Division of Blood Disorders, CDC 4th Thursday of every month from 2:00PM – 3:00PM EST
8/22: Mental Health and Learning Needs in children with Sickle Cell Disease
Dr. Patricia Kavanagh, Boston University School of Medicine/Boston Medical Center
9/26: NHLBI Sickle Cell Disease Guidelines
Dr. Joylene John-Sowah, National Heart Lung and Blood Institute, NIH
10/24: Current Data on Efficacy and Effectiveness of Hydroxyurea in Children with Sickle Cell Disease
Dr. Winfred Wang, St. Jude Children’s Research Hospital
November/December: --- No Webinars---
If you have ideas on topics for future webinars, or have any questions or comments about this series please submit them to Shae Pope spope@cdc.gov . The purpose of this webinar series is to offer a hemoglobinopathies learning collaborative platform for providers, consumers, educators, and scientists. CDC Web based Sickle Cell Resources
CDC’s YouTube Link: http://www.youtube.com/watch?v=gnrvYsZWR1c&list=UUiMg06DjcUk5FRiM3g5sqoQ&index=2&feature=plpp_video CDC Video Archive (http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-health
CDC Sickle Cell Disease Webpage: http://wwwdev.cdc.gov/NCBDDD/sicklecell/video.html
Articles in the Medical Literature for June
1. PLoS Med. 2013 Jul;10(7):e1001484. doi: 10.1371/journal.pmed.1001484. Epub 2013 Jul 16.
Global Burden of Sickle Cell Anaemia in Children under Five, 2010-2050: Modelling Based on Demographics, Excess Mortality, and Interventions. Piel FB, Hay SI, Gupta S, Weatherall DJ, Williams TN.
Evolutionary Ecology of Infectious Disease, Department of Zoology, University of Oxford, Oxford, United Kingdom ; Spatial Ecology and Epidemiology Group, Department of Zoology, University of Oxford, Oxford, United Kingdom ; Global Network for Sickle Cell Disease, Toronto, Ontario, Canada.
Abstract
BACKGROUND:
The global burden of sickle cell anaemia (SCA) is set to rise as a consequence of improved survival in high-prevalence low- and middle-income countries and population migration to higher-income countries. The host of quantitative evidence documenting these changes has not been assembled at the global level. The purpose of this study is to estimate trends in the future number of newborns with SCA and the number of lives that could be saved in under-five children with SCA by the implementation of different levels of health interventions.
METHODS AND FINDINGS:
First, we calculated projected numbers of newborns with SCA for each 5-y interval between 2010 and 2050 by combining estimates of national SCA frequencies with projected demographic data. We then accounted for under-five mortality (U5m) projections and tested different levels of excess mortality for children with SCA, reflecting the benefits of implementing specific health interventions for under-five patients in 2015, to assess the number of lives that could be saved with appropriate health care services. The estimated number of newborns with SCA globally will increase from 305,800 (confidence interval [CI]: 238,400-398,800) in 2010 to 404,200 (CI: 242,500-657,600) in 2050. It is likely that Nigeria (2010: 91,000 newborns with SCA [CI: 77,900-106,100]; 2050: 140,800 [CI: 95,500-200,600]) and the Democratic Republic of the Congo (2010: 39,700 [CI: 32,600-48,800]; 2050: 44,700 [CI: 27,100-70,500]) will remain the countries most in need of policies for the prevention and management of SCA. We predict a decrease in the annual number of newborns with SCA in India (2010: 44,400 [CI: 33,700-59,100]; 2050: 33,900 [CI: 15,900-64,700]). The implementation of basic health interventions (e.g., prenatal diagnosis, penicillin prophylaxis, and vaccination) for SCA in 2015, leading to significant reductions in excess mortality among under-five children with SCA, could, by 2050, prolong the lives of 5,302,900 [CI: 3,174,800-6,699,100] newborns with SCA. Similarly, large-scale universal screening could save the lives of up to 9,806,000 (CI: 6,745,800-14,232,700) newborns with SCA globally, 85% (CI: 81%-88%) of whom will be born in sub-Saharan Africa. The study findings are limited by the uncertainty in the estimates and the assumptions around mortality reductions associated with interventions.
CONCLUSIONS:
Our quantitative approach confirms that the global burden of SCA is increasing, and highlights the need to develop specific national policies for appropriate public health planning, particularly in low- and middle-income countries. Further empirical collaborative epidemiological studies are vital to assess current and future health care needs, especially in Nigeria, the Democratic Republic of the Congo, and India. Please see later in the article for the Editors' Summary. PMCID: PMC3712914 Free Article
PMID: 23874164 [PubMed - in process]
Related citations
2. PLoS Med. 2013 Jul;10(7):e1001483. doi: 10.1371/journal.pmed.1001483. Epub 2013 Jul 16.
Sickle cell anaemia in a changing world.
Fottrell E, Osrin D.
Institute for Global Health, UCL Institute of Child Health, London, United Kingdom ; Umeå Centre for Global Health Research, Umeå University, Umeå, Sweden. Abstract
David Osrin and Edward Fottrell comment on new research by Frédéric Piel and colleagues on the growing burden of sickle cell anemia, and discuss the need for changing policy and health services in response to epidemiologic transitions in child mortality. Please see later in the article for the Editors' Summary. PMCID: PMC3712907 Free Article
PMID: 23874163 [PubMed - in process] Related citations
3. J Control Release. 2013 Jul 17. pii: S0168-3659(13)00401-X. doi: 10.1016/j.jconrel.2013.07.008. [Epub ahead of print]
Drug-Loaded Sickle Cells Programmed ex vivo for Delayed Hemolysis Target Hypoxic Tumor Microvessels and Augment Tumor Drug Delivery.
Choe SW, Terman DS, Rivers AE, Rivera J, Lottenberg R, Sorg BS.
Gumi Electronics & Information Technology Research Institute, Gumi, Korea.
Abstract
Selective drug delivery to hypoxic tumor niches remains a significant therapeutic challenge that calls for new conceptual approaches. Sickle red blood cells (SSRBCs) have shown an ability to target such hypoxic niches and induce tumoricidal properties when used together with exogenous pro-oxidants. Here we determine whether the delivery of a model therapeutic encapsulated in murine SSRBCs can be enhanced by ex vivo photosensitization under conditions that delay autohemolysis to a time that coincides with maximal localization of SSRBCs in a hypoxic tumor. Hyperspectral imaging of 4T1 carcinomas shows oxygen saturation levels <10% in a large fraction (commonly 50% or more) of the tumor. Using video microscopy of dorsal skin window chambers implanted with 4T1 tumors, we demonstrate that allogeneic SSRBCs, but not normal RBCs (nRBCs), selectively accumulate in hypoxic 4T1 tumors between 12-24 hours after systemic administration. We further show that ex vivo photo-oxidation can program SSRBCs to postpone hemolysis/release of a model therapeutic to a point that coincides with their maximum sequestration in hypoxic tumor microvessels. Under these conditions, drug-loaded photosensitized SSRBCs show a 3-4 fold greater drug delivery to tumors compared to non-photosensitized SSRBCs, drug-loaded photosensitized nRBCs, and free drug. These results demonstrate that photo-oxidized SSRBCs, but not photo-oxidized nRBCs, sequester and hemolyze in hypoxic tumors and release substantially more drug than photo-oxidized nRBCs and non-photo-oxidized SSRBCs. Photo-oxidation of drug-loaded SSRBCs thus appears to exploit the unique tumor targeting and carrier properties of SSRBCs to optimize drug delivery to hypoxic tumors. Such programmed and drug-loaded SSRBCs therefore represent a novel and useful tool for augmenting drug delivery to hypoxic solid tumors.
© 2013.
PMID: 23871960 [PubMed - as supplied by publisher]
Related citations
4. Pain Manag Nurs. 2013 Jul 16. pii: S1524-9042(13)00032-5. doi: 10.1016/j.pmn.2013.03.002. [Epub ahead of print]
Adolescent Pediatric Pain Tool for Multidimensional Measurement of Pain in Children and Adolescents.
Jacob E, Mack AK, Savedra M, Van Cleve L, Wilkie DJ.
University of California Los Angeles School of Nursing, Los Angeles, California. Electronic address: ejacob@sonnet.ucla.edu.
Abstract
Very few multidimensional tools are available for measurement of pain in children and adolescents. We critically reviewed the scientific literature to examine the psychometrics and utility of the Adolescent Pediatric Pain Tool (APPT), a multidimensional self-report tool that evaluates the intensity, location, and quality (including affective, evaluative, sensory, and temporal) dimensions of pain. The APPT is available in English and Spanish for children and adolescents, and was modeled after the McGill Pain Questionnaire in adults. We found good evidence for construct validity, reliability, and sensitivity of the APPT for the measurement of pediatric pain. The APPT was used to measure pain in children with different conditions, such as cancer, sickle cell disease, orthopedic, traumatic injuries, and allergy testing. Although the APPT was designed to assess the multiple dimensions of pain, the majority of the reports included results only for the intensity ratings. Unlike the numerical and pediatric faces rating scales, which are widely used in clinical practice and research, the APPT is not limited to the single dimension of pain intensity. It measures multiple dimensions, and may be able to discriminate between nociceptive and neuropathic pain. The APPT is one of a few multidimensional pain measures that can help to advance the science of pediatric pain and its management. When the APPT is used in practice or research, the multiple dimensions of pain may be characterized and compared in different painful conditions. It may guide the use of multimodal interventions in children and adolescents with a variety of pain conditions.
Copyright © 2013 American Society for Pain Management Nursing. Published by Elsevier Inc. All rights reserved.
PMID: 23870767 [PubMed - as supplied by publisher]
Related citations
5. J Clin Invest. 2013 Jul 1. pii: 67930. doi: 10.1172/JCI67930. [Epub ahead of print]
β-globin gene transfer to human bone marrow for sickle cell disease.
Romero Z, Urbinati F, Geiger S, Cooper AR, Wherley J, Kaufman ML, Hollis RP, de Assin RR, Senadheera S, Sahagian A, Jin X,Gellis A, Wang X, Gjertson D, Deoliveira S, Kempert P, Shupien S,Abdel-Azim H, Walters MC, Meiselman HJ, Wenby RB, Gruber T,Marder V, Coates TD, Kohn DB.
Abstract
Autologous hematopoietic stem cell gene therapy is an approach to treating sickle cell disease (SCD) patients that may result in lower morbidity than allogeneic transplantation. We examined the potential of a lentiviral vector (LV) (CCL-βAS3-FB) encoding a human hemoglobin (HBB) gene engineered to impede sickle hemoglobin polymerization (HBBAS3) to transduce human BM CD34+ cells from SCD donors and prevent sickling of red blood cells produced by in vitro differentiation. The CCL-βAS3-FB LV transduced BM CD34+ cells from either healthy or SCD donors at similar levels, based on quantitative PCR and colony-forming unit progenitor analysis. Consistent expression of HBBAS3 mRNA and HbAS3 protein compromised a fourth of the total β-globin-like transcripts and hemoglobin (Hb) tetramers. Upon deoxygenation, a lower percentage of HBBAS3-transduced red blood cells exhibited sickling compared with mock-transduced cells from sickle donors. Transduced BM CD34+ cells were transplanted into immunodeficient mice, and the human cells recovered after 2-3 months were cultured for erythroid differentiation, which showed levels of HBBAS3 mRNA similar to those seen in the CD34+ cells that were directly differentiated in vitro. These results demonstrate that the CCL-βAS3-FB LV is capable of efficient transfer and consistent expression of an effective anti-sickling β-globin gene in human SCD BM CD34+ progenitor cells, improving physiologic parameters of the resulting red blood cells.
PMID: 23863630 [PubMed - as supplied by publisher]
Related citations
6. Am J Hematol. 2013 Jul 16. doi: 10.1002/ajh.23547. [Epub ahead of print]
Pain and other non-neurological adverse events in children with sickle cell anemia and previous stroke who received hydroxyurea and phlebotomy or chronic transfusions and chelation: Results from the SWiTCH clinical trial.
Alvarez O, Yovetich NA, Scott JP, Owen W, Miller ST,
Sickle Cell News for June 2013
June 19 World Sickle Cell Day
orld Sickle Cell Day Education http://www.ippmedia.com/frontend/index.php?l=56137
Sickle cell disease been ranked the biggest killer disease among children under the age of five after malaria, hence the need for the government and stakeholders to put in more efforts to fight it. Over 90 percent of Africans are the most sufferers of the disease followed by Asians and those loving in the Mediterranean area.
This was revealed yesterday in Dar es Salaam by the Sickle Cell Foundation of Tanzania (SCFT) Chairperson, Grace Rubambey at the World Sickle Cell Day initiated by the World Health Organization (WHO) and celebrated on June 19 annually.
Rubambey said Tanzania ranks fouth in the world, with the highest number of sickle cell disease births a year (up to 11,000), after Nigeria, India and DR Congo, adding that if untreated, up to 90 percent of children may die in childhood. She said Tanzania and Africa in general is in a position of having high rates of the disease due to poverty, as patients need good services like clean water and medical treatment which are still challenges in many countries on the continent.
“Early diagnosis of sickle cell in newborns as well as comprehensive care can effectively improve the situation and reduce mortality rate by 70 percent in some countries,” she noted. She said that low understanding of the disease has been identified as the biggest challenge among Tanzanians as there is a misleading notion that associates sickle cell with HIV/Aids hence leaving many scared of attending clinics. However, CSFT launched a campaign on sickle cell called “Cycle for Sickle Cell” which began in October 2012 and turned out successful as it helped raise awareness.
For his part, sickle cell department coordinator from the Muhimbili National Hospital (MNH), Deogratius Soka said USD2m equivalent to 3bn/- is required to start building a structure for the disease’s centre. He however said as of now awareness among the public has increased whereby the number of patients attending has increased from 800 in 2004 to 4,000 this year.
He said since MNH already has a department dealing with sickle cell, they now focus on reaching other hospitals which don’t have the section by supporting them with experts and facilities. He added that Tanzania intends to introduce screening for newborns and strengthen sickle cell services in health facilities at all levels.
Soka noted that there are advances in medicine and improved knowledge on the management of sickle cell that can be implemented in Tanzania to reduce mortality and improve the quality of life of people with the disease.
Meanwhile, Kenya Commercial Bank (KCB) branch manager Philipo Pilla said the foundation needs more support from various institutions so that it reaches more people.
He added that several people are suffering but know nothing about the disease, thus more education is needed to increase awareness. SICKLE CELL FOUNDATION NIGERIA (SCFN)
www.sicklecellfoundation.com
The SCFN has, arguably, the most comprehensive Sickle Cell Centre in Africa. With donor support, we supervise, in 4 Nigerian States, the running of 6 Sickle Cell Clinics involving a free supply of drugs, some materials and some equipment. More States will be added when financial provision permits. Already, these dedicated clinics have positively impacted the longevity and quality of lives of patients. Other routine services include an e-library on SCD (membership available); genetic counseling; patient and community education; TCD scanning of children to determine risk of stroke; laboratory diagnosis; leg ulcer treatment; chorionic villus sampling (CVS) for prenatal diagnosis (PND). Access to PND is limited by the cost of having to send samples to England for DNA diagnosis. Our DNA laboratory requires some equipment and materials to enable it attain world standard, complete PND locally and thus improve access to the service. We also run training courses on Genetic Counseling, Update Seminars for doctors and nurses; Practical training on TCD scanning and on CVS under ultrasound guidance. We invite collaboration on research and office space and accommodation are available for visiting researchers. Our immediate needs are
1. 1 Apheresis machine
2. For DNA analysis
2. 1 Thermocycler (0.2ml tube)
2.2 Nano drop Spectrophotometer
2.3 GeneMapper ® ID-X v1.2 Software, Full Version for 3500 Genetic analyser
2.4 Gel Tank and Power Pack
Contact: Annette Akinsete annettea@sicklecellfoundation.com
Olu Akinyanju oakinyanju@sicklecellfoundation.com
New Free Publications from the CDC
All available at http://www.cdc.gov/ncbddd/sicklecell/freematerials.html
The Registry and Surveillance System for Hemoglobinopathies (RuSH) data for several states Toolkit for Living Well with Sickle Cell Disease Adobe PDF file Fact Sheet: Sickle Cell Disease Adobe PDF file Sickle Cell Disease National Resource Directory Adobe PDF file
The Sickle Cell Disease National Resource Directory is a compilation of national agencies, state-based health providers, and community-based organizations that provide services and resources for individuals and families affected by SCD.
New Video
Sickle Cell Disease on the Doctors TV show http://www.thedoctorstv.com/main/show_synopsis/1221?section=synopsis
CDC webinar: from May Baby on Board: What You Need to Know about Pregnancy in the Hemoglobinopathies
Dr. Sophie Lanzkron, Sickle Cell Center for Adults at Johns Hopkins Hospital
mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDCbabyonboard.wmv
SAVE THE DATES
Fellow colleagues, you are invited to participate in the“Public Health Webinar Series on Hemoglobinopathies” Hosted by: The Division of Blood Disorders, CDC 4th Thursday of every month from 2:00PM – 3:00PM EST
6/27: Beta-globin Haplotype Analysis in Children with Sickle Cell Anemia
Dr. Christopher Bean, National Center on Birth Defects and Developmental Disabilities, CDC
7/25: Nurses’ Impact on the Stigmatization of Individuals with Sickle Cell: Challenges and Recommendations
Dr. Coretta Jenerette, International Association of Sickle Cell Nurses and Physician Assistants
8/22: Mental Health and Learning Needs in children with Sickle Cell Disease
Dr. Patricia Kavanagh, Boston University School of Medicine/Boston Medical Center
9/26: NHLBI Sickle Cell Disease Guidelines
Dr. Joylene John-Sowah, National Heart Lung and Blood Institute, NIH
10/24: Current Data on Efficacy and Effectiveness of Hydroxyurea in Children with Sickle Cell Disease
Dr. Winfred Wang, St. Jude Children’s Research Hospital
November/December: --- No Webinars---
If you have ideas on topics for future webinars, or have any questions or comments about this series please submit them to Shae Pope spope@cdc.gov . The purpose of this webinar series is to offer a hemoglobinopathies learning collaborative platform for providers, consumers, educators, and scientists. CDC Web based Sickle Cell Resources
CDC’s YouTube Link: http://www.youtube.com/watch?v=gnrvYsZWR1c&list=UUiMg06DjcUk5FRiM3g5sqoQ&index=2&feature=plpp_video
CDC Video Archive (http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-health
CDC Sickle Cell Disease Webpage: http://wwwdev.cdc.gov/NCBDDD/sicklecell/video.html
Articles in the Medical Literature for June
1. Clin Chim Acta. 2013 Jun 21. pii: S0009-8981(13)00248-9. doi: 10.1016/j.cca.2013.06.007. [Epub ahead of print]
HPLC-ESI-MS/MS analysis of hemoglobin peptides in tryptic digests of dried-blood spot extracts detects HbS, HbC, HbD, HbE, HbO-Arab, and HbG-Philadelphia mutations.
Haynes CA, Guerra SL, Fontana JC, Dejesús VR.
Biochemical Mass Spectrometry Laboratory, Centers for Disease Control and Prevention, 4770 Buford Hwy. NE, Mail Stop F-19, Atlanta, GA, 30341. Electronic address: cph7@cdc.gov.
Abstract
BACKGROUND:
Hemoglobinopathies are mutations resulting in abnormal globin chain structure; some have clinically significant outcomes such as anemia or reduced lifespan. Five β-globinmutations are (c.20A>T, p.E6V), (c.19G>A, p. E6K),(c.79G>A, p.E26K),(c.364G>C, p.E121Q), and(c.364G>A, p.E121K), resulting in HbS (sickle-cell hemoglobin), HbC, HbE,HbD-Los Angeles, and HbO-Arab, respectively. One α-globin mutation is (c.[207C>G or 207C>A], p.N68K), resulting in HbG-Philadelphia.
METHODS:
HPLC-ESI-MS/MS analysis of dried-blood spot (DBS) punches from newborns extracted with a trypsin-containing solution provides greater than 90% coverage of α-, β-, and γ-globinamino acid sequences. Because the(c.20A>T, p.E6V), (c.19G>A, p. E6K), (c.79G>A, p.E26K), (c.364G>C, p.E121Q), (c.364G>A, p.E121K), and (c.[207C>G or 207C>A], p.N68K)mutations generate globinpeptides with novel amino acid sequences, detecting one of these peptides in DBS extracts is indicative of the presence of ahemoglobinopathy in the newborn.
RESULTS:
The method described here can distinguish normal β-globin peptides from the mutant HbS,HbC, HbE,HbD-Los AngelesandHbO-Arab peptides, as well as normal α-globin peptide from the mutant HbG-Philadelphia peptide, allowing the identification of unaffected heterozygotes such as HbAS, and of compound heterozygotes such as HbASG-Philadelphia.
CONCLUSIONS:
This HPLC-ESI-MS/MS analytical approach provides informationthat is not available from traditional hemoglobin analyses such as isoelectric focusing and HPLC-UV. It is also capable of determining the amino acid sequence of hemoglobinpeptides, potentially allowing the detection of numerous hemoglobinopathiesresulting from point mutations.
Published by Elsevier B.V.
PMID: 23796846 [PubMed - as supplied by publisher]
2. Pediatr Blood Cancer. 2013 Jun 17. doi: 10.1002/pbc.24624. [Epub ahead of print]
Clinically meaningful measurement of pain in children with sickle cell disease.
Myrvik MP, Brandow AM, Drendel AL, Yan K, Hoffmann RG, Panepinto JA.
Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin; Division of Pediatric Hematology/Oncology/Transplant, Medical College of Wisconsin, Milwaukee, Wisconsin.
Abstract
BACKGROUND:
Limited understanding of the interpretability of patient-reported pain scores may impact pain management. The current study assessed the minimal clinically significant improvement in pain and pain scores signifying patient-reported need for medication and treatment satisfaction in patients with sickle cell disease (SCD).
PROCEDURE:
Patients, 8-18-years-old, with SCD were recruited while receiving treatment for pain. Patients completed initial pain severity ratings using the Visual Analog Scale (VAS) and the Numeric Rating Scale (NRS). Serial assessments of pain severity, pain relief, perceived need for medication, and treatment satisfaction were completed in the emergency department and the hospitalization. Data were used to calculate the minimal clinically significant improvement in pain and pain scores associated with perceived need for pain medication and treatment satisfaction.
RESULTS:
Twenty-eight patients completed 305 assessments during 37 total visits. A decrease in pain severity score of 0.97 cm for the VAS and 0.9 for the NRS was found to be the minimum clinically significant improvement in pain. Pain scores >7.45 cm on the VAS or 7.5 on the NRS were suggestive of patient-reported need for pain medication. Pain scores <7.35 cm on the VAS or 8.5 on the NRS were suggestive of patient-reported treatment satisfaction discrimination.
CONCLUSIONS:
The minimal clinical significant improvement was defined for the VAS and NRS and both scales were able to discriminate between important clinical findings including pain relief, need for pain medication, and treatment satisfaction. Collectively, this study provides data to improve our understanding of pain ratings of pediatric patients with SCD. Pediatr Blood Cancer 2013;9999:1-7. © 2013 Wiley Periodicals, Inc.
Copyright © 2013 Wiley Periodicals, Inc.
PMID: 23776145 [PubMed - as supplied by publisher]
Related citations
3. Pediatr Blood Cancer. 2013 Jun 18. doi: 10.1002/pbc.24630. [Epub ahead of print]
Trends in blood transfusion among hospitalized children with sickle cell disease.
Raphael JL, Oyeku SO, Kowalkowski MA, Mueller BU, Ellison AM.
Department of Pediatrics, Baylor College of Medicine, Houston, Texas.
Abstract
BACKGROUND:
Blood transfusions represent a major therapeutic option in acute management of sickle cell disease (SCD). Few data exist documenting trends in transfusion among children with SCD, particularly during hospitalization.
PROCEDURE:
This was an analysis of cross-sectional data of hospital discharges within the Kid's Inpatient Database (years 1997, 2000, 2003, 2006, 2009). Hospitalizations for children (0-18 years) with a primary or secondary SCD-related diagnosis were examined. The primary outcome was blood transfusion. Trends in transfusion were assessed using weighted multivariate logistic regression in a merged dataset with year as the primary independent variable. Co-variables consisted of child and hospital characteristics. Multivariate logistic regression was conducted for 2009 data to assess child and hospital-level factors associated with transfusion.
RESULTS:
From 1997 to 2009, the percentage of SCD-related hospitalizations with transfusion increased from 14.2% to 28.8% (P < 0.0001). Among all SCD-related hospitalizations, the odds of transfusion increased over 20% for each successive study interval. Hospitalizations with vaso-occlusive pain crisis (OR 1.35, 95% CI 1.27-1.43) or acute chest syndrome/pneumonia (OR 1.24, 95% CI 1.13-1.35) as the primary diagnoses had the highest odds of transfusion for each consecutive study interval. Older age and male gender were associated with higher odds of transfusion.
CONCLUSIONS:
Blood transfusion is increasing over time among hospitalized children with SCD. Further study is warranted to identify indications contributing to the rise in transfusions and if transfusions in the inpatient setting have been used appropriately. Future studies should also assess the impact of rising trends on morbidity, mortality, and other health-related outcomes. Pediatr Blood Cancer © 2013 Wiley Periodicals, Inc.
Copyright © 2013 Wiley Periodicals, Inc.
PMID: 23775719 [PubMed - as supplied by publisher]
Related citations
4. Blood. 2013 Jun 17. [Epub ahead of print]
Mast cell activation contributes to sickle cell pathobiology and pain.

Vincent L, Vang D, Nguyen J, Gupta M, Luk K, Ericson ME, Simone DA, Gupta K.
Vascular Biology Center, Division of Hematology, Oncology & Transplantation, Department of Medicine, University of Minnesota, Minneapolis, MN, United States;
Abstract
Sickle cell anemia (SCA) is an inherited disorder associated with severe life-long pain and significant morbidity. The mechanisms of pain in SCA remain poorly understood. We show that mast cell activation/degranulation contributes to sickle pain pathophysiology by promoting neurogenic inflammation and nociceptor activation via the release of substance P in the skin and dorsal root ganglion. Mast cell inhibition with imatinib ameliorated cytokine release from skin biopsies and led to a correlative decrease between GMCSF and white blood cells in sickle mice. Targeting mast cells by genetic mutation or pharmacologic inhibition with imatinib ameliorates tonic hyperalgesia and prevents hypoxia/reoxygenation-induced hyperalgesia in sickle mice. Pre-treatment with the mast cell stabilizer Cromolyn sodium improved analgesia following low doses of morphine that would otherwise be ineffective. Mast cell activation therefore underlies sickle pathophysiology leading to inflammation, vascular dysfunction, pain and requirement for high doses of morphine. Pharmacological targeting of mast cells with imatinib may be a suitable approach to address pain and perhaps treat SCA.
PMID: 23775718 [PubMed - as supplied by publisher]
Related citations
5. Cochrane Database Syst Rev. 2013 Jun 12;6:CD010155. [Epub ahead of print]
Low-molecular-weight heparins for managing vaso-occlusive crises in people with sickle cell disease.
van Zuuren EJ, Fedorowicz Z.
Department of Dermatology, Leiden University Medical Center, PO Box 9600, B1-Q, Leiden, Netherlands, 2300 RC.
Abstract
BACKGROUND:
Sickle cell disease is one of the most common and severe genetic disorders in the world. It can be broadly divided into two distinct clinical phenotypes characterized by either haemolysis or vaso-occlusion. Pain is the most prominent symptom of vaso-occlusion, and hypercoagulability is a well-established pathogenic phenomenon in people with sickle cell disease. Low-molecular-weight heparins might control this hypercoagulable state through their anticoagulant effect.
OBJECTIVES:
To assess the effects of low-molecular-weight heparins for managing vaso-occlusive crises in people with sickle cell disease.
SEARCH METHODS:
We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Haemoglobinopathies Trials Register comprising references identified from comprehensive electronic database searches. We also searched abstract books of conference proceedings and several online trials registries for ongoing trials.Date of the last search of the Cochrane Cystic Fibrosis and Genetic Disorders Group Haemoglobinopathies Trials Register: 6 December 2012.
SELECTION CRITERIA:
Randomised controlled clinical trials and controlled clinical trials that assessed the effects of low-molecular-weight heparins in the management of vaso-occlusive crises in people with sickle cell disease.
DATA COLLECTION AND ANALYSIS:
Study selection, data extraction, assessment of risk of bias and analyses were carried out independently by the two review authors.
MAIN RESULTS:
One study (with an overall unclear to high risk of bias) comprising 253 participants was included. This study, with limited data, reported that pain severity at day two and day three was lower in the tinzaparin group than in the placebo group (P < 0.01, analysis of variance (ANOVA)) and additionally at day 4 (P < 0.05 (ANOVA)). Thus tinzaparin resulted in more rapid resolution of pain, as measured with a numerical pain scale. The mean difference in duration of painful crises was statistically significant at -1.78 days in favour of the tinzaparin group (95% confidence interval -1.94 to -1.62). Participants treated with tinzaparin had statistically significantly fewer hospitalisation days than participants in the group treated with placebo, with a mean difference of -4.98 days (95% confidence interval -5.48 to -4.48). Two minor bleeding events were reported as adverse events in the tinzaparin group, and none were reported in the placebo group.
AUTHORS' CONCLUSIONS:
Based on the results of one study, evidence is incomplete to support or refute the effectiveness of low-molecular-weight heparins in people with sickle cell disease. Vaso-occlusive crises are extremely debilitating for sufferers of sickle cell disease; therefore well-designed placebo-controlled studies with other types of low-molecular-weight heparins, and in participants with different genotypes of sickle cell disease, still need to be carried out to confirm or dismiss the results of this single study.
PMID: 23760785 [PubMed - as supplied by publisher]
Related citations
6. PLoS One. 2013 Jun 6;8(6):e65001. doi: 10.1371/journal.pone.0065001. Print 2013.
Dilemma in Differentiating between Acute Osteomyelitis and Bone Infarction in Children with Sickle Cell Disease: The Role of Ultrasound.
Inusa BP, Oyewo A, Brokke F, Santhikumaran G, Jogeesvaran KH.
Department of Paediatrics, Evelina Children's Hospital, Guy's and St. Thomas' National Health Service (NHS) Foundation Trust, London, United Kingdom. Abstract
BACKGROUND:
Distinguishing between acute presentations of osteomyelitis (OM) and vaso-occlusive crisis (VOC) bone infarction in children with sickle cell disease (SCD) remains challenging for clinicians, particularly in culture-negative cases. We examined the combined role of ultrasound scan (USS), C - reactive protein and White blood counts (WCC) in aiding early diagnosis in children with SCD presenting acutely with non-specific symptoms such as bone pain, fever or swelling which are common in acute osteomyelitis or VOC.
METHODS:
We reviewed the records of all children with SCD who were discharged from our department from October 2003 to December 2010 with a diagnosis of osteomyelitis based on clinical features and the results of radiological and laboratory investigations. A case control group with VOC who were investigated for OM were identified over the same period.
RESULTS:
In the osteomyelitis group, USS finding of periosteal elevation and/or fluid collection was reported in 76% cases with the first scan (day 0-6). Overall 84% were diagnosed with USS (initial +repeat). 16% had negative USS. With VOC group, USS showed no evidence of fluid collection in 53/58 admissions (91%), none of the repeated USS showed any fluid collection. Mean C-reactive protein (CRP), and white cell count (WCC) were significantly higher in the OM.
CONCLUSION:
The use of Ultrasound in combination with CRP and WCC is a reliable, cost-effective diagnostic tool for differentiating osteomyelitis from VOC bone infarction in SCD. A repeat ultrasound and/or magnetic resonance imaging (MRI) scan may be is necessary to confirm the diagnosis.
PMCID: PMC3675051 Free PMC Article
PMID: 23755165 [PubMed - in process]
Related citations
7. PLoS Negl Trop Dis. 2013 May 30;7(5):e2120. doi: 10.1371/journal.pntd.0002120. Print 2013 May.
Is sickle cell anemia a neglected tropical disease?
Ware RE.
Texas Children's Center for Global Health, Texas Children's Hospital, Houston, Texas, United States of America ; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States of America.
PMCID: PMC3671937 Free PMC Article
PMID: 23750287 [PubMed - in process]
Related citations
8. Atherosclerosis. 2013 May 16. pii: S0021-9150(13)00309-2. doi: 10.1016/j.atherosclerosis.2013.05.006. [Epub ahead of print]
Stroke in sickle cell anemia patients: A need for multidisciplinary approaches.
Menaa F.
Center of Hematology and Hemotherapy (Hemocentro), School of Medicine and Medical Sciences (FCM), University of Campinas (UNICAMP), São Paulo, Brazil; Laboratory of Human Molecular Genetics, Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas (UNICAMP), São Paulo, Brazil; Department of Nanomedicine and Biochemistry, Fluorotronics, Inc., San Diego, CA, USA. Electronic address: dr.fmenaa@gmail.com.
Abstract
Sickle cell anemia (SCA) is an autosomal recessive disorder, with Mendelian inheritance pattern, caused by a missense mutation in the β-polypeptide chain of the hemoglobin B. SCA preferentially affects populations in countries where malaria was/is present (e.g. Africa, USA, Brazil). Thereby, in USA, the incidence of SCA is relatively high, around 1/500, and the prevalence is about 1/1000. In Brazil, SCA represents a major public health problem with an incidence ranging from 1/2000 to 1/600 depending on the regions. Homozygotic patients present more severe medical conditions and reduced life expectancy than heterozygous individuals who generally are asymptomatic. Eventually, this life-threatening disease displays a complex etiology owing to heterogeneous phenotypes and clinical outcomes, subsequently affecting the management of the patients. One of the most critical complications associated with SCA is stroke, a leading neurologic cause of death and disability. About 24% of SCA patients have a stroke by the age of 45 and 11% by the age of 20. From the general population, twin and familial aggregation studies as well as genome-wide association studies (GWAS), mostly in pediatric populations with ischemic stroke, showed that the risk of stroke has a substantial genetic component. Nevertheless, to fully characterize genomic contributors of stroke and permit reliable personalized medicine, multidisciplinary studies incorporating knowledge from clinical medicine, epidemiology, genetics, and molecular biology, are required. In this manuscript, stroke in SCA patients is extensively reviewed with emphasis to the US and Brazilian populations. Recent advances in genomics analysis of stroke in SCA patients are highlighted.
Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.
PMID: 23746538 [PubMed - as supplied by publisher]
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9. Cochrane Database Syst Rev. 2013 May 31;5:CD007001. doi: 10.1002/14651858.CD007001.pub3.
Hematopoietic stem cell transplantation for people with sickle cell disease.
Oringanje C, Nemecek E, Oniyangi O.
Institute of Tropical Disease Research and Prevention, University of Calabar Teaching Hospital, Calabar, Nigeria. chyoma12@yahoo.com.
Update of
Cochrane Database Syst Rev. 2009;(1):CD007001.
Abstract
BACKGROUND:
Sickle cell disease is a genetic disorder involving a defect in the red blood cells due to its sickled hemoglobin. The main therapeutic interventions include preventive and supportive measures. Hematopoietic stem cell transplantations are carried out with the aim of replacing the defective cells and their progenitors (hematopoietic (i.e. blood forming) stem cells) in order to correct the disorder.
OBJECTIVES:
To determine whether stem cell transplantation can improve survival and prevent symptoms and complications associated with sickle cell disease. To examine the risks of stem cell transplantation against the potential long-term gain for people with sickle cell disease.
SEARCH METHODS:
We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Group's Haemoglobinopathies Trials Register complied from electronic searches of the Cochrane Central Register of Controlled Trials (CENTRAL) (updated each new issue of The Cochrane Library) and quarterly searches of MEDLINE.Unpublished work was identified by searching the abstract books of major conference proceedings and we conducted a search of the website: www.ClinicalTrials.gov.Date of the most recent search of the Group's Haemoglobinopathies Trials Register: 16 August 2012.
SELECTION CRITERIA:
Randomized controlled and quasi-randomized studies that compared any method of stem cell transplantation with either each other or with any of the preventive or supportive interventions (e.g. periodic blood transfusion, use of hydroxyurea, antibiotics, pain relievers, supplemental oxygen) in people with sickle cell disease irrespective of the type of sickle cell disease, gender and setting.
DATA COLLECTION AND ANALYSIS:
No relevant trials were identified.
MAIN RESULTS:
Ten trials were identified by the initial search and none for the update. None of these trials were suitable for inclusion in this review.
AUTHORS' CONCLUSIONS:
Reports on the use of hematopoietic stem cell transplantation improving survival and preventing symptoms and complications associated with sickle cell disease are currently limited to observational and other less robust studies. No randomized controlled trial assessing the benefit or risk of hematopoietic stem cell transplantations was found. Thus, this systematic review identifies the need for a multicentre randomized controlled trial assessing the benefits and possible risks of hematopoietic stem cell transplantations comparing sickle status and severity of disease in people with sickle cell disease.
PMID: 23728664 [PubMed - in process]
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10. Cochrane Database Syst Rev. 2013 May 31;5:CD003425. doi: 10.1002/14651858.CD003425.pub2.
Splenectomy versus conservative management for acute sequestration crises in people with sickle cell disease.
Owusu-Ofori S, Hirst C.
Transfusion Medicine Unit, Komfo Anokye Teaching Hospital, Kumasi, Ghana.sowusu_ofori@hotmail.com.
Update of
Cochrane Database Syst Rev. 2002;(4):CD003425.
Abstract
BACKGROUND:
Acute splenic sequestration crises are a complication of sickle cell disease, with high mortality rates and frequent recurrence in survivors of first attacks. Splenectomy and blood transfusion, with their consequences, are the mainstay of long-term management used in different parts of the world.
OBJECTIVES:
To assess whether splenectomy (total or partial), to prevent acute splenic sequestration crises in people with sickle cell disease, improved survival and decreased morbidity in people with sickle cell disease, as compared with regular blood transfusions.
SEARCH METHODS:
We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Haemoglobinopathies Trials Register, which comprises of references identified from comprehensive electronic database searches and handsearching relevant journals and abstract books of conference proceedings.Additional trials were sought from the reference lists of the trials and reviews identified by the search strategy.Date of the most recent search: 06 December 2012.
SELECTION CRITERIA:
All randomized or quasi-randomized controlled trials comparing splenectomy (total or partial) to prevent recurrence of acute splenic sequestration crises with no treatment or blood transfusions in people with sickle cell disease.
DATA COLLECTION AND ANALYSIS:
No trials of splenectomy for acute splenic sequestration were found.
MAIN RESULTS:
No trials of splenectomy for acute splenic sequestration were found.
AUTHORS' CONCLUSIONS:
Splenectomy, if full, will prevent further sequestration and if partial, may reduce the recurrence of acute splenic sequestration crises. However, there is a lack of evidence from trials showing that splenectomy improves survival and decreases morbidity in people with sickle cell disease. There is a need for a well-designed, adequately-powered, randomized controlled trial to assess the benefits and risks of splenectomy compared to transfusion programmes, as a means of improving survival and decreasing mortality from acute splenic sequestration in people with sickle cell disease.
PMID: 23728644 [PubMed - in process]
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11. J Arthroplasty. 2013 May 28. pii: S0883-5403(13)00259-3. doi: 10.1016/j.arth.2013.03.017. [Epub ahead of print]
Excellent Results and Minimal Complications of Total Hip Arthroplasty in Sickle Cell Hemoglobinopathy at Mid-Term Follow-Up Using Cementless Prosthetic Components.
Issa K, Naziri Q, Maheshwari AV, Rasquinha VJ, Delanois RE, Mont MA.
Rubin Institute for Advanced Orthopedics, Center for Joint Preservation and Replacement, Sinai Hospital of Baltimore, Baltimore, Maryland.
Abstract
The purpose of this study was to compare the outcomes of cementless primary total hip arthroplasty (THA) in sickle cell patients compared to the remaining cohort of osteonecrosis patients who did not have this disease. Thirty-two sickle cell patients (42 hips) who had a mean age of 37years and mean follow-up of 7.5years (range, 5-11years) were compared to 87 non-sickle cell osteonecrosis patients (102 hips) who had mean age of 43years and mean follow-up of 7years (range, 3-10.5years). Outcomes evaluated included implant survivorship, Harris hip scores, complication rates, radiographic outcomes, and Short Form-(SF-36) health questionnaire. There were no significant differences in aseptic implant survivorship (95 vs. 97%), Harris hip scores (87 vs. 88 points), SF-36 score, or radiographic findings between the two patient cohorts. In light of these findings, we believe that the outcomes of THA improved in sickle cell patients with optimized medical management and the use of cementless prosthetic devices.
Copyright © 2013 Elsevier Inc. All rights reserved.
PMID: 23726348 [PubMed - as supplied by publisher]
Related citations
Sickle Cell Conferences and Events
SCDAA 41ST ANNUAL CONVENTION BALTIMORE MD
September 24th - 27th "2013 Moving Forward: Advocating for New Discoveries, Advancements and Breakthroughs"http://www.sicklecelldisease.org
/index.cfm?page=annual-convention
ESH Eurocord-Ed Eurocord World Cord Blood Congress IV and Innovative Therapies for Sickle Cell Disease Oct 24 – 27, 2013 Monaco http://www.esh.org
/conference/esh-eurocord-ed-eurocord-world-cord-blood-congress-iv/
7th Annual Sickle Cell and Thalassaemia Conference: UK 3-5 October 2013
Improving the quality of life for patients affected with Sickle Cell Disease and Thalassaemia
Now in its seventh year, this annual Sickle Cell Disease and Thalassaemia Conference run by Evelina Children’s Hospital at Guy's and St Thomas' NHS Foundation Trust will take place from3rd to 5th October 2013.Combining theory and clinical practice and drawing on the latest research in the field, this annual Conference is intended for all those health care professionals involved in the diagnosis, treatment and care of patients with Sickle Disease and Thalassaemia.To book or for further information, please visit the website www.guysandstthomasevents.co.uk
Global Sickle Cell Diseases Network Conference: Rio De Janeiro, Brazil, April 9-11, 2014website www.globalsicklecelldisease.org
Sickle Cell News for May 2013
June 19 World Sickle Cell Day http://worldsicklecellday.webs.com/
The World Health Organization (WHO) has started work to promote a world wide agenda to address hemoglobin dysfunctions.
WHO has made a commitment to:
Recognize that sickle cell disease is a major health issue.
Increase awareness of the world community regarding sickle cell disease.
Eliminate harmful and wrong prejudices associated with sickle cell disease.
Urges member countries where sickle cell disease is a public health problem to establish health programs at the national level and operate specialized centers for sickle cell disease and facilitate access to treatment.
Promote satisfactory access to medical services to people affected with sickle cell disease.
Provide technical support to all countries to prevent and manage sickle cell disease.
Promote and help research to improve the lives of people affected with sickle cell disease.
The World Sickle Cell day is celebrated across the globe with special emphasis in African Nations and Asia. The celebrations include a press, media campaigns, music shows, cultural activities, and talk shows.
The main emphasis is hence on educating medical professionals, care givers, and associated personnel about prevention, research, and resources to minimize the complications due to sickle cell disease. Hence June 19th is devoted mainly to spread awareness, through talks, seminars, pamphlets, literature and consultations.
SCDAA Announces Kier "Junior" Spates as Ambassador http://www.sicklecelldisease.org/index.cfm?page=news&id=34
Comedian Kier "Junior" Spates of the Steve Harvey Morning Show is joining the fight against sickle cell disease. Spates signed on as the national celebrity ambassador for the Sickle Cell Disease Association of America, Inc. (SCDAA) after recently speaking out about his struggle with the disease. Together, SCDAA and Spates will launch the "Rise Above" initiative. The campaign will educate and raise awareness about the blood disease across the nation.
Spates, a native of Houston, Texas, boasts an impressive resume that includes television spots on Black Entertainment Television, collaborative efforts on the "Rickey Smiley and Friends" show and his role in Hinton Battle's "Love Lies" stage play. He is most notably known today for his hilarious and high energy commentary on the Steve Harvey Morning Show. "We are excited to work with such a bright talent as Kier. He is the perfect choice for raising awareness about sickle cell disease in addition to spreading joy to those who support our cause," says SCDAA President Sonja Banks.
Spates is also living with sickle cell disease. He hopes to inspire others and increase the support and visibility of the disease through this recent partnership with the SCDAA. Please visitwww.facebook.com/riseabovecampaign for updates about SCDAA's joint "Rise Above" campaign with Spates.
New Video
New Parents hand book and Children’s DVD produced in the UK
The 3rd Edition of, 'A Parents guide to managing Sickle Cell Disease', in English is available on the UK national screening web site www.sct.screening.nhs.ukand on the Brent Centre web site www.sickle-thal.nwlh.nhs.uk. It is being translated into French also and will be available in the summer. A new children's DVD, 'My Sickle Cell Disease and Me', funded by Roald Dhal, aimed at children aged 5 - 11years is available on the Brent Centre web site www.sickle-thal.nwlh.nhs.uk SAVE THE DATES
Fellow colleagues, you are invited to participate in the“Public Health Webinar Series on Hemoglobinopathies” Hosted by: The Division of Blood Disorders, CDC 4th Thursday of every month from 2:00PM – 3:00PM EST
6/27: Beta-globin Haplotype Analysis in Children with Sickle Cell Anemia
Dr. Christopher Bean, National Center on Birth Defects and Developmental Disabilities, CDC
7/25: Nurses’ Impact on the Stigmatization of Individuals with Sickle Cell: Challenges and Recommendations
Dr. Coretta Jenerette, International Association of Sickle Cell Nurses and Physician Assistants
8/22: Mental Health and Learning Needs in children with Sickle Cell Disease
Dr. Patricia Kavanagh, Boston University School of Medicine/Boston Medical Center
9/26: NHLBI Sickle Cell Disease Guidelines
Dr. Joylene John-Sowah, National Heart Lung and Blood Institute, NIH
10/24: Current Data on Efficacy and Effectiveness of Hydroxyurea in Children with Sickle Cell Disease
Dr. Winfred Wang, St. Jude Children’s Research Hospital
November/December: --- No Webinars---
If you have ideas on topics for future webinars, or have any questions or comments about this series please submit them to Shae Pope spope@cdc.gov . The purpose of this webinar series is to offer a hemoglobinopathies learning collaborative platform for providers, consumers, educators, and scientists. CDC Web based Sickle Cell Resources CDC’s YouTube Link: http://www.youtube.com/watch?v=gnrvYsZWR1c&list=UUiMg06DjcUk5FRiM3g5sqoQ&index=2&feature=plpp_video CDC Video Archive (http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-health CDC Sickle Cell Disease Webpage: http://wwwdev.cdc.gov/NCBDDD/sicklecell/video.html Articles in the Medical Literature for May
1. J Pain. 2013 May 20. pii: S1526-5900(13)00938-3. doi: 10.1016/j.jpain.2013.03.007. [Epub ahead of print]
Validation of the Sickle Cell Disease Pain Burden Interview-Youth.
Zempsky WT, O'Hara EA, Santanelli JP, Palermo TM, New T, Smith-Whitley K, Casella JF.
Division of Pain and Palliative Medicine, Department of Pediatrics, Connecticut Children's Medical Center, Hartford, Connecticut; University of Connecticut School of Medicine, Farmington, Connecticut. Electronic address: wzempsk@ccmckids.org.
Abstract
The purpose of this study was to develop and validate a brief, clinically relevant, multidimensional interview to assess pain burden among children and adolescents with sickle cell disease (SCD). The Sickle Cell Disease Pain Burden Interview-Youth (SCPBI-Y) was developed using a panel of experts, patients, and caregivers. Validation was undertaken with children and youth with SCD, ages 7 to 21 years (N = 129), recruited from 4 urban children's hospitals. Participants were recruited from inpatient (n = 62) and outpatient (n = 67) settings. The SCPBI-Y demonstrated strong internal consistency reliability, cross-informant concordance (child-caregiver), and test-retest reliability (outpatient setting). Moderate construct validity was found with validated measures of functional ability, pain, and quality of life. The SCPBI-Y demonstrated construct validity using a contrasted group approach between youth in inpatient versus outpatient settings and by severity of SCD symptoms, suggesting that youth in inpatient settings and with higher disease severity exhibited greater pain burden. Discriminant validity was found between SCPBI-Y and mood. Our preliminary findings suggest that the SCPBI-Y is a valid and reliable multidimensional interview that can be used in different clinical settings to evaluate pain burden among children and adolescents with SCD. PERSPECTIVE: Multifaceted pain assessments are salient in providing optimal care to children and adolescents with SCD; however, current evaluations are lengthy and cumbersome to administer clinically. The current study introduces and validates a brief, clinically useful multidimensional interview to evaluate pain burden specific to youth with SCD. Copyright © 2013 American Pain Society. Published by Elsevier Inc. All rights reserved.
PMID: 23701707 [PubMed - as supplied by publisher]
Related citations
2. PLoS Pathog. 2013 May;9(5):e1003327. doi: 10.1371/journal.ppat.1003327. Epub 2013 May 16.
Hemoglobinopathies: Slicing the Gordian Knot of Plasmodium falciparum Malaria Pathogenesis.
Taylor SM, Cerami C, Fairhurst RM.
Division of Infectious Diseases and International Health, Duke University Medical Center, Durham, North Carolina, United States of America ; Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, North Carolina, United States of America.
Abstract
Plasmodium falciparum malaria kills over 500,000 children every year and has been a scourge of humans for millennia. Owing to the co-evolution of humans and P. falciparum parasites, the human genome is imprinted with polymorphisms that not only confer innate resistance to falciparum malaria, but also cause hemoglobinopathies. These genetic traits-including hemoglobin S (HbS), hemoglobin C (HbC), and α-thalassemia-are the most common monogenic human disorders and can confer remarkable degrees of protection from severe, life-threatening falciparum malaria in African children: the risk is reduced 70% by homozygous HbC and 90% by heterozygous HbS (sickle-cell trait). Importantly, this protection is principally present for severe disease and largely absent for P. falciparum infection, suggesting that these hemoglobinopathies specifically neutralize the parasite's in vivo mechanisms of pathogenesis. These hemoglobin variants thus represent a "natural experiment" to identify the cellular and molecular mechanisms by which P. falciparum produces clinical morbidity, which remain partially obscured due to the complexity of interactions between this parasite and its human host. Multiple lines of evidence support a restriction of parasite growth by various hemoglobinopathies, and recent data suggest this phenomenon may result from host microRNA interference with parasite metabolism. Multiple hemoglobinopathies mitigate the pathogenic potential of parasites by interfering with the export of P. falciparum erythrocyte membrane protein 1 (PfEMP1) to the surface of the host red blood cell. Few studies have investigated their effects upon the activation of the innate and adaptive immune systems, although recent murine studies suggest a role for heme oxygenase-1 in protection. Ultimately, the identification of mechanisms of protection and pathogenesis can inform future therapeutics and preventive measures. Hemoglobinopathies slice the "Gordian knot" of host and parasite interactions to confer malaria protection, and offer a translational model to identify the most critical mechanisms of P. falciparum pathogenesis.
PMCID: PMC3656091 Free PMC Article
PMID: 23696730 [PubMed - in process]
Related citations
3. Value Health. 2013 May;16(3):A121. doi: 10.1016/j.jval.2013.03.579. Epub 2013 May 3. Expanding concepts of opioid-taking behavior in sickle cell disease: A multi-phase, mixed methods study. Alsalman AJ, Li Wong JK, Hassan NT, Smith WR. Virginia Commonwealth University, Richmond, VA, USA. PMID: 23693291 [PubMed - in process] Related citations
4.
Pediatr Blood Cancer. 2013 May 15. doi: 10.1002/pbc.24588. [Epub ahead of print]
Association Between Baseline Fetal Hemoglobin Levels and Incidence of Severe Vaso-Occlusive Pain Episodes in Children With Sickle Cell Anemia. Bhatnagar P, Keefer JR, Casella JF, Barron-Casella EA, Bean CJ, Hooper CW, Payne AB, Arking DE, Debaun MR.
McKusick-Nathans Institute of Genetic Medicine, School of Medicine, Johns Hopkins University, Baltimore, Maryland.
Abstract
The ameliorating effect of high fetal hemoglobin (HbF) levels on the incidence of pain episodes in sickle cell anemia (SCA) is well-known; however, in children this relationship is less clearly established. We hypothesized that higher HbF levels in children with SCA are associated with fewer severe pain episodes. A meta-analysis of data from the Silent Infarct Transfusion Trial (n = 456) and the Cooperative Study of Sickle Cell Disease (n = 764), demonstrated that baseline HbF levels were associated with the incidence of severe pain, commonly defined across studies as an event requiring hospitalization (P-value = 0.02). Pediatr Blood Cancer © 2013 Wiley Periodicals, Inc.
Copyright © 2013 Wiley Periodicals, Inc.
PMID: 23677903 [PubMed - as supplied by publisher]
Related citations
5.
J Pediatr Hematol Oncol. 2013 May 9. [Epub ahead of print]
Transcranial Doppler in Sickle Cell Disease.
Sarkar N, Sharma VK.
*Division of Neurology, National University Hospital †Yong Loo Lin School of Medicine National University of Singapore, Singapore. PMID: 23669727 [PubMed - as supplied by publisher]
Related citations
6. Clin J Pain. 2013 May 9. [Epub ahead of print]
Differences in Pain Management Between Hematologists and Hospitalists Caring for Patients With Sickle Cell Disease Hospitalized for Vasoocclusive Crisis. Shah N, Rollins M, Landi D, Shah R, Bae J, De Castro LM.
*Department of Pediatric Hematology/Oncology †Division of Hematology ‡Department of Pediatrics §Division of Oncology ∥Department of Hospital Medicine, Duke University Medical Center, Durham, NC.
Abstract
OBJECTIVES:: Sickle cell disease (SCD) is a chronic disease characterized by multiple vaso-occlusive complications and is increasingly cared for by hospitalists. The purpose of this study is to examine differences in pain management between hematologists and hospitalists. METHODS:: We performed a single-institution, retrospective review of pain management patterns and outcomes in adult SCD patients hospitalized for vaso-occlusive crisis. RESULTS:: Over 26 months, we found a total of 298 patients (120 cared for by the hematologists and 178 by hospitalists), with a mean age of 32 (range 19-58). Patients cared for by hospitalists had a lower total number of hours on a patient controlled analgesia (PCA) device (171 vs. 212 hours, P=0.11). Hospitalists also were significantly more likely to utilize demand only PCA (42% vs. 23%, P=0.002) and had a significantly lower rate of using both continuous and demand PCA (54% vs. 67%, P=0.04). In addition, patients cared for by hospitalists had a significantly shorter hospitalization (8.4 days) compared to hematologists (10 days, P=0.04) with a non-significant difference in 7 and 30 day readmission rates (7.2% vs. 6.7% and 40% vs. 35% respectively). CONCLUSION:: We found patients cared for by hospitalists more frequently utilized home oral pain medication during admission, had shorter lengths of hospitalization, and did not have a significant increase in readmission rates.
PMID: 23669451 [PubMed - as supplied by publisher]
Related citations
7. Clin Pediatr (Phila). 2013 May 9. [Epub ahead of print]
Incidence of Serious Bacterial Infections in Febrile Children With Sickle Cell Disease.
Bansil NH, Kim TY, Tieu L, Barcega B.
1Loma Linda University, Loma Linda, CA, USA.
Abstract
Objective. To determine the incidence of serious bacterial infections in febrile children with sickle cell disease and to describe the outcomes of children discharged from the pediatric emergency department. Methods. We conducted a retrospective chart review of 188 febrile patients with sickle cell disease presenting to our pediatric emergency department over a 10-year period. Serious bacterial infection was defined as bacteremia, meningitis, urinary tract infection, osteomyelitis, or pneumonia. Results. Our overall incidence rate for serious bacterial infections was 16.0% (95% confidence interval [CI] = 10.8% to 21.2%). Pneumonia had the highest incidence rate of 13.8% (95% CI = 8.8% to 18.8%). This was followed by bacteremia and urinary tract infections, both with incidence rates of 1.1% (95% CI = 0.0% to 2.5%). We had no cases of meningitis or osteomyelitis in our study group. Conclusion. We had an incidence of 16.0% for serious bacterial infections in febrile children with sickle cell disease, with the majority of patients diagnosed with pneumonia.
PMID: 23661790 [PubMed - as supplied by publisher]
Related citations
8. Haematologica. 2013 May 3. [Epub ahead of print]
A randomized, placebo-control trial of arginine therapy for the treatment ofchildren with sickle cell disease hospitalized with vaso-occlusive pain episodes. Morris CR, Kuypers FA, Lavrisha L, Ansari M, Sweeters N, Stewart M, Gildengorin G, Neumayr L,
Sickle Cell News for April 2013
Anti-sickling
therapies should be focus for sickle cell science
http://www.eurekalert.org/pub_releases/2013-04/mcog-ats041713.php
Pain is an undeniable focal point for patients with sickle cell disease but it's not the best focus for drug development, says one of the dying breed of physicians specializing in the condition.
Rather scientists need to get back to the crux of the disease affecting 1 in 500 black Americans and find better ways to prevent the hallmark sickling that impedes red blood cells' oxygen delivery, damaging blood vessel walls and organs along the way, said Dr. Abdullah Kutlar, Director of the Sickle Cell Center at the Medical College of Georgia at Georgia Regents University.
"We have one drug that reduces sickling and we need more," said Kutlar, the 2013 Roland B. Scott, M.D., Lecturer for the 7th Annual Sickle Cell Disease Research and Educational Symposium and National Sickle Cell Disease Scientific Meeting April 14-17 in Miami.
"Pain is very important to someone who is suffering, but by using pain as an end point, we are missing opportunities and wasting drugs that could be very helpful," he said. "Moving forward, I suggest we develop new combination therapies that have anti-sickling capabilities at their center," said Kutlar, noting such cocktail approaches have worked well for cancer and HIV.
Kutlar completed an extensive historical review of patient and study outcomes in preparation for the lecture honoring the late Howard University physician who made it his mission to improve the lives of children with sickle cell disease. Scott's contributions include prompting the National Sickle Cell Control Act of 1972, which established the first federally-funded comprehensive sickle cell centers, including the one at MCG led by Dr. Titus H.J. Huisman. No doubt Scott, Huisman and others have made a tremendous difference to patients, whose average life expectancy has gone from the teens to the 50s in the past 30 years, Kutlar said. Much of that progress grew out of focusing on the basics, including developing hydroxyurea, still the only Food and Drug Administration-approved drug that targets sickling.
Approved 15 years ago, hydroxyurea works by increasing expression of fetal hemoglobin, which can't sickle. However, it's still not widely used – about 35 percent of Kutlar's adult patients take it, for example – probably for a combination of reasons that include a side effect of weight gain and unsubstantiated concerns that it increases cancer risk. He and his colleagues need to do a better job communicating the benefits of this drug in addition to finding new ones, Kutlar said. Reduced sickling means less damage to blood vessels and organs, he said, noting that the major cause of death in adults and children is acute chest syndrome, a severe pneumonia resulting from cumulative lung damage. A handful of new anti-sickling drugs are in various stages of development, including a thalidomide- derivative pioneered by MCG researchers that also enhances fetal hemoglobin expression.
Other good endpoints for drug development include downstream effects of sickling, such as the unnatural adhesion of red blood cells to blood vessel walls, Kutlar said. Unfortunately work was recently halted on a drug that reduced adhesion but not pain, Kutlar said.
Pain needs to be the primary endpoint only for pain medications, he noted. The good news is that many new pain medications are available for these patients, whose pain crises can be severe enough to require hospitalization and whose chronic pain can impair daily living. However, that circles back to the complex causes of pain. The pain initially likely results from tissues crying out for more oxygen and later from nerve and organ damage resulting from ongoing impaired oxygen supplies. Pain control can get even more complex and difficult because regular use of opiates, a common analgesic for sickle cell patients, actually increases pain sensitivity, Kutlar said.
In addition to finding better therapies, physicians who treat sickle cell patients need to help cultivate the next generation of caregivers, Kutlar said. He's in the minority in that he opted to take care of patients with sickle cell disease rather than pursue the more common – and generally more professionally lucrative – hematology path: treating cancer. "We don't have enough hematologists, period," said Kutlar. The problem does have a good cause: the reality that more patients are living longer. However, the number of physicians to treat adult patients is dismal. Helping cultivate the next generation is a focus of a study led by Kutlar and Dr. Robert W. Gibson, a GRU occupational therapist and medical anthropologist. They are reaching out to primary care physicians – who also are in short supply in this country – as a permanent medical home for patients as they reach adulthood. Kutlar and Gibson are co-principal investigators on $7 million, five-year grant from the National Center on Minority Health and Health Disparities of the National Institutes of Health supporting this initiative as well as the search for new drugs and more.
MCG physicians follow about 1,500 adults and children with sickle cell disease. Clinical Research Forum selects sickle cell project among 'Top 10' clinical research achievements of 2012http://www.news-medical.net/news/20130422/Clinical-Research-Forum-selects-sickle-cell-project-among-Top-10-clinical-research-achievements-of-2012.aspx
Pioneering research led by Johns Hopkins scientists on the use of partially matched bone marrow transplants to wipe out sickle cell disease has been selected as one of the Top 10 Clinical Research Achievements of 2012 by the Clinical Research Forum. The success of a preliminary clinical trial of the so-called haploidentical transplants has the potential to bring curative transplants to a majority of sickle cell patients who need them, eliminating painful and debilitating symptoms and the need for a lifetime of pain medications and blood transfusions.
On behalf of the research team, Robert A. Brodsky, M.D., the Johns Hopkins Family Professor of Medicine in Oncologyand director of the Division of Hematology at the Johns Hopkins University School of Medicine, will receive the award and an additional honor, the Distinguished Clinical Research Achievement Award, at a ceremony on April 18 during the Clinical Research Forum annual meeting in Washington, D.C. New Web article Sickle Cell Disease Review
Advances in disease management and new treatment models help patients live longer. 1 contact hour of CEU for nurses: http://nursing.advanceweb.com/Continuing-Education/CE-Articles/Sickle-Cell-Disease.aspx
New Video - Strategies to Improve Implementation of Hydroxyurea
Dr. Courtney Thornburg, Duke Pediatric Sickle Cell Clinic
mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDChydrea313.wmv
SAVE THE DATES
Fellow colleagues, you are invited to participate in the“Public Health Webinar Series on Hemoglobinopathies” Hosted by: The Division of Blood Disorders, CDC 4th Thursday of every month from 2:00PM – 3:00PM EST
5/23: Baby on Board: What You Need to Know about Pregnancy in the Hemoglobinopathies
Dr. Sophie Lanzkron, Sickle Cell Center for Adults at Johns Hopkins Hospital
6/27: Beta-globin Haplotype Analysis in Children with Sickle Cell Anemia
Dr. Christopher Bean, National Center on Birth Defects and Developmental Disabilities, CDC
7/25: Nurses’ Impact on the Stigmatization of Individuals with Sickle Cell: Challenges and Recommendations
Dr. Coretta Jenerette, International Association of Sickle Cell Nurses and Physician Assistants
8/22: Mental Health and Learning Needs in children with Sickle Cell Disease
Dr. Patricia Kavanagh, Boston University School of Medicine/Boston Medical Center
9/26: NHLBI Sickle Cell Disease Guidelines
Dr. Joylene John-Sowah, National Heart Lung and Blood Institute, NIH
10/24: Current Data on Efficacy and Effectiveness of Hydroxyurea in Children with Sickle Cell Disease
Dr. Winfred Wang, St. Jude Children’s Research Hospital
November/December: --- No Webinars---
If you have ideas on topics for future webinars, or have any questions or comments about this series please submit them to Shae Pope spope@cdc.gov . The purpose of this webinar series is to offer a hemoglobinopathies learning collaborative platform for providers, consumers, educators, and scientists. CDC Web based Sickle Cell Resources
CDC’s YouTube Link: http://www.youtube.com/watch?v=gnrvYsZWR1c&list=UUiMg06DjcUk5FRiM3g5sqoQ&index=2&feature=plpp_video CDC Video Archive (http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-health
CDC Sickle Cell Disease Webpage: http://wwwdev.cdc.gov/NCBDDD/sicklecell/video.html
Articles in the Medical Literature for April
1. J Pediatr Hematol Oncol. 2013 Apr 24. [Epub ahead of print]
Cytochrome P450 2D6 Polymorphisms and Predicted Opioid Metabolism in African American Children With Sickle Cell Disease.
Yee MM, Josephson C, Hill CE, Harrington R, Castillejo MI, Ramjit R, Osunkwo I.
*Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta Departments of †Pediatrics, Hematology/Oncology ‡Pathology and Laboratory Medicine, Emory University §Emory University School of Medicine, Atlanta, GA.
Abstract The opioid medications codeine and hydrocodone, commonly prescribed in sickle cell disease (SCD), require metabolic conversion by cytochrome P450 2D6 (CYP2D6) to morphine and hydromorphone, respectively, to exert their analgesic effects. The CYP2D6 gene is highly polymorphic, with variant alleles that result in decreased, absent, or ultrarapid enzyme activity. Seventy-five children with SCD were tested for CYP2D6 polymorphisms, and metabolic phenotypes were inferred from the genotypes. The most common variant alleles were CYP2D6*2 (normal activity, 28.7%), CYP2D6*17 (reduced activity, 17.3%), CYP2D6*5 (gene deletion, 8.7%), and CYP2D6*4 (absent function, 8.0%). Normal/extensive metabolizer genotypes were found in 28/75 (37.5%), intermediate metabolism in 33/75 (44.0%), poor metabolism in 4/75 (5.3%), ultrarapid metabolism in 3/75 (4.0%), indeterminate in 6/75 (8.0%). Allele frequencies did not vary significantly among different hemoglobin genotypes. Identification of variant CYP2D6 genotypes may identify individuals with altered metabolism and therefore altered analgesic response to codeine and hydrocodone, thus providing a personalized medicine approach to treatment of pain in SCD. Further pharmacokinetic and pharmacodynamic studies are needed to define the relationship of CYP2D6 and other gene polymorphisms to individual opioid effect in SCD.
PMID: 23619115 [PubMed - as supplied by publisher]
Related citations
2. J Pediatr Hematol Oncol. 2013 Apr 24. [Epub ahead of print]
Hyperhemolysis in Sickle Cell Disease.
Aragona E, Kelly MJ.
*Division of Hospitalist Medicine, Children's National Medical Center, The George Washington University School of Medicine and Health Sciences, Washington, DC †Division of Pediatric Hematology Oncology, The Floating Hospital for Children at Tufts Medical Center, Tufts University School of Medicine, Boston, MA. Abstract
An 18-year-old female with sickle cell disease presented with thigh pain, dark urine, and hematuria within 72 hours of receiving a blood transfusion. Her clinical picture was consistent with hemolysis. Subsequent laboratory workup, however, demonstrated reticulocytopenia without evidence of an antibody-mediated transfusion reaction. As her hemoglobin continued to decrease, she was treated with IVIG and steroids for presumed hyperhemolysis. Clinicians should have a high index of suspicion for hyperhemolysis in sickle cell patients with evidence of hemolysis after a recent transfusion. Differentiating hyperhemolysis from other hemolytic syndromes is critical; transfusions in a hyperhemolytic episode can accelerate hemolysis causing life-threatening anemia. PMID: 23619113 [PubMed - as supplied by publisher]
Related citations
3. J Pediatr Hematol Oncol. 2013 May;35(4):289-298.
Barriers to Hematopoietic Cell Transplantation Clinical Trial Participation of African American and Black Youth With Sickle Cell Disease and Their Parents. Omondi NA, Ferguson SE, Majhail NS, Denzen EM, Buchanan GR, Haight AE,Labotka RJ, Rizzo JD, Murphy EA.
*National Marrow Donor Program †Center for International Blood and Marrow Transplant Research and University of Minnesota, Minneapolis, MN ‡The University of Texas Southwestern Medical Center, Children's Medical Center, Dallas, TX §Children's Healthcare of Atlanta, Emory University School of Medicine, Atlanta, GA ∥Chicago Sickle Cell Center, University of Illinois, Chicago, IL ¶Center for International Blood and Marrow Transplant Research, Medical College of Wisconsin Clinical Cancer Center, Milwaukee, WI.
Abstract
African Americans and Blacks have low participation rates in clinical trials and reduced access to aggressive medical therapies. Hematopoietic cell transplantation (HCT) is a high-risk but potentially curative therapy for sickle cell disease (SCD), a disorder predominantly seen in African Americans. We conducted focus groups to better understand participation barriers to HCT clinical trials for SCD. Nine focus groups of youth with SCD (n=10) and parents (n=41) were conducted at 3 sites representing the Midwest, South Atlantic, and West South Central US. Main barriers to clinical trial participation included gaps in knowledge about SCD, limited access to SCD/HCT trial information, and mistrust of medical professionals. For education about SCD/HCT trials, participants highly preferred one-on-one interactions with medical professionals and electronic media as a supplement. Providers can engage with sickle cell camps to provide information on SCD/HCT clinical trials to youth and local health fairs for parents/families. Youth reported learning about SCD through computer games; investigators may find this medium useful for clinical trial/HCT education. African Americans affected by SCD face unique barriers to clinical trial participation and have unmet HCT clinical studies education needs. Greater recognition of these barriers will allow targeted interventions in this community to increase their access to HCT. PMID: 23612380 [PubMed - as supplied by publisher]
Related citations
4. J Pediatr Hematol Oncol. 2013 May;35(4):329-30. doi: 10.1097/MPH.0b013e318290c5f3.
Sickle Cell-related Bone Marrow Complications: The Utility of Diffusion-weighted Magnetic Resonance Imaging.
Pratesi A, Medici A, Bresci R, Micheli A, Barni S, Pratesi C.
Misericordia e Dolce Hospital, Prato, Tuscany, Italy.
Abstract
In sickle cell disease diffusion-weighted imaging (DWI) are helpful, costeffective, and promising techniques for differentiating bone marrow involvements. So we suggest to consider a MR diffusion panoramic study (whole-body diffusion MR) when multiple follow-up imaging is required in young patients who are at high risk for chronic radiation damage, so that alternatives to PET study may be taken into consideration.
PMID: 23612384 [PubMed - in process]

Related citations
5. Eur Cytokine Netw. 2013 Apr 19. [Epub ahead of print]
Altered levels of pro-inflammatory cytokines in sickle cell disease patients during vaso-occlusive crises and the steady state condition.
Keikhaei B, Mohseni AR, Norouzirad R, Alinejadi M, Ghanbari S, Shiravi F, Solgi G.
Thalassemia & Hemoglobinopathy research center, Ahvaz Joundishapur University of Medical Science, Ahvaz, Iran. Abstract
Objective: This study aimed to evaluate serum levels of pro-inflammatory cytokines and TGF-β in sickle cell disease (SCD) patients, and to compare the results during vaso-occlusive crisis (VOC) or steady state (StSt) conditions. Methods: 54 SCD patients (37HbSS and 17Sβ+Thal) were enrolled in the study and evaluated in two groups as follows; group A consisted of 39 VOC patients and group B comprised 15 StSt patients. Nineteen healthy volunteers were included as controls. Circulating levels of IL-1, IL-6, IL-8, IL-17,TNF-α and TGF-β were measured using ELISA. Results: Patients in VOC showed higher mean levels of all cytokines than those found in steady-state patients, but this was only marginally significant for IL-8 levels (P = 0.08). Increased levels of TGF-β and IL-17 were found in StSt patients versus normal controls (P = 0.004 and P<0.0001 respectively). A positive correlation was observed between IL-8 and IL-17 in both groups of patients (P = 0.002 and P = 0.005 respectively). Decreased levels of TNF-α, IL-1β and IL-17 were found in hydroxyurea-treated patients. Additionally, significantly higher levels of IL-6 and IL-8 were observed in hydroxyurea-treated and untreated patients than in controls respectively (P = 0.04 and P = 0.01). Conclusions: Our findings indicate that pro-inflammatory cytokines, especially IL-8 and IL-17, could be used as related markers for assessing disease severity, and consequently therapeutic intervention.
PMID: 23608554 [PubMed - as supplied by publisher]<
br /> Related citations
6. Am J Hematol. 2013 Apr 20. doi: 10.1002/ajh.23457. [Epub ahead of print]
Genetic modifiers of sickle cell anemia in the BABY HUG cohort: Influence on laboratory and clinical phenotypes.
Sheehan VA, Luo Z, Flanagan JM, Howard TA, Thompson BW, Wang WC, Kutlar A, Ware RE; BABY HUG Investigators.
Hematology Center, Department of Pediatrics, Baylor College of Medicine, Houston, TX.
Abstract
The recently completed BABY HUG trial investigated the safety and efficacy of hydroxyurea in infants with sickle cell anemia (SCA). To investigate the effects of known genetic modifiers, genomic DNA on 190 randomized subjects was analyzed for alpha thalassemia, beta-globin haplotype, polymorphisms affecting endogenous fetal hemoglobin (HbF) levels (XmnI, BCL11A, and HBS1L-MYB), UGT1A1 promoter polymorphisms, and the common G6PD A- mutation. At study entry, infants with alpha thalassemia trait had significantly lower MCV, total bilirubin, and absolute reticulocyte count. Beta-globin haplotypes associated with milder disease had significantly higher hemoglobin and %HbF. BCL11A and XmnI polymorphisms had significant effects on baseline HbF, while UGT1A1 promoter polymorphisms significantly influenced baseline serum bilirubin. At study exit, subjects randomized to placebo still exhibited laboratory effects of alpha thalassemia and other modifiers, while those assigned hydroxyurea had treatment effects that exceeded most genetic influences. The pain phenotype was influenced by HbF modifiers in both treatment groups. These data document that genetic polymorphisms do modify laboratory and clinical phenotypes even in very young patients with SCA. The hydroxyurea effects are more potent, however, indicating that treatment criteria should not be limited to certain genetic subsets, and supporting the use of hydroxyurea for all young patients with SCA.
Copyright © 2013 Wiley Periodicals, Inc., A Wiley Company.
PMID: 23606168 [PubMed - as supplied by publisher]
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News for March 2013
New Treatment for Sickle Cell Brings Hope and a Cure to Chicago Area Patients
Source Newsroom: University of Illinois at Chicago
Newswise — Two brothers have been cured of their sickle cell disease at the University of Illinois Hospital & Health Sciences System using a relatively uncommon type of stem cell transplant that is performed without chemotherapy.
Their transplants were possible thanks to a third brother who was a match for both, against long odds.
Julius and Desmond Means never imagined life without sickle cell. The brothers, ages 25 and 19, have spent their lives in and out of hospitals, each suffering from different complications of the disease.
Growing up, they tired easily and couldn't keep up with their friends. As they grew older, the disease caused bone damage and affected Julius's lungs. Desmond's organs were also being damaged, and he was jaundiced.
For either young man to receive a transplant, a healthy sibling who is a compatible donor was needed. An acceptable match requires that at least eight of 10 known human leukocyte antigen (H.L.A.) genes be identical between donor and recipient.
Julius and Desmond's healthy older brother Clifford, 27, matched 10 of 10 H.L.A. genes with both of them -- an occurrence of "extremely low" likelihood, according to Dr. Damiano Rondelli, director of stem-cell transplantation at UI Health. The men's mother, Beverly Means, also noted the good fortune. "I had won the lottery of health," she said.
In preparation for the transplant, Clifford was given medication to increase the number of stems cells released from the bone marrow into the bloodstream. His blood was then processed through a machine that collects white cells, including stem cells. The stem cells were frozen until the transplants. Last May, Julius received his transplant at UI Hospital. He was given medication to suppress his immune system and one small dose of total body radiation right before the transplant. Then the frozen bags of stem cells were thawed and hung by IV pole for infusion into him. Then in September, Desmond received his stem cell transplant.
Now several months since the transplants, both Julius and Desmond no longer have sickle cell disease. Their bone marrow is producing healthy red blood cells. "Being cured, I feel like we can do anything," says Julius, who composed a rap about his transplant while recovering in the hospital. The brothers are pursuing their interests in rap music and dance and plan to attend college.
The chemotherapy-free stem cell transplant is a new procedure and is much better-tolerated by patients with aggressive sickle cell disease, who often have underlying organ damage and other complications.
UI Health is the first center in the Chicago area to offer this treatment, and one other patient has been successfully transplanted here. The efficacy and safety of the pre-transplant medication regimen are currently being studied at UI Health.
About 30 adults have received chemotherapy-free stem cell transplants for sickle cell disease at the National Institutes of Health in Bethesda, Md. Approximately 85 percent have been cured.
NSIGHT: Cyclists for sickle cell unite in Dar es Salaam Tanzania
http://thecitizen.co.tz/business/-/29878-insight-cyclists-for-sickle-cell-unite-in-dar-es-salaam
In one of the biggest cycling charity events the city has yet seen, around 400 people, of an astonishing range of ages and physical abilities, donned orange reflector vests emblazoned with ‘Cycle for Sickle Cell’, to join the event to raise funds for a new Sickle Cell Centre at Muhimbili National Hospital, (MNH) and awareness into a disease that is one of the biggest causes of childhood mortality in Tanzania.
Sickle cell disease is an inherited blood disorder that causes significant illness and death and Tanzania’s burden of the disease ranks fourth in the world, with the highest number of SCD births a year (up to 11,000), after Nigeria, India and Democratic Republic of Congo. If untreated, up to 90 per cent of these children will die in childhood. One of the main challenges is that awareness of this inherited disease is considerably low in Tanzania. Many children go undiagnosed and lives are lost. Research scientists, doctors and other healthcare workers are working hard, hand in hand, to change this. The Government of Tanzania has recognized the public health burden of sickle cell disease and dedicated sickle cell services have been provided at Muhimbili National Hospital since the 1980s.
In 2004, a systematic framework for comprehensive healthcare was established at Muhimbili (http://www.muhas.ac.tz and http://www.mnh.or.tz/), which is the main clinical, academic and research centre in the country.
In 2009, the ministry of Health and Social Welfare included sickle cell disease as a priority condition in the national strategy for non-communicable diseases and Tanzania intends to introduce new-born screening and strengthen sickle cell services in health facilities at primary, secondary and tertiary level. In order to develop a platform for advocacy, the Sickle Cell Foundation of Tanzania was launched in 2010. Tanzania has established a biomedical research programme in SCD to find interventions that are locally appropriate and have global significance.
With local and global partnerships, it has developed a systematic framework for comprehensive research with prospective surveillance of over 2,500 SCD patients.
Tech update – Novartis develops two Smartphone apps for Android and iPhone
The Sickle Cell Disease Resource Locator uses your location to connect you with health resources relevant to sickle cell disease and a Sickle Cell Disease Tracker to help with iron overload.
New Video - 2/28: Disparities in Sickle Cell Disease Care: Disentangling the Roles of Race, Place, and Disease State
Dr. Carlton Haywood Jr., Johns Hopkins University
mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDChaywood.wmv
SAVE THE DATES
Fellow colleagues, you are invited to participate in the“Public Health Webinar Series on Hemoglobinopathies” Hosted by: The Division of Blood Disorders, CDC 4th Thursday of every month from 2:00PM – 3:00PM EST
3/28: Strategies to Improve Implementation of Hydroxyurea
Dr. Courtney Thornburg, Duke Pediatric Sickle Cell Clinic
4/25: Building Behavioral and Social Science Databases for the Hemoglobinopathies: Lessons from the Study of Thalassemia
Dr. Robert Yamashita, California State University San Marcos
5/23: Baby on Board: What You Need to Know about Pregnancy in the Hemoglobinopathies
Dr. Sophie Lanzkron, Sickle Cell Center for Adults at Johns Hopkins Hospital
6/27: Beta-globin Haplotype Analysis in Children with Sickle Cell Anemia
Dr. Christopher Bean, National Center on Birth Defects and Developmental Disabilities, CDC
7/25: Nurses’ Impact on the Stigmatization of Individuals with Sickle Cell: Challenges and Recommendations
Dr. Coretta Jenerette, International Association of Sickle Cell Nurses and Physician Assistants
8/22: Mental Health and Learning Needs in children with Sickle Cell Disease
Dr. Patricia Kavanagh, Boston University School of Medicine/Boston Medical Center
9/26: NHLBI Sickle Cell Disease Guidelines
Dr. Joylene John-Sowah, National Heart Lung and Blood Institute, NIH
10/24: Current Data on Efficacy and Effectiveness of Hydroxyurea in Children with Sickle Cell Disease
Dr. Winfred Wang, St. Jude Children’s Research Hospital
November/December: --- No Webinars---
If you have ideas on topics for future webinars, or have any questions or comments about this series please submit them to Shae Pope spope@cdc.gov . The purpose of this webinar series is to offer a hemoglobinopathies learning collaborative platform for providers, consumers, educators, and scientists. CDC Web based Sickle Cell Resources
CDC’s YouTube Link: http://www.youtube.com/watch?v=gnrvYsZWR1c&list=UUiMg06DjcUk5FRiM3g5sqoQ&index=2&feature=plpp_video CDC Video Archive (http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-health
CDC Sickle Cell Disease Webpage: http://wwwdev.cdc.gov/NCBDDD/sicklecell/video.html
Articles in the Medical Literature for March
1. J Pediatr Hematol Oncol. 2013 Apr;35(3):165-9. doi: 10.1097/MPH.0b013e3182847483.
Systematic review of transition from adolescent to adult care in patients with sickle cell disease.
Jordan L, Swerdlow P, Coates TD.
*The Sickle Cell Disease Association of America Inc., Baltimore, MD †Department of Epidemiology and Public Health, University of Miami, Miller School of
Medicine, Miami, FL ‡Barbara Ann Karmanos Cancer Institute, Wayne State University, Detroit, MI §Children's Hospital Los Angeles, Los Angeles, CA
. Abstract Awareness and practice of appropriate treatment for childhood sickle cell disease (SCD) has improved, and survival rates have increased significantly. Today, most patients will eventually require treatment in the adult-care setting. Adolescents who are transferred out from successful pediatric programs face
numerous challenges regarding continuity of care, and mortality rates remain high in this age group. Here, we describe a systematic literature review conducted to examine the barriers to and approaches for successful transition of patients with SCD from adolescent to adult care. Articles were primarily located through the US National Library of Medicine (Pubmed.gov) and were omitted if their principal focus was not SCD transition treatment. A secondary search of 5 additional sources was conducted regarding relevant guidelines or meta-analyses. Current publications describe barriers to continuity of care in this group, proposals for improving the transition process, and contemporary models for SCD care transition. Clinical recommendations include development of a flexible, patient-centric transition plan and education for health care providers.
PMID: 23511487 [PubMed - in process]
Related citations
2. Pediatr Blood Cancer. 2013 Mar 18. doi: 10.1002/pbc.24473. [Epub ahead of print]
Stroke with intracranial stenosis is associated with increased platelet activation in sickle cell anemia.
Majumdar S, Webb S, Norcross E, Mannam V, Ahmad N, Lirette S, Iyer R.
Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi. smajumdar@umc.edu.
Abstract
BACKGROUND:
Overt stroke in sickle cell anemia (SCA) is associated with intracranial stenosis and thrombus formation. Platelet activation is critical for thrombus formation.
PROCEDURE:
Platelet activation studies were performed in 50 subjects: 18 SCA patients with history of stroke or abnormal transcranial Doppler (TCD) and intracranial stenosis seen by magnetic resonance angiogram (MRA), 7 SCA patients with history of stroke or abnormal TCD but no intracranial stenosis, 13 SCA patients with no history of stroke or abnormal TCD, and 12 healthy African-Americans.
RESULTS:
Of the 18 patients with intracranial stenosis, 11 (61%) had evidence of the moyo-moya phenomenon on MRA. SCA children with intracranial stenosis had a significantly greater total white cell count compared to both healthy African-American controls and SCA patients in the steady-state (P < 0.001). In addition, SCA patients with history of stroke or abnormal TCD had a significantly higher platelet count compared to healthy African-American controls (P < 0.002). The percentage of platelet surface P-selectin expression was significantly greater in patients with intracranial stenosis compared to the other groups (P < 0.05), particularly in individuals that did not have the moya-moya phenomenon seen on MRA.
CONCLUSION:
Stroke with intracranial stenosis is associated with increased platelet activation in sickle cell anemia, and further investigation is needed on the role of anti-platelet agents in this high-risk population. Pediatr Blood Cancer © 2013 Wiley Periodicals, Inc. Copyright © 2013 Wiley Periodicals, Inc.
PMID: 23509099 [PubMed - as supplied by publisher]
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3. Pediatr Blood Cancer. 2013 Mar 18. doi: 10.1002/pbc.24530. [Epub ahead of print]
Alloimmunization in Sickle Cell Anemia in the Era of Extended Red Cell Typing.
O'Suoji C, Liem RI, Mack AK, Kingsberry P, Ramsey G, Thompson AA.
Division of Hematology, Oncology and Stem Cell Transplant, Ann and Robert H. Lurie Children's Hospital of Chicago, Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Abstract
BACKGROUND:
Red blood cell (RBC) transfusion remains an essential part of the management of patients with sickle cell disease (SCD). Alloimmunization is a major complication of transfusions. Extended RBC typing is advocated as a means to reduce alloimmunization in SCD. Our goal was to assess alloimmunization among individuals with SCD at our center since implementing extended RBC typing.
MATERIALS AND METHODS:
We reviewed electronic medical records of all patients with SCD (N = 641) in our comprehensive SCD Program to determine transfusion histories. Cross-referencing with our blood bank database, we extracted data such as antibodies identified, detection date and genotyping in specific cases. Transfusion sources were determined for those with C, E, and Kell antibodies.
RESULTS:
Of 180 patients transfused from 2002 to 2011, 26 developed at least one new antibody. The majority of alloimmunized patients (14/26) received episodic transfusions only. The most common antibodies formed were against C and E antigens. Of the 16 patients who developed C, E, Kell antibodies, nine had one or more documented transfusions at an outside hospital. Five patients had Rh variants undetectable on routine phenotyping including two novel e alleles related to ceAR and ceS (733G).
CONCLUSION:
Despite extended RBC typing, alloimmunization may still occur due to RBC variants that are not detected on routine screening and transfusions at institutions where extended RBC typing is not done. Extended RBC typing should be the standard of care for patients with SCD. Prospective genotyping may reduce allosensitization to rare variants not detected on routine screening. Pediatr Blood Cancer 2013;9999:XX-XX. © 2013 Wiley Periodicals, Inc. Copyright © 2013 Wiley Periodicals, Inc.
PMID: 23508932 [PubMed - as supplied by publisher]
Related citations
4. Eur J Haematol. 2013 Mar 14. doi: 10.1111/ejh.12103. [Epub ahead of print]
Optimizing Hydroxyurea Use In Children With Sickle Cell Disease: Low Regimen Dose Is Effective.
Sharef SW, Al-Hajri M, Beshlawi I, Al-Shahrabally A, Elshinawy M, Zachariah M,Mevada ST, Bashir W, Rawas A, Taqi A, Al-Lamki Z, Wali Y.
Departments of Child Health, Sultan Qaboos University Hospital, Oman.
Abstract
BACKGROUND AND OBJECTIVES:
Hydroxyurea (HU) is the standard treatment for severely affected children with sickle cell disease (SCD). Starting dose is 15-20 mg/kg/day that can be escalated up to 35 mg/kg/day. Ethnic neutropenia is common in this area of the world that requires judicious usage of myelosuppressive drugs. Aim was to assess the efficacy of a lower initial dose of HU and cautious dose escalation regimen in patients with SCD.
METHODS:
We assessed 161 patients with SCD on HU, at Sultan Qaboos University Hospital (SQUH), Muscat, Oman, retrospectively from 1998-2008 and prospectively from 2009-2011. Starting dose of HU was 10-12 mg/kg/day, adjusted based on response or side-effects. Patients were divided into two groups according to the dose of HU (10-15.9 mg/kg/day, and 16-26 mg/kg/day).
RESULTS:
Nineteen patients were excluded for various reasons. Forty four children were in the low dose group, and 98 were in the high dose group. There was significant reduction in the annual number of admissions due to vaso-occlusive crisis in both groups (P <0.001). However, the difference between the two groups was statistically insignificant (P > 0.05). In addition, there was an observed clinical improvement regarding the acute chest syndrome (ACS). Both groups had comparable significant improvements in their laboratory markers (e.g.; Hb, MCV, and ANC). All 142 patients tolerated the treatment well. Reversible toxicities occurred in both low and high dose groups.
CONCLUSION:
In SCD patients, low dose regimen of HU is a feasible option that ensured safety and yet did not affect efficacy. © 2013 John Wiley & Sons A/S. © 2013 John Wiley & Sons A/S.
PMID: 23489171 [PubMed - as supplied by publisher]
Related citations
5. Platelets. 2013 Mar 7. [Epub ahead of print]
Platelet Activation and Inhibition iN Sickle cell disease (PAINS) study.
Frelinger AL 3rd, Jakubowski JA, Brooks JK, Carmichael SL, Berny-Lang MA, Barnard MR, Heeney MM, Michelson AD.
Center for Platelet Research Studies, Division of Hematology/Oncology, Boston Children's Hospital, Dana-Farber Cancer Institute, Harvard Medical School , Boston, MA , USA.
Abstract
Platelet activation/aggregation in sickle cell disease (SCD) may promote tissue ischemia, suggesting that antiplatelet therapy may be useful. However, the assessment of platelet function and the effect of antiplatelet therapy in blood from SCD patients may be confounded by hemolysis with the release of adenosine 5'-diphosphate (ADP). Here we evaluate the levels of platelet activation markers in SCD adolescents vs. normal controls and compare, by multiple methods, the effect of in vitro blockade of the platelet ADP receptor P2Y12 by prasugrel's active metabolite, R-138727. Platelet activation markers in blood from SCD adolescents (n = 15) and healthy adults (n = 10), and the effect of R-138727 (0.1-10 µM) added in vitro, were evaluated with and without ADP stimulation. The circulating levels of platelet-monocyte and platelet-neutrophil aggregates were significantly higher (p < 0.01) in SCD patients than in healthy controls. R-138727, in a concentration-dependent manner, inhibited platelet function in both SCD patients and healthy subjects as judged by ADP-stimulated light transmission aggregation, VerifyNow® P2Y12 assay, multiple electrode aggregometry, and flow cytometric analysis of platelet vasodilator-stimulated phosphoprotein, activated GPIIb-IIIa and P-selectin. The R-138727 IC50s for each assay were not significantly different in SCD vs. healthy subjects. In summary: (1) The high circulating levels of platelet-monocyte and platelet-neutrophil aggregates demonstrate in vivo platelet activation in SCD and may be useful as markers of the in vivo pharmacodynamic efficacy of antiplatelet therapy in SCD. (2) The similar in vitro R-138727 IC50s in SCD and healthy subjects suggest that the prasugrel dose-dependence for platelet inhibition in SCD patients will be similar to that previously observed in healthy subjects. PMID: 23469943 [PubMed - as supplied by publisher]
Related citations
6. Pediatrics. 2013 Mar 4. [Epub ahead of print]
Weight Status of Children With Sickle Cell Disease.
Chawla A, Sprinz PG, Welch J, Heeney M, Usmani N, Pashankar F, Kavanagh P.
Hasbro Children's Hospital, Providence, Rhode Island;
Abstract
OBJECTIVE:Historically, many children and adolescents with sickle cell disease (SCD) were underweight. Treatment advances like hydroxyurea have been associated with improved growth. We hypothesized that increased hemoglobin (Hb) levels would be associated with increased weight status of children with SCD.METHODS:Investigators at 6 institutions conducted a retrospective chart review of all patients aged 2 to 19 years of age for the calendar years 2007-2009. Height, weight, baseline Hb levels, demographic information, and select comorbidities were recorded from the most recent clinic visit. Overweight and obesity were defined as ≥85th and ≥95th BMI percentiles for age and gender, respectively, and underweight was defined as <5th BMI percentile.RESULTS:Data were collected on 675 children and adolescents in 3 New England states. In this sample, 22.4% were overweight or obese, whereas only 6.7% were underweight. Overweight or obese status was associated with sickle genotypes other than Hb SS or Hb Sβ0 disease, and were associated with higher baseline Hb levels. Underweight individuals were more likely to be male, older, and have had at least 1 SCD-related complication. After adjusting for demographic factors, any SCD-related complication, SCD-directed treatments, and obesity-related conditions, there was a 36% increased odds of overweight/obesity for each 1 g/dL increase in baseline Hb levels.CONCLUSIONS:Nearly one-quarter of children and adolescents with SCD in New England are overweight or obese. Longitudinal studies are needed to determine the impact of elevated BMI on the morbidity and mortality of both children and adults with SCD.
PMID: 23460681 [PubMed - as supplied by publisher]
Related citations
7. Pain Res Manag. 2013 Jan-Feb;18(1):33-8.
Daily changes in pain, mood and physical function in children hospitalized for sickle cell disease pain.
Zempsky WT, Palermo TM, Corsi JM, Lewandowski AS, Zhou C, Casella JF.
Connecticut Children's Medical Center, Hartford, Connecticut 06106, USA.wzempsk@ccmckids.org
Abstract
BACKGROUND:
Youth with sickle cell disease (SCD) are commonly hospitalized for treatment of painful vaso-occlusive episodes (VOE). However, limited data are available concerning the course of hospitalization for these children and adolescents and, in particular, whether daily changes occur in pain, emotional status and physical function.
OBJECTIVES:
To characterize changes in daily pain intensity, physical function and mood over the course of hospitalization, and to determine whether specific clinical characteristics were associated with these changes.
METHODS:
Daily ratings of pain (0 to 10 numerical rating scale) and mood (Positive and Negative Affect Scale for Children) were completed by 25 youth (11 to 20 years of age) with SCD over a total of 152 days (mean [± SD] = 6.7±5.6 days) of hospitalization. Trained raters determined each youth's daily physical function.
RESULTS:
Sickle Cell News for February 2013
Could an old antidepressant treat sickle cell disease?
Tests in mice & human blood cells look promisinghttp://www.eurekalert.org/pub_releases/2013-02/uomh-cao021913.php
An antidepressant drug used since the 1960s may also hold promise for treating sickle cell disease, according to a surprising new finding made in mice and human red blood cells by a team from the University of Michigan Medical School.
The discovery that tranylcypromine, or TCP, can essentially reverse the effects of sickle cell disease was made by U-M scientists who have spent more than three decades studying the basic biology of the condition, with funding from the National Institutes of Health.
Their findings, published in Nature Medicine, pave the way for a clinical trial now being planned for adult patients who have the life-threatening condition. The discovery may also lead to other treatments for the disease, which leads misshapen red blood cells to cause vascular damage and premature death. But the researchers caution it is too soon for the drug to be used in routine treatment of sickle cell anemia, an inherited genetic disease that affects tens of thousands of Americans and millions of others worldwide.
The climax of a decade of discovery
In the new paper, the researchers describe a painstaking effort to test TCP's effect on the body's production of a particular form of hemoglobin – the key protein that allows red blood cells to carry oxygen.
The drug acts on a molecule inside red blood cells called LSD1, which is involved in blocking the production of the fetal form of hemoglobin. The U-M team zeroed in on the importance of LSD1 as a drug target after many years of research.
Then, they literally did a Google search to find drugs that act on LSD1. That's how they found TCP, which since 1960 has been used to treat severe depression. In the new paper, they describe how TCP blocked LSD1 and boosted the production of fetal hemoglobin -- offsetting the devastating impact of the abnormal "adult" form of hemoglobin that sickle cell patients make.
"This is the first time that fetal hemoglobin synthesis was re-activated both in human blood cells and in mice to such a high level using a drug, and it demonstrates that once you understand the basic biological mechanism underlying a disease, you can develop drugs to treat it," says Doug Engel, Ph.D., senior author of the study and chair of U-M's Department of Cell & Developmental Biology. "This grew out of an effort to discover the details of how hemoglobin is made during development, not with an immediate focus on curing sickle cell anemia, but just toward understanding it."
Engel credits the dedication and persistence of his team, including a former research assistant professor, Osamu Tanabe, M.D., Ph.D., now at Japan's Tohoku University, U-M postdoctoral fellow, Lihong Shi, Ph.D., first author of the study, and research instructor Shuaiying Cui, Ph.D..
Together, they have identified LSD1's crucial role, and its epigenetic interaction with two nuclear receptors in the nuclei of red blood cell precursors called TR2 and TR4. Working in tandem, they repress the expression of the gene that makes fetal hemoglobin – an effect called gene silencing. So, interfering with this repression allows the fetal hemoglobin subunits to be made.
Treatment with TCP caused fetal hemoglobin to be produced at such high abundance that it made up 30 percent of all hemoglobin in cultured human blood cells – a finding Engel called "startling." TCP is FDA-approved, though patients taking it need to follow strict dietary guidelines to avoid drug interactions with certain naturally occurring chemicals in some foods.
Reference: Nature Medicine, http://dx.doi.org/10.1038/nm.3101
NFL Twins to Tackle Sickle Cell Disease
http://newbrunswick.patch.com/articles/nfl-twins-to-tackle-sickle-cell-disease
NFL defensive backs and twin brothers Jason McCourty of the Tennessee Titans and Devin McCourty of the New England Patriots will visit Robert Wood Johnson University Hospital on Saturday, Feb. 23 for a campaign against sickle cell disease.
The McCourtys, along with the Embrace Kids Foundation, Robert Wood Johnson University Hospital, and the New York Blood Center are working together on the “Tackle Sickle Cell” campaign, which intends to educate and raise monetary and blood donors to fight against the disease.
Anyone who registers through TackleSickleCell.org and donates will receive a $10 restaurant gift card, and will be entered in a drawing for a signed football helmet and a $100 restaurant gift card, according to the hospital.
For more information, visit TackleSickleCell.org or Facebook.com/TackleSickleCell.
Treatment of sickle cell disease largely involves long-term disease management.
http://myfox8.com/2013/02/22/house-call-sickle-cell-disease-adult-disease-management/
Proper lifestyle modifications are essential to avoiding sickle cell disease-related symptomatic episodes and health conditions, which involve maintaining a well-balanced diet, avoiding smoking and alcohol consumption, limiting caffeine intake, and staying hydrated. Long-term sickle cell disease management also involves proper dental, foot, eye and skin/wound care.
Sickle news from Tanzania. Sickle Cell Disease: What can Africa contribute? 13 February 2013.
http://videocast.nih.gov/Summary.asp?File=17804&bhcp=1 part of NIH Wednesday Afternoon Lecture Series. http://wals.od.nih.gov/
Improving Sickle Cell Disease Care Beyond the Clinic
From text reminders to self-monitoring pill bottles, healthcare providers in the Working to Improve Sickle Cell Healthcare (WISCH) project using technology to improve care for patients with sickle cell disease when they leave the doctor’s office.
http://www.nichq.org/resources/SickleCellTech-Feb2013.html
Books
Telfair, J. and Crosby, L. (2013) Disparities in the delivery of health care and pain management for persons with sickle cell disease. In Incayawar, M and Todd, K (EDs) CULTURE, BRAIN AND ANALGESIA: Understanding and Managing Pain in Diverse Populations New York, NY: Oxford University Press (Chapter 17), 198-204.
Sickle Cell Art
by Hertz Nazaire
World famous sickle cell artist Hertz Nazaire is selling his art to raise sickle cell awareness. Much of his work goes unpaid, but he needs support also: “I don't mind not getting paid for my work as long as it helps others understand our pain but I don't think the community knows how hard my life has been while these images have been on slides and spread out all over the world.”
“I only sold 20 items in 6 years online mostly the postage stamps that canvas is new, just created this week. I turn 40 years old this year my pain is still very annoying but I am glad that my art has been loved by so many. Thank You for your support”
His latest work, avery large wrapped canvas print ready to hang for an office is available at: http://www.zazzle.com
/need_not_suffer_alone_sickle_cell_art_canvas_g-192431769758790410?gl=nazaire&rf=238198779154864644
Hertz online store address is http://www.zazzle.com/nazaire
Happy birthday Hertz and many more
Video Resources
# 505 LIVING WITH ILLNESS ( with Discussion Guide)
In the Mix is the Emmy award winning PBS series for young adults. One program addresses sickle cell anemia and is available as an educational DVD. A special discount of $20 off the usual $70 can be received by using the code 20Off and listing that on the P.O. For more information and a transcript, visit www.inthemix.org
This program addresses the most critical issues and problems concerning school, friends and family that challenge young people who are coping with serious and/or chronic conditions. Teens speak frankly from their experiences, sharing their concerns and advice with insight and humor. A boy describes his ways of dealing with Crohn’s; a girl copes with Juvenile Diabetes; and several teens who are living with sickle cell anemia describe their conditions and dispel misconceptions. They all stress that they want to be treated as normal teenagers.Young Adult Library Services Association “Selected Videos” list. Winner of the CINE Golden Eagle Award
“The well-spoken adolescents, who represent a variety of backgrounds, openly share their experiences and discuss the impact of their afflictions on their lives. Including information on treatments and side effects, this video takes an honest and insightful look at a topic not often discussed among teens.” – Booklist New video posted - Managing and Monitoring Transfusional Iron Overload
by Dr. Thomas Coates on 1/25/13
mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDCironCoates.wmv
SAVE THE DATES
Fellow colleagues, you are invited to participate in the“Public Health Webinar Series on Hemoglobinopathies” Hosted by: The Division of Blood Disorders, CDC 4th Thursday of every month from 2:00PM – 3:00PM EST
2/28: Disparities in Sickle Cell Disease Care: Disentangling the Roles of Race, Place, and Disease State
Dr. Carlton Haywood Jr., Johns Hopkins University
3/28: Strategies to Improve Implementation of Hydroxyurea
Dr. Courtney Thornburg, Duke Pediatric Sickle Cell Clinic
4/25: Building Behavioral and Social Science Databases for the Hemoglobinopathies: Lessons from the Study of Thalassemia
Dr. Robert Yamashita, California State University San Marcos
5/23: Baby on Board: What You Need to Know about Pregnancy in the Hemoglobinopathies
Dr. Sophie Lanzkron, Sickle Cell Center for Adults at Johns Hopkins Hospital
6/27: Beta-globin Haplotype Analysis in Children with Sickle Cell Anemia
Dr. Christopher Bean, National Center on Birth Defects and Developmental Disabilities, CDC
7/25: Nurses’ Impact on the Stigmatization of Individuals with Sickle Cell: Challenges and Recommendations
Dr. Coretta Jenerette, International Association of Sickle Cell Nurses and Physician Assistants
8/22: Mental Health and Learning Needs in children with Sickle Cell Disease
Dr. Patricia Kavanagh, Boston University School of Medicine/Boston Medical Center
9/26: NHLBI Sickle Cell Disease Guidelines
Dr. Joylene John-Sowah, National Heart Lung and Blood Institute, NIH
10/24: Current Data on Efficacy and Effectiveness of Hydroxyurea in Children with Sickle Cell Disease
Dr. Winfred Wang, St. Jude Children’s Research Hospital
November/December: --- No Webinars---
If you have ideas on topics for future webinars, or have any questions or comments about this series please submit them to Shae Pope spope@cdc.gov . The purpose of this webinar series is to offer a hemoglobinopathies learning collaborative platform for providers, consumers, educators, and scientists. CDC Web based Sickle Cell Resources
CDC’s YouTube Link: http://www.youtube.com/watch?v=gnrvYsZWR1c&list=UUiMg06DjcUk5FRiM3g5sqoQ&index=2&feature=plpp_video CDC Video Archive (http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-health CDC Sickle Cell Disease Webpage:http://wwwdev.cdc.gov/NCBDDD/sicklecell/video.html
Articles in the Medical Literature for January
1. Lab Chip. 2013 Feb 22. [Epub ahead of print]
A simple, rapid, low-cost diagnostic test for sickle cell disease.
Yang X, Kanter J, Piety NZ, Benton MS, Vignes SM, Shevkoplyas SS.

Department of Biomedical Engineering, Tulane University, New Orleans, LA 70118. shevkop@tulane.edu.
Abstract
This communication describes a very simple, rapid and inexpensive point-of-care diagnostic test for sickle cell disease (SCD) that can conclusively differentiate between blood samples from normal healthy individuals, sickle cell trait carriers and SCD patients using the characteristic blood stain patterns produced by each sample on paper.
PMID: 23429713 [PubMed - as supplied by publisher]
2. Pediatr Neurol. 2013 Mar;48(3):188-99. doi: 10.1016/j.pediatrneurol.2012.12.004.
Cerebral blood flow abnormalities in children with sickle cell disease: a systematic review.
Behpour AM, Shah PS, Mikulis DJ, Kassner A.
Department of Diagnostic Imaging, Hospital for Sick Children, Toronto, Ontario, Canada; Department of Medical Imaging, University of Toronto, Toronto, Ontario, Canada.
Abstract
A systematic review was performed to assess whether cerebral blood flow with different imaging modalities could identify brain abnormalities in children with sickle cell disease where structural magnetic resonance imaging and transcranial Doppler velocity appeared normal. A total of 11 studies were identified which reported cerebral blood flow abnormalities alongside structural magnetic resonance imaging or transcranial Doppler velocity abnormalities in patients with sickle cell disease. Potential for bias was assessed with the quality assessment of diagnostic accuracy studies scale in addition to treatment bias. Subjects of each study were categorized into patients with and without stroke. The prevalence of abnormalities for each modality was then separately calculated in each group. The included studies had mostly moderate degrees of bias. The prevalence of blood flow abnormalities compared with structural magnetic resonance imaging abnormalities was equal to or lower in patients with stroke and equal to or greater in patients without stroke. Blood flow abnormalities were more prevalent than transcranial Doppler abnormalities in four studies of patients without stroke and in one study of patients with stroke. The studies suggest that the assessment of cerebral blood flow in sickle cell disease can be of potential value in addressing brain abnormalities at the tissue level; however, further studies are warranted.
Copyright © 2013 Elsevier Inc. All rights reserved.
PMID: 23419469 [PubMed - in process]
3. Pediatr Blood Cancer. 2013 Feb 15. doi: 10.1002/pbc.24486. [Epub ahead of print]
Exploring barriers and facilitators to clinical trial enrollment in the context of sickle cell anemia and hydroxyurea.
Lebensburger JD, Sidonio RF, Debaun MR, Safford MM, Howard TH, Scarinci IC.
Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama. jlebensburger@peds.uab.edu.
Abstract
BACKGROUND:
Several sickle cell clinical trials have closed due to inability to enroll patients. To limit the early cessation of a proposed clinical trial due to low accrual rates, we sought to better understand barriers and facilitators to enrolling parents of children with sickle cell anemia (SCD) into clinical trials.
PROCEDURE:
Focus groups (n = 3) were conducted with parents/guardians (n = 14) who had not previously been recruited for a clinical trial and were not administering hydroxyurea to their children.
RESULTS:
Three main themes related to barriers to clinical trial enrollment were identified during analysis of focus groups: general barriers to health related research (general mistrust of research studies, emotional and practical concerns), barriers to trial design (randomization), and barriers to hydroxyurea (long term unknown risks, cancer, myelosuppressive effects). Facilitators identified were need for more education, including request for peer education, and improved explanation of clinical trials or study rationale.
CONCLUSION: Engagement of parents/guardians of children with SCD in identifying barriers and facilitators to clinical trial enrollment may be critical to the development of strategies to enhance SCD trial completion. Pediatr Blood Cancer © 2013 Wiley Periodicals, Inc. Copyright © 2013 Wiley Periodicals, Inc.
PMID: 23418000 [PubMed - as supplied by publisher]
4.
Biol Blood Marrow Transplant. 2013 Feb 14. pii: S1083-8791(13)00082-7. doi: 10.1016/j.bbmt.2013.02.010. [Epub ahead of print] Long Term Outcome and Evaluation of Organ Function in Pediatric Patients Undergoing Haploidentical and Matched Related Hematopoietic Cell Transplantation for Sickle Cell Disease.
Dallas M, Triplett B, Shook D, Hartford C, Srinivasan A, Laver J,Ware R, Leung W.

Departmentof BoneMarrowTransplantationand CellularTherapy,St. JudeChildren's Research Hospital; Departmentof Pediatrics,Universityof TennesseeHealthScienceCenter, College of Medicine, Memphis, Tennessee. Electronic address: mari.dallas@stjude.org. Abstract

Human leukocyte antigen (HLA) matched related donor (MRD) hematopoietic stem cell transplant (HSCT) for patients with sickle cell disease (SCD) has been well established, however experience using alternative donors, including haploidentical donors for treatment of SCD is limited. We report the long-term outcome of 22 pediatric patients who underwent a related donor HSCT for SCD at St. Jude Children's Research Hospital. Patients received a myeloablative MRD from a sibling (14) or reduced intensity parental haploidentical (8) HSCT. The medianageforthe patients who underwent a MRD and haploidentical donor HSCT were11.0±3.9 yrs. and9.0±5.0 yrs., respectively. The median time to follow up for the MRD cohort was 9.0 ± 2.3 yrs. withan overallsurvival (OS) of93%andrecurrence/graftfailureof0%. The median follow up for the haploidentical donor cohort was 7.4 ± 2.4 years with an OSof75%, disease free survival of 38%anddisease recurrence of 38%. We report the long-term hematological response and organ function in patients undergoing a MRD and haploidentical donor HSCT for severe SCD. Our data demonstrate long-term hematologic improvements after HSCT for our patients with sustained engraftment. In summary, our dataconfirmsthatHSCT offerslong--termprotectionfromcomplicationsthat commonlydevelopinpatientswithSCDsuchasstroke,pulmonaryhypertension, acutechest and nephropathy, regardless of donor source.
Copyright © 2013 American Society for Blood and Marrow Transplantation. Published by Elsevier Inc. All rights reserved.
PMID: 23416852 [PubMed - as supplied by publisher]
5. J Hematol Oncol. 2013 Feb 17;6(1):17. [Epub ahead of print]
A double-blind, randomized, multicenter phase 2 study of prasugrel versus placebo in adult patients with sickle cell disease.
Wun T, Soulieres D, Frelinger AL, Krishnamurti L, Novelli EM,Kutlar A, Ataga KI, Knupp CL, McMahon LE, Strouse JJ, Zhou C,Heath LE, Nwachuku CE, Jakubowski JA, Riesmeyer JS, Winters KJ.
Abstract
ABSTRACT:
BACKGROUND: Platelet activation has been implicated in the pathogenesis of sickle cell disease (SCD) suggesting antiplatelet agents may be therapeutic. To evaluate the safety of prasugrel, a thienopyridine antiplatelet agent, in adult patients with SCD, we conducted a double-blind, randomized, placebo-controlled study.
METHODS:
The primary endpoint, safety, was measured by hemorrhagic events requiring medical intervention. Patients were randomized to prasugrel 5 mg daily (n = 41) or placebo (n = 21) for 30 days. Platelet function by VerifyNow(R) P2Y12 and vasodilator-stimulated phosphoprotein assays at days 10 and 30 were significantly inhibited in prasugrel- compared with placebo-treated SCD patients.
RESULTS:
There were no hemorrhagic events requiring medical intervention in either study arm. Mean pain rate (percentage of days with pain) and intensity in the prasugrel arm were decreased compared with placebo. However, these decreases did not reach statistical significance. Platelet surface P-selectin and plasma soluble P-selectin, biomarkers of in vivo platelet activation, were significantly reduced in SCD patients receiving prasugrel compared with placebo. In sum, prasugrel was well tolerated and not associated with serious hemorrhagic events.
CONCLUSIONS:
Despite the small size and short duration of this study, there was a decrease in platelet activation biomarkers and a trend toward decreased pain. Free Article
PMID: 23414938 [PubMed - as supplied by publisher]
6.
J Health Psychol. 2013 Feb 13. [Epub ahead of print]
Psychological aspects and hospitalization for pain crises.
Tsao J, Jacob E, Seidman L, Lewis MA, Zeltzer L.
University of California, Los Angeles, USA.
Abstract
Sickle-cell disease is a genetic disorder characterized by severe pain episodes or "vaso-occlusive crises" that may require hospitalization. This study examined the associations among emotion regulation, somatization, positive and negative affect, and hospitalizations for pain crises in youth with sickle-cell disease. Multivariate analyses indicated that emotional suppression and somatization were significantly associated with more frequent hospitalizations for pain crises in the previous year after controlling for sickle-cell disease type and pain. These results suggest that efforts to reduce emotional suppression and somatization may assist in decreasing the frequency of hospitalizations for pain crises among youth with sickle-cell disease.
PMID: 23407129 [PubMed - as supplied by publisher]

Related citations
7. Am J Emerg Med. 2013 Feb 1. pii: S0735-6757(12)00568-2. doi: 10.1016/j.ajem.2012.11.005. [Epub ahead of print]
The impact of race and disease on sickle cell patient wait times in the emergency department.
Haywood C Jr, Tanabe P, Naik R, Beach MC, Lanzkron S.
Department of Medicine, Division of Hematology, The Johns Hopkins School of Medicine, Baltimore, MD 21205, USA; The Johns Hopkins Berman Institute of Bioethics, Baltimore, MD 21205, USA. Electronic address: chaywoodjr@jhu.edu.
Abstract
STUDY OBJECTIVE:
To determine whether patients with sickle cell disease (SCD) experience longer wait times to see a physician after arrival to an emergency department (ED) compared to patients with long bone fracture and patients presenting with all other possible conditions (General Patient Sample), and to attempt to disentangle the effects of race and disease status on any observed differences.
METHODS:
A cross-sectional, comparative analysis of year 2003 through 2008 data from the National Hospital Ambulatory Medical Care Survey, a nationally representative sample of nonfederal emergency department visits in the United States. Our primary outcome was wait time (in minutes) to see a physician after arrival to an ED. A generalized linear model was used to examine ratios of wait times comparing SCD visits to the two comparison groups.
RESULTS:
SCD patients experienced wait times 25% longer than the General Patient Sample, though this difference was explained by the African-American race of the SCD patients. SCD patients waited 50% longer than did patients with long bone fracture even after accounting for race and assigned triage priority.
CONCLUSIONS:
Patients with SCD presenting to an ED for care experience longer wait times than other groups, even after accounting for assigned triage level. The African-American race of the SCD patients, and their status as having SCD itself, both appear to contribute to longer wait times for these pati Sickle Cell News for January 2013
Sickle Cell Test Gets NCAA OK Despite Docs
The National Collegiate Athletic Association (NCAA) has approved mandatory confirmation of sickle cell trait status in Division III student athletes, despite the objections of the American Society of Hematology (ASH).
NCAA delegates voted 254 to 200 in favor of the measure at the 2013 NCAA convention over the weekend. Confirmation of sickle cell status will be required of all incoming student athletes in the 2013-2014 school year and for all athletes by 2014-2015. Mandatory sickle cell screening is already required by the NCAA in Division I and Division II athletes.
Last year, ASH challenged the NCAA, declaring that athletes need not be tested for or disclose sickle cell trait status before participating in sporting events. In a statement released over the weekend, ASH said the "NCAA policy is medically groundless – perhaps even dangerous – and is focused more on protecting the NCAA from legal liability than protecting the health of student athletes." http://www.medpagetoday.com/Orthopedics/SportsMedicine/36947 also see http://www.ncaa.org/wps/wcm/connect/public/NCAA/Health+and+Safety/Sickle+Cell/Sickle+Cell+Landing+Page
Fighting Painful Misconceptions About Sickle Cell Disease In The ER
When sickle cell patients arrive at emergency rooms, they often have great difficulty getting the treatment they need. Paula Tanabe, an associate professor at the Duke University School of Nursing, is making it her mission to change that.
http://www.kaiserhealthnews.org/Stories/2013/January/24/sickle-cell-misconceptions-and-the-ER.aspx
Bahrain to Host International Conference on Sickle Cell Disease, Management and Prevention http://www.bna.bh/portal/en/news/542546
Bahrain is hoping to benefit from international experience when it hosts a global conference about sickle cell disease. Hundreds of patients and doctors are expected to attend the event, taking place at the Ritz-Carlton Bahrain, Hotel and Spa from February 5 to 7. The International Conference on Sickle Cell Disease, Management and Prevention is being organised by the Health Ministry and held under the patronage of His Royal Highness Prime Minister Prince Khalifa bin Salman Al Khalifa.
"Prominent speakers from around the world, the Middle East and GCC as well as from Bahrain have already confirmed their participation," said National Committee to Combat Genetic Diseases and students screening programme head Dr Shaikha Al Arrayed.
"The conference will also provide an interactive forum for participants to discuss important and emerging health issues," she said. "The event will be an opportunity to strengthen communication and networking and to share best practices and improve the health of blood disorder populations."This is the time to unite to fight these diseases and protect the new generation." Dr Al Arrayed said emerging health issues, protocols for pain management, prevention and treatment of opiate addiction, avoidance of causes of death in patients and avoidance of complications such as acute chest syndrome, stroke, renal failure and vascular necrosis would be discussed at the event. Participants will also learn about alternative forms of treatment. Sickle Cells Show Potential to Attack Aggressive Cancer Tumors
Reporting in the Jan. 9, 2013, edition of the on-line journal PLOS ONE, the researchers describe a process of exploiting sickle-shaped red blood cells to selectively target oxygen deprived cancer tumors in mice and block the blood vessels that surround them.
"Sickle cells appear to be a potent way to attack hypoxic (oxygen-starved) solid tumors, which are notable for their resistance to existing cancer chemotherapy agents and radiation," said senior author Mark W. Dewhirst, DVM, PhD, a radiation oncologist and director of Duke's Tumor Microcirculation Laboratory. "This is an exciting finding that suggests a potential new approach to fighting tumors that are currently associated with aggressive disease."
http://www.sciencedaily.com/releases/2013/01/130109185852.htm
Greensboro's Cone Health To Open Sickle Cell Center
The center will be the second round-the-clock sickle cell center in the southeast.http://www.digtriad.com/video/default.aspx?bctid=2081955080001
5-year-old twin rappers battling sickle cell anemia
Marcus and Marlon Davis are identical 5-year-old twins who could be the next big rappers to hail from Houston. But first, they'll have to overcome an obstacle bigger than those typically faced by singers seeking fame in the rap game. Their group -- The Official Two Times Two -- is out with their new single called, "I'ma Act Bad."The twins were four when they started rapping, but they're moving up quickly.
Marcus and Marlon recently had their first live performance at a small downtown venue. "It was fantastic. I thought they were going to be nervous but they weren't," said their mother, Felicia Pollard. Their mother is nervous for another reason.The twins have a severe case of sickle cell anemia. "They've been hospitalized 36 times, both of them," Pollard said. "Marlon, we almost lost him before Thanksgiving,” said their aunt and manager, Linda Marshall. Doctors have told the family that the twins may not live to see the age of 21. Sickle cell causes the boys' red blood cells to collapse into a crescent shape. This can lead to organ damage. It always leads to excruciating pain. In between hospital stays, Marcus and Marlon enjoy sessions in the studio. "It keeps 'em focused, you know, keeps their mind off their pain," Marshall said. Their next goal is to appear on "The Ellen DeGeneres Show." http://www.khou.com/news/health/Young-Houston-rappers-battle-sickle-cell-anemia--185480032.html
Video Resources
SAVE THE DATES
Fellow colleagues, you are invited to participate in the“Public Health Webinar Series on Hemoglobinopathies” Hosted by: The Division of Blood Disorders, CDC 4th Thursday of every month from 2:00PM – 3:00PM EST
2013 Dates: 1/24, 2/28, 3/28, 4/25, 5/23, 6/27, 7/25, 8/22, 9/26, 10/24
The purpose of this webinar series is to offer a hemoglobinopathies learning collaborative platform for providers, consumers, educators, and scientists. CDC Web based Sickle Cell Resources
CDC’s YouTube Link: http://www.youtube.com/watch?v=gnrvYsZWR1c&list=UUiMg06DjcUk5FRiM3g5sqoQ&index=2&feature=plpp_video CDC Video Archive (http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-health CDC Sickle Cell Disease Webpage: http://wwwdev.cdc.gov/NCBDDD/sicklecell/video.html
Articles in the Medical Literature for January
1. Blood. 2013 Jan 24. [Epub ahead of print]
Erythrocyte NADPH oxidase activity modulated by Rac GTPases, PKC, and plasma cytokines contributes to oxidative stress in sickle cell disease. George A, Pushkaran S, Konstantinidis DG, Koochaki S, Malik P,Mohandas N, Zheng Y, Joiner CH, Kalfa TA.
Texas Children's Hematology Center, Texas Children's Hospital, Houston, TX, United States;
Abstract
Chronic inflammation has emerged as an important pathogenic mechanism in sickle cell disease (SCD). One component of this inflammatory response is oxidant stress mediated by reactive oxygen species (ROS) generated by leukocytes, endothelial cells, plasma enzymes, and sickle red blood cells (RBC). Sickle RBC ROS generation has been attributed to sickle hemoglobin auto-oxidation and Fenton chemistry reactions catalyzed by denatured heme moieties bound to the RBC membrane. In this study, we demonstrate that a significant part of ROS production in sickle cells is mediated enzymatically by NADPH oxidase, which is regulated by protein kinase C, Rac GTPase and intracellular Ca(2+) signaling within the sickle RBC. Moreover, plasma from patients with SCD and isolated cytokines, such as TGFβ1 and ET1, enhance RBC NADPH oxidase activity and increase ROS generation. ROS-mediated damage to RBC membrane components is known to contribute to erythrocyte rigidity and fragility in SCD. Erythrocyte ROS generation, hemolysis, vaso-occlusion, and the inflammatory response to tissue damage may therefore act in a positive feedback loop to drive the pathophysiology of sickle cell disease. These findings suggest a novel pathogenic mechanism in SCD and may offer new therapeutic targets to counteract inflammation and RBC rigidity and fragility in sickle cell disease. PMID: 23349388 [PubMed - as supplied by publisher]
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2. Am J Respir Crit Care Med. 2013 Jan 24. [Epub ahead of print]
Hemodynamic Predictors of Mortality in Adults with Sickle Cell Disease.
Mehari A, Alam S, Tian X, Cuttica MJ, Barnett CF, Miles G, Xu D,Seamon C, Adams-Graves P, Castro OL, Minniti CP, Sachdev V,Taylor Vi JG, Kato GJ, Machado RF.
Cardiovascular and Pulmonary Branch, National Heart, Lung, and Blool Institute, Bethesda, Maryland, United States.
Abstract
BACKGROUND:
Pulmonary hypertension (PH) in adults with sickle cell disease (SCD) is associated with early mortality, but no prior studies have evaluated quantitative relationships of mortality to physiological measures of pre- and post-capillary PH.
OBJECTIVE:
To identify risk factors associated with mortality and to estimate the expected survival in a cohort of patients with SCD with PH documented by right heart catheterization.
METHODS:
Nine year follow-up data (median 4.7 years) from the NIH SCD PH screening study are reported. Five hundred twenty-nine adults with SCD were screened by echocardiography between 2001 and 2010 with no exclusion criteria. Hemodynamic data were collected from 84 patients. PH was defined as mean pulmonary artery pressure (PAP) ≥25 mmHg. Survival rates were estimated by the Kaplan-Meier method and mortality risk factors were analyzed by the Cox proportional hazards regression.
MEASUREMENTS AND MAIN RESULTS:
Specific hemodynamic variables were independently related to mortality: mean PAP (HR 1.61, 95% CI 1.05- 2.45, per 10 mmHg increase, P=0.027), diastolic PAP (HR 1.83, 95% CI 1.09-3.08, per 10 mmHg increase, P=0.022), diastolic PAP - pulmonary capillary wedge pressure (HR 2.19, 95% CI 1.23-3.89, per 10 mmHg increase, P=0.008), transpulmonary gradient (HR 1.78, 95% CI 1.14-2.79 per 10 mmHg increase, P=0.011), pulmonary vascular resistance (HR 1.44 , 95% CI 1.09-1.89 per Wood unit increase, P=0.009 ) as risk factors for mortality.
CONCLUSION:
Mortality in adults with SCD and PH is proportional to the physiological severity of pre-capillary PH, demonstrating its prognostic and clinical relevance despite anemia-induced high cardiac output and less severely elevated pulmonary vascular resistance.
PMID: 23348978 [PubMed - as supplied by publisher]
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3. Nephrol Dial Transplant. 2013 Jan 22. [Epub ahead of print]
Improved survival among sickle cell kidney transplant recipients in the recent era.
Huang E, Parke C, Mehrnia A, Kamgar M, Pham PT, Danovitch G,Bunnapradist S.
1Division of Nephrology, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Abstract
BackgroundStudies from older cohorts of kidney recipients have observed that recipients with sickle cell disease (SCD) have lower patient survival compared with age- and race-matched controls. We examined whether survival has improved among SCD recipients in the current era.MethodsUsing Organ Procurement and Transplantation Network/United Network for Organ Sharing data, all black/African-American kidney recipients were stratified according to transplant year into an early (1988-99) and recent era (2000-11). Patient and allograft survival among SCD recipients and those with other diagnoses were compared (early era: SCD n = 67, others n = 20 694; recent era: SCD n = 106, others n = 34 428). A secondary-matched cohort analysis compared patient and allograft survival between SCD recipients matched to recipients with other diagnoses based on recipient and donor age, gender and donor type (deceased versus living).ResultsPatient survival at 6 years was lower among SCD recipients in the early era compared with other diagnoses (55.7 versus 78.0%; P < 0.001). Six-year patient survival among sickle cell recipients improved in the recent era (69.8%; P versus early era = 0.04), although still trended toward lower survival compared with other diagnoses (80.0%; P = 0.07). Multivariate Cox proportional hazard models revealed an increased mortality risk with SCD in both eras [early: hazard ratio (HR) = 3.12; 95% confidence interval (CI): 2.15-4.54; recent: HR: 2.03; 95% CI: 1.31-3.16]. Patient survival among matched SCD recipients in the recent era was comparable to diabetic recipients (SCD: 73.1%, diabetes: 74.1%; P = 0.44).ConclusionsPatient survival has improved among contemporary sickle cell recipients compared with an earlier cohort and is comparable to a matched cohort of diabetic kidney recipients. Appropriately selected SCD patients may receive kidney transplants with reasonable survival outcome.
PMID: 23345624 [PubMed - as supplied by publisher]
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4. Pain Manag Nurs. 2013 Jan 21. pii: S1524-9042(12)00175-0. doi: 10.1016/j.pmn.2012.10.007. [Epub ahead of print]
Care Seeking for Pain in Young Adults with Sickle Cell Disease.
Jenerette CM, Brewer CA, Ataga KI.
School of Nursing, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina. Electronic address:coretta.jenerette@unc.edu. Abstract
In individuals with sickle cell disease (SCD), recognizing the cues to an acute pain episode and responding appropriately are important. The purpose of this mixed-methods pilot study is to identify preliminary factors that influence care seeking for pain in young adults with SCD. Responses were received from 69 young adults with SCD, age 18-35 years. The majority of respondents (88%) wait until the pain intensity is an average of 8.7 (± 1.2) on a scale of 1 to 10 before seeking care. Prominent themes influencing care seeking for pain include: trying to treat pain at home, avoiding the emergency department because of past treatment experiences, the desire to avoid admission to the hospital, and the importance of time in the lives of the young adults with SCD. Young adults with SCD need additional support from family and healthcare providers in order to make timely, appropriate decisions regarding care seeking. Copyright © 2013 American Society for Pain Management Nursing. Published by Elsevier Inc. All rights reserved.
PMID: 23343879 [PubMed - as supplied by publisher]
Related citations
5. J Natl Med Assoc. 2012 Sep-Oct;104(9-10):449-54.
Sickle cell disease patients' perceptions of emergency department pain management.
Porter J, Feinglass J, Artz N, Hafner J, Tanabe P.
St. Jude Children's Research Hospital, Department of Psychology, Memphis, TN 38105, USA.
Abstract
Patients with sickle cell disease (SCD) experience painful crises that often require admission to the emergency department (ED) for pain management. Factors such as ED overcrowding and negative perception and stigmatization of SCD may impact patients' perceptions of the quality of pain management in the ED. Data from a multisite prospective cohort study was assessed to determine whether demographic (age and sex), clinical (time to administration of initial analgesia, number of analgesic doses, discharge disposition, and clinical site), or interpersonal factors (separately measured perceptions of being treated with trust and respect by ED triage nurses, nurses, and physicians) were associated with patient ratings of their pain management in the ED. Patients were adults with SCD seen at 3 EDs (2 urban and 1 rural). Demographic and clinical information was derived from medical record review; interpersonal and ED pain management ratings were derived from interviews conducted 1 week post ED visit. A total of 209 interviews by 98 patients were analyzed. Results indicated significant differences among the ED sites on the demographic, clinical, and interpersonal factors. Overall, patients reported being treated with trust and respect by ED clinicians. Adjusted logistic regression analyses indicated that ED clinical site 1 (odds ratio [OR], 10.42; 95% confidence interval [Cl], 1.44-7.36) and being treated with trust and respect by the ED physician (OR, 25.53; 95% CI, 2.07-314.96) predicted good ED pain management ratings. Interpersonal health care experiences may be an important indicator of patient satisfaction and quality of care received by patients with SCD in the ED.
PMID: 23342819 [PubMed - in process]
Related citations
6. Pediatr Infect Dis J. 2013 Jan 21. [Epub ahead of print]
Epidemiology of Bloodstream Infections in Children with Sickle Cell Disease.
Ellison AM, Ota KV, McGowan KL, Smith-Whitley K.
From the Divisions of 1Emergency Medicine and 3Hematology, Department of Pediatrics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania; 2 the Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania.
Abstract
The incidence of invasive Streptococcus pneumoniae and Haemophilus influenzae type b infections in the sickle cell disease (SCD) population has declined. In this report, we determine the predominant organisms responsible for bloodstream infections (BSIs) and associated foci of infection in a pediatric SCD population during the post heptavalent conjugate (PCV7) vaccine era. Central venous access device associated infections are a new burden to efforts aimed at preventing BSIs in this population.
PMID: 23340560 [PubMed - as supplied by publisher]
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7. Transl Res. 2013 Jan 18. pii: S1931-5244(12)00447-1. doi: 10.1016/j.trsl.2012.12.011. [Epub ahead of print]
Gene therapy for hemoglobinopathies: progress and challenge.
Dong A, Rivella S, Breda L.
Weill Cornell Medical College, Department of Pediatrics, Division of Hematology-Oncology, New York, NY.
Abstract
Hemoglobinopathies are genetic inherited conditions that originate from the lack or malfunction of the hemoglobin protein. Sickle cell disease (SCD) and thalassemia are the most common forms of these conditions. The severe anemia combined with complications that arise in the most affected patients raises the necessity for a cure to restore hemoglobin function. The current routine therapies for these conditions, namely transfusion and iron chelation, have significantly improved the quality of life in patients over the years, but still fail to address the underlying cause of the diseases. A curative option, allogeneic bone marrow transplantation is available, but limited by the availability of suitable donors and graft-vs-host disease. Gene therapy offers an alternative approach to cure patients with hemoglobinopathies and aims at the direct recovery of the hemoglobin function via globin gene transfer. In the last 2 decades, gene transfer tools based on lentiviral vector development have been significantly improved and proven curative in several animal models for SCD and thalassemia. As a result, clinical trials are in progress and 1 patient has been successfully treated with this approach. However, there are still frontiers to explore that might improve this approach: the stoichiometry between the transgenic hemoglobin and endogenous hemoglobin with respect to the different globin genetic mutations; donor cell sourcing, such as the use of induced pluripotent stem cells (iPSCs); and the use of safer gene insertion methods to prevent oncogenesis. With this review we will provide insights about (1) the different lentiviral gene therapy approaches in mouse models and human cells; (2) current and planned clinical trials; (3).hurdles to overcome for clinical trials, such as myeloablation toxicity, insertional oncogenesis, and high vector expression; and (4) future perspectives for gene therapy, including safe harbors and iPSCs technology.
Copyright © 2012 Mosby, Inc. All rights reserved.
PMID: 23337292 [PubMed - as supplied by publisher]
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8. Pediatr Blood Cancer. 2013 Jan 17. doi: 10.1002/pbc.24459. [Epub ahead of print]
Age-related treatment patterns in sickle cell disease patients and the associated sickle cell complications and healthcare costs.
Blinder MA, Vekeman F, Sasane M, Trahey A, Paley C, Duh MS.
Department of Medicine and Department of Pathology & Immunology, Washington University in St. Louis, St. Louis, Missouri.mblinder@dom.wustl.edu. Abstract
BACKGROUND:
This study explored the blood transfusion patterns, SCD complications, utilization of iron chelation therapies (ICT), healthcare resource use, and costs in pediatric, transitioning (18 years old) and adult p
Sickle Cell News for December 2012
Q&A with Dr. Kwaku Ohene-Frempong about the importance of sickle cell screening and disparities between the US and abroad To mark the 50th anniversary of newborn screening, we did an interview with Dr. Kwaku Ohene-Frempong about screening for SCD and trait. Dr. Ohene-Frempong is the Director Emeritus of the Comprehensive Sickle Cell Center at Children’s Hospital of Philadelphia, President of the Sickle Cell Foundation of Ghana, and a NICHQ faculty member. Link http://www.nichq.org/resources/Sickle-Cell-Frempong-QA-Dec2012.html
Into Adulthood, Sickle Cell Patients Rely on ER
Patients with sickle cell disease rely more on the emergency room as they move from pediatric to adult health care, according to researchers at Washington University School of Medicine in St. Louis. Link http://www.infozine.com/news/stories/op/storiesView/sid/54200/ Sickle cell patient refuses to let disease define her
Marquita Gaines is a college student living with sickle cell disease. She was diagnosed at birth and first presented symptoms at a young age. She currently receives regular blood cell transfusions administered by registered nurses from the American Red Cross to treat and prevent complications from the disease Link http://www.cnn.com/2012/12/13/us/iyw-blood-donor-gaines/
Ask The Experts
Q: What is the best diet to give a 8 year old with sickle cell disease (Hb SS)
A: Thank you for your question. Diet in sickle cell disease is the subject of active research, but the studies are far from complete or conclusive. Researchers have not tried to demonstrate a what a "Sickle Cell Diet" should be. Here are some bits of information:
(1) Sickle hemoglobin and breakdown of sickle red blood cells place the body under high oxidant stress, so that taking anti-oxidants supplements seem like a good idea.
(2) Blood chemistries in people with sickle cell are slightly abnormal in multiple different ways. Supplementing for the deficiencies seem like a good idea. (3) Studies have been designed to examine single-ingredient supplements such as vitamins ( folic acid, tetrahydrobiopterin, vitamin D, vitamin C, vitamin E), minerals ( zinc, magnesium), amino acids ( glutamine, arginine, citrulline), anti-oxidants, nitrite, nitrate, or fish oil. I don't remember seeing studies designed as head-to-head comparions to show what ingredient(s) are the most important.
(4) We do think that extra iron supplements are not necessary for sickle cell disease, unless somebody has lost a lot of blood or has demonstrated unusual barriers to iron absorption.
(5) Probably the only advice we can give is to eat a generally balanced diet as recommended for most American families in the general population: plenty of fruits & vegetables, balanced protein intake (meats, dairy, nuts & beans), drink plenty of fluids, eat dietary fiber, and avoid excessive amounts of sugary or fried snacks. This nutritional advice is based on dietary research on reduce the risks of diabetes, heart attacks, stroke, and some cancers. Sincerely,
Lewis Hsu, MD
Pediatric Hematologist
Video Resources
SAVE THE DATESFellow colleagues, you are invited to participate in the“Public Health Webinar Series on Hemoglobinopathies” Hosted by: The Division of Blood Disorders, CDC
4th Thursday of every month from 2:00PM – 3:00PM EST2013 Dates: 1/24, 2/28, 3/28, 4/25, 5/23, 6/27, 7/25, 8/22, 9/26, 10/24 The purpose of this webinar series is to offer a hemoglobinopathies learning collaborative platform for providers, consumers, educators, and scientists. January’s webinar will take place on Thursday, January 24th from 2:00pm – 3:00pm EST, featuring Dr. Thomas Coates’ presentation on “Monitoring and Management of Transfusional Iron Overload”If you have ideas on topics for future webinars, or have any questions or comments about this series please submit them to Shae Pope spope@cdc.gov.
CDC would appreciate your feedback on this year’s “Public Health Webinar Series on Hemoglobinopathies” hosted by the Division of Blood Disorders, CDCby completing a brief online survey: http://www.surveymonkey.com/s/M986NWM Please forward the survey link to colleagues who participated on this webinar series as a group.Your feedback is valuable and will help us improve the series for 2013. Thank you for your participation!
CDC Web based Sickle Cell Resources
CDC’s YouTube Link: http://www.youtube.com/watch?v=gnrvYsZWR1c&list=UUiMg06DjcUk5FRiM3g5sqoQ&index=2&feature=plpp_video CDC Video Archive (you can get the video code from this site and embed the video on another webpage, or download it): http://www.cdc.gov/NCBDDD/video/SickleCell/index.html CDC Sickle Cell Disease Webpage: http://wwwdev.cdc.gov/NCBDDD/sicklecell/video.html Articles in the Medical Literature for November 1. Blood. 2012 Dec 20. [Epub ahead of print]
Hemolysis and free hemoglobin revisited: exploring hemoglobin and hemin scavengers as a novel class of therapeutic proteins. Schaer DJ, Buehler PW, Alayash AI, Belcher JD, Vercellotti GM.
Division of Internal Medicine, University Hospital, Zurich, Switzerland;
Abstract
Hemolysis occurs in many hematologic and non-hematologic diseases. Extracellular hemoglobin (Hb) has been recognized to trigger specific pathophysiologies that are associated with ad
verse clinical outcomes in patients with hemolysis, such as acute and chronic vascular disease, inflammation, thrombosis and renal impairment. Among the molecular characteristics of extracellular Hb, translocation of the molecule into the extravascular space, oxidative and nitric oxide reactions, hemin release and molecular signaling effects of hemin appear to be the most critical. Limited clinical experience with a plasma-derived haptoglobin product in Japan and more recent preclinical animal studies suggest that the natural Hb and hemin scavenger proteins haptoglobin (Hp) and hemopexin (Hpx) have a strong potential to neutralize the adverse physiologic effects of Hb and hemin. This includes conditions that are as diverse as red blood cell transfusion, sickle cell disease, sepsis and extracorporeal circulation. This perspective reviews the principal mechanisms of Hb and hemin toxicity in different disease states, updates how the natural scavengers efficiently control these toxic moieties, and explores critical issues in the development of human plasma-derived Hp and Hpx as therapeutics for patients with excessive intravascular hemolysis.
PMID: 23264591 [PubMed - as supplied by publisher]
2. Transfus Apher Sci. 2012 Dec 17. pii: S1473-0502(12)00234-0. doi: 10.1016/j.transci.2012.09.002. [Epub ahead of print]
Long-term red blood cell exchange in children with sickle cell disease: Manual or automatic?
Duclos C, Merlin E, Paillard C, Thuret I, Demeocq F, Michel G, Kanold J.
CHU Bordeaux Hôpital Haut-Lévêque, Service hématologie, 33600 Pessac, France. Electronic address: cedric.duclos@chu-bordeaux.fr.
Abstract
Little information is available on erythrocytapheresis in children with sickle cell disease, and no comparison has ever been made with manual exchanges in a long-term blood exchange program. We matched a historical cohort of five patients who received 60 erythrocytapheresis procedures with five who received 124 manual exchanges. Long-term erythrocytapheresis was feasible and well-tolerated even in children of low weight. In a long-term approach, automated exchanges were more efficient in maintaining a low HbS level, and exchanges could be spaced out. This approach appears especially useful in the cases where the HbS level must be maintained below 30%.
Copyright © 2012 Elsevier Ltd. All rights reserved.
PMID: 23257506 [PubMed - as supplied by publisher]
3. Am J Hematol. 2012 Nov 17. doi: 10.1002/ajh.23365. [Epub ahead of print]
Hydroxyurea treatment decreases glomerular hyperfiltration in children with sickle cell anemia.
Aygun B, Mortier NA, Smeltzer MP, Shulkin BL, Hankins JS, Ware RE.
Department of Hematology, St. Jude Children's Research Hospital, Memphis, Tennessee. baygun@nshs.edu.
Abstract
Glomerular hyperfiltration and microalbuminuria/proteinuria are early manifestations of sickle nephropathy. The effects of hydroxyurea therapy on these renal manifestations of sickle cell anemia (SCA) are not well defined. Our objective was to investigate the effects of hydroxyurea on glomerular filtration rate (GFR) measured by (99m) Tc-DTPA clearance, and on microalbuminuria/proteinuria in children with SCA. Hydroxyurea study of long-term effects (HUSTLE) is a prospective study (NCT00305175) with the goal of describing the long-term cellular, molecular, and clinical effects of hydroxyurea therapy in SCA. Glomerular filtration rate, urine microalbumin, and serum cystatin C were measured before initiating hydroxyurea therapy and then repeated after 3 years. Baseline and Year 3 values for HUSTLE subjects were compared using the Wilcoxon Signed Rank test. Associations between continuous variables were evaluated using Spearman correlation coefficient. Twenty-three children with SCA (median age 7.5 years, range, 2.5-14.0 years) received hydroxyurea at maximum tolerated dose (MTD, 24.4 ± 4.5 mg/kg/day, range, 15.3-30.6 mg/kg/day). After 3 years of treatment, GFR measured by (99m) Tc-DTPA decreased significantly from 167 ± 46 mL/min/1.73 m(2) to 145 ± 27 mL/min/1.73 m(2) (P = 0.016). This decrease in GFR was significantly associated with increase in fetal hemoglobin (P = 0.042) and decrease in lactate dehydrogenase levels (P = 0.035). Urine microalbumin and cystatin C levels did not change significantly. Hydroxyurea at MTD is associated with a decrease in hyperfiltration in young children with SCA.Am. J. Hematol., 2012. © 2012 Wiley Periodicals, Inc. Copyright © 2012 Wiley Periodicals, Inc.
PMID: 23255310 [PubMed - as supplied by publisher]
4. Pediatr Blood Cancer. 2012 Dec 19. doi: 10.1002/pbc.24413. [Epub ahead of print]
High rates of recurrent biliary tract obstruction in children with sickle cell disease.
Amoako MO, Casella JF, Strouse JJ.
Johns Hopkins University School of Medicine, Baltimore, Maryland.
Abstract
BACKGROUND:
Individuals with sickle cell disease (SCD) have an increased risk of cholelithiasis from bilirubin stones. Symptomatic biliary tract disease (BTD) includes acute and chronic cholecystitis, obstruction of the common bile duct (CBD), cholangitis, and gallstone pancreatitis. Cholecystectomy is the main treatment strategy for symptomatic patients; however, the prevalence of recurrent BTD following cholecystectomy has not been systematically evaluated. We conducted a retrospective cohort study to describe the recurrence of BTD after cholecystectomy and characterize risk factors for recurrent disease. PROCEDURE:
We identified patients <22 years of age who presented to the Johns Hopkins Children Center with symptomatic BTD from July 1993 to June 2008. RESULTS:
We identified 56 patients with a total of 76 episodes of symptomatic BTD (median age at first event 15.9, range 4.6-21.5 years). Eleven of the 56 patients (19.6%) had at least one episode of recurrent symptomatic BTD (median follow-up of 5.3 years). Baseline characteristics were similar between the patients with a single episode of BTD and those with recurrent BTD. CONCLUSIONS:
These results demonstrate that recurrent BTD is a frequent complication of SCD (20% by age 4 years) and often presents as CBD obstruction by stone, despite cholecystectomy. In our cohort, recurrence was not associated with age at first episode, baseline total bilirubin, gender, or genotype of SCD. Pediatr Blood Cancer © 2012 Wiley Periodicals, Inc.
Copyright © 2012 Wiley Periodicals, Inc.
PMID: 23255346 [PubMed - as supplied by publisher]
5. Clin Transl Sci. 2012 Dec;5(6):437-44. doi: 10.1111/cts.12005. Epub 2012 Oct 17.
Effect of propranolol as antiadhesive therapy in sickle cell disease.
De Castro LM, Zennadi R, Jonassaint JC, Batchvarova M, Telen MJ.
Duke Comprehensive Sickle Cell Center, Division of Hematology, Department of Medicine, Duke University, Durham, North Carolina, USA. Abstract
Sickle red blood cells (SSRBCs) adhere to both endothelial cells (ECs) and the extracellular matrix. Epinephrine elevates cyclic adenosine monophosphate in SSRBCs and increases adhesion of SSRBCs to ECs in a β-adrenergic receptor and protein kinase A-dependent manner. Studies in vitro as well as in vivo have suggested that adrenergic stimuli like epinephrine may contribute to vaso-occlusion associated with physiologic stress. We conducted both animal studies and a Phase I dose-escalation study in sickle cell disease (SCD) patients to investigate whether systemically administered propranolol inhibits SSRBC adhesion and to document the safety of propranolol in SCD. Systemically administered propranolol prevented SSRBC adhesion and associated vaso-occlusion in a mouse model. In patients receiving a single oral dose of 10, 20, or 40 mg propranolol, SSRBC adhesion to ECs was studied before and after propranolol, with and without stimulation with epinephrine. Propranolol administration significantly reduced epinephrine-stimulated SSRBC adhesion in a dose dependent manner (p = 0.03), with maximum inhibition achieved at 40 mg. Adverse events were not severe, did not show dose dependence, and were likely unrelated to drug. No significant heart rate changes occurred. These results imply that β-blockers may have a role as antiadhesive therapy for SCD. Clin Trans Sci 2012; Volume 5: 437-444. © 2012 Wiley Periodicals, Inc.
PMID: 23253664 [PubMed - in process]
6. Platelets. 2012 Dec 18. [Epub ahead of print]
Circulating platelet and erythrocyte microparticles in young children and adolescents with sickle cell disease: Relation to cardiovascular complications. Tantawy AA, Adly AA, Ismail EA, Habeeb NM, Farouk A.
Pediatrics Department, Faculty of Medicine, Ain Shams University , Cairo , Egypt.
Abstract
Sickle cell disease (SCD) is characterized by a complex vasculopathy, consisting of endothelial dysfunction and increased arterial stiffness, with a global effect on cardiovascular function. The hypercoagulable state may result from chronic hemolysis and circulating cell-derived microparticles (MPs) originating mainly from activated platelets and erythrocytes. We measured the levels of platelet and erythrocyte-derived MPs (PMPs and ErMPs) in 50 young SCD patients compared with 40 age- and sex-matched healthy controls and assessed their relation to clinicopathological characteristics and aortic elastic properties. Patients were studied stressing on the occurrence of sickling crisis, transfusion history, hydroxyurea therapy, hematological, and coagulation profile as well as flow cytometric expression of PMPs (CD41b(+)) and ErMPs (glycophorin A(+)). Echocardiography was performed to assess aortic stiffness and distensibility, left ventricular function and pulmonary artery pressure. Both PMPs and ErMPs were significantly elevated in SCD patients compared with control group (p < 0.001). SCD patients had significantly elevated D-dimer and von Willebrand factor antigen (vWF Ag) levels with lower antithrombin III compared with controls (p < 0.001). Aortic stiffness index and pulmonary artery pressure were significantly higher in SCD (p < 0.001), whereas aortic strain and aortic distensibility were significantly lower (p < 0.001) compared with controls. MPs levels were significantly increased in SCD patients with pulmonary hypertension, acute chest syndrome, and stroke as well as those who had history of thrombosis or splenectomy (p < 0.001). Also, patients in sickling crisis during the study had higher PMPs and ErMPs levels than those in steady state (p < 0.001). Patients on hydroxyurea therapy had lower MPs levels than untreated patients (p < 0.001). PMPs and ErMPs were positively correlated with disease duration, transfusion index, white blood cell count, HbS, markers of hemolysis, serum ferritin, D-dimer, and vWF Ag, whereas negatively correlated with hemoglobin and HbF levels (p < 0.05). Both PMPs and ErMPs levels were positively correlated with aortic stiffness, pulmonary artery pressure, and tricuspid regurgitant velocity (p < 0.05) while negatively correlated with aortic distensibility. We suggest that PMPs and ErMPs overproduction may be considered a potential biological marker for vascular dysfunction and disease severity in SCD and may be implicated in the pathogenesis of coagulation abnormalities encountered in those patients. Their levels are closely related to sickling crisis, pulmonary hypertension, markers of hemolysis, fibrinolysis, and iron overload. Therefore, quantification of MPs in SCD may provide utility for identifying patients who are at increased risk of thrombotic events or cardiovascular abnormalities and would help to monitor response to hydroxyurea therapy.
PMID: 23249216 [PubMed - as supplied by publisher]
7. Clin J Pain. 2012 Dec 14. [Epub ahead of print]
A Preliminary Study of Psychiatric, Familial, and Medical Characteristics of High-utilizing Sickle Cell Disease Patients. Carroll PC, Haywood C Jr, Hoot MR, Lanzkron S.
*Department of Psychiatry and Behavioral Sciences †Department of Medicine, Division of Hematology, The Johns Hopkins School of Medicine ‡The Johns Hopkins Berman Institute of Bioethics, Baltimore, MA.
Abstract
OBJECTIVES:: To identify demographic, medical, and psychosocial characteristics that distinguished sickle cell disease (SCD) patients who were frequent utilizers of urgent or emergent care resources from low-utilizing patients. METHODS:: Patients at a large urban comprehensive SCD treatment center were recruited from clinic or during urgent care visits. Participants who were high utilizers, defined as having >4 acute or emergency care visits in the prior 12 months, were compared with patients with more typical utilization patterns on lifetime complications of SCD, family background, psychiatric history, occupational function, coping, depressive symptoms, and personality. RESULTS:: High utilizers were nearly a decade younger on average; despite this they had a similar lifetime history of SCD complications. High-utilizing patients' parents seemed to have greater educational achievement overall. High utilizers reported a nearly 3-fold greater prevalence of psychiatric illness in family members than low utilizers. On other measures, including coping strategies, social support, and personality, the 2 groups were comparable. DISCUSSION:: The study strengthens emerging evidence that disease severity, familial factors related to greater parental education, and psychiatric illness are important factors in high care utilization in patients with SCD.
PMID: 23246997 [PubMed - as supplied by publisher]
8. Cochrane Database Syst Rev. 2012 Dec 12;12:CD007175. doi: 10.1002/14651858.CD007175.pub3.
Antibiotics for treating osteomyelitis in people with sickle cell disease.
Martí-Carvajal AJ, Agreda-Pérez LH.
Facultad de Ciencias de la Salud Eugenio Espejo, Universidad Tecnológica Equinoccial, Quito, Ecuador.
Abstract
BACKGROUND:
Osteomyelitis (both acute and chronic) is one of the most common infectious complications in people with sickle cell disease. There is no standardized approach to antibiotic therapy and treatment is likely to vary from country to country. Thus, there is a need to identify the efficacy and safety of different antibiotic treatment approaches for people with sickle cell disease suffering from osteomyelitis.
OBJECTIVES:
To determine whether an empirical antibiotic treatment approach (monotherapy or combination therapy) is effective and safe as compared to pathogen-directed antibiotic treatment and whether this effectiveness and safety is dependent on different treatment regimens, age or setting.
SEARCH METHODS:
We searched The Group's Haemoglobinopathies Trials Register, which comprises references identified from comprehensive electronic database searches and handsearching of relevant journals and abstract books of conference proceedings. We also searched the LILACS database (1982 to 2 November 2012), African Index Medicus (3 November 2012), ISI Web of Knowledge (3 November 2012) and World Health Organization International Clinical Trials Registry Platform (3 November 2012).Date of most recent search of the Group's Haemoglobinopathies Trials Register: 29 October 2012.
SELECTION CRITERIA:
We searched for published or unpublished randomised and quasi-randomised controlled trials.
DATA COLLECTION AND ANALYSIS:
Each author intended to independently extract data and assess trial quality by standard Cochrane Collaboration methodologies, but no eligible randomised controlled trials were identified.
MAIN RESULTS:
This update was unable to find any randomised or quasi-randomised controlled trials on antibiotic treatment approaches for osteomyelitis in people with sickle cell disease.
AUTHORS' CONCLUSIONS:
We were unable to identify any relevant trials on the efficacy and safety of the antibiotic treatment approaches for people with sickle cell disease suffering from osteomyelitis. Randomised controlled trials are needed to establish the optimum antibiotic treatment for this condition. PMID: 23235640 [PubMed - in process]
9. Cochrane Database Syst Rev. 2012 Dec 12;12:CD003968. doi: 10.1002/14651858.CD003968.pub3.
Psychological therapies for the management of chronic and recurrent pain in children and adolescents.
Eccleston C, Palermo TM, Williams AC, Lewandowski A, Morley S, Fisher E, Law E.
Centre for Pain Research, The University of Bath, Claverton Down, Bath, UK, BA2 7AY.
Abstract
BACKGROUND:
Chronic pain affects many children, who report severe pain, distressed mood, and disability. Psychological therapies are emerging as effective interventions to treat children with chronic or recurrent pain. This update adds recently published randomised controlled trials (RCTs) to the review published in 2009. OBJECTIVES:
To assess the effectiveness of psychological therapies, principally cognitive behavioural therapy and behavioural therapy, for reducing pain, disability, and improving mood in children and adolescents with recurrent, episodic, or persistent pain. We also assessed the risk of bias and methodological quality of the included studies.
SEARCH METHODS:
Searches were undertaken of MEDLINE, EMBASE, and PsycLIT. We searched for RCTs in references of all identified studies, meta-analyses and reviews. Date of most recent search: March 2012.
SELECTION CRITERIA:
RCTs with at least 10 participants in each arm post-treatment comparing psychological therapies with active treatment were eligible for inclusion (waiting list or standard medical care) for children or adolescents with episodic, recurrent or persistent pain. DATA COLLECTION AND ANALYSIS:
All included studies were analysed and the quality of the studies recorded. All treatments were combined into one class: psychological treatments; headache and non-headache outcomes were separately analysed on three outcomes: pain, disability, and mood. Data were extracted at two time points; post-treatment (immediately or the earliest data available following end of treatment) and at follow-up (at least three months after the post-treatment assessment point, but not more than 12 months).
MAIN RESULTS:
Eight studies were added in this update of the review, giving a total of 37 studies. The total number of participants completing treatments was 1938. Twenty-one studies addressed treatments for headache (including migraine); seven for abdominal pain; four included mixed pain conditions including headache pain, two for fibromyalgia, two for pain associated with sickle cell disease, and one for juvenile idiopathic arthritis. Analyses revealed five significant effects. Pain was found to improve for headache and non-headache groups at post-treatment, and for the headache group at follow-up. Mood significantly improved for the headache group at follow-up, although, this should be interpreted with caution as there were only two small studies entered into the analysis. Finally, disability significantly improved in the non-headache group at post-treatment. There were no other significant effects. AUTHORS' CONCLUSIONS:
Psychological treatments are effective in reducing pain intensity for children and adolescents (<18 years) with headache and benefits from therapy appear to be maintained. Psychological treatments also improve pain and disability for children with non-headache pain. There is limited evidence available to estimate the effects of psychological therapies on mood for children and adolescents with headache and non-headache pain. There is also limited evidence to estimate the effects on disability in children with headache. These conclusions replicate and add to those of the previous review which found psychological therapies were effective in reducing pain intensity for children with headache and non-headache pain conditions, and these effects were maintained at follow-up. PMID: 23235601 [PubMed - in process]
10. Hematology Am Soc Hematol Educ Program. 2012;2012:290-1. doi: 10.1182/asheducation-2012.1.290.
What is the evidence that hydroxyurea improves health-related quality of life in patients with sickle cell disease? Darbari DS, Panepinto JA.

1Division of Hematology, Center for Cancer and Blood Disorders, Children's National Medical Center, Washington, DC; and. Abstract
A 10-year-old male patient with homozygous sickle cell disease presents for a follow-up clinic visit after a recent hospitalization for a painful vasoocclusive event. His parents mention that in the past year he has had 4 hospitalizations for vasoocclusive events, 2 of which were complicated by the development of acute chest syndrome that resulted in transfer to the intensive care unit. He has missed many school days and may be retained a grade this year. He feels particularly sad about missing the school field trip that occurred during his last hospitalization. He also reports that he is not able to keep up with his friends when participating in physical activities at school. The child's parents are worried that he may be depressed. You as the provider discuss the option of hydroxyurea therapy. His parents ask if hydroxyurea would improve his overall well-being and functioning.
Free Article
PMID: 23233594 [PubMed - in process]
11. Hematology Am Soc Hematol Educ Program. 2012;2012:284-9. doi: 10.1182/asheducation-2012.1.284.
Health-related quality of life in patients with hemoglobinopathies.
Panepinto JA.
1Department of Pediatrics, Section of Hematology/Oncology/Bone Marrow Transplantation, Children's Hospital of Wisconsin/Medical College of Wisconsin, Milwaukee, WI.
Abstract
The use of patient-reported outcomes to measure the health and well-being of patients from their perspective has become an acceptable method to determine the impact of a disease and its treatment on patients. In patients with hemoglobinopathies, prior work has demonstrated that patients experience significant impairment in health-related quality of life (HRQL, a type of patient-reported outcome). This work has provided a better understanding of the burden that these patients experience and the factors that are associated with worse HRQL. The recent development of disease-specific HRQL instruments in sickle cell disease heralds new opportunities to explore the impact of the disease and its treatment on patients. The standards necessary to incorporate the measurement of HRQL into clinical trials are now well outlined by regulatory agencies. Measuring HRQL within a clinical practice setting and outside of the healthcare setting while the patient is at home are now possible and present new opportunities to understand the health and well-being of patients with hemoglobinopathies.
Free Article
PMID: 23233593 [PubMed - in process]
12. Hematology Am Soc Hematol Educ Program. 2012;2012:276-83. doi: 10.1182/asheducation-2012.1.276.
Advances in stem cell transplantation and gene therapy in the β-hemoglobinopathies.
Payen E, Leboulch P.
1Commissariat a l'Energie Atomique, Institute of Emerging Diseases and Innovative Therapies, Fontenay aux Roses, France; Abstract
High-level production of β-globin, γ-globin, or therapeutic mutant globins in the RBC lineage by hematopoietic stem cell gene therapy ameliorates or cures the hemoglobinopathies sickle cell disease and beta thalassemia, which are major causes of morbidity and mortality worldwide. Considerable efforts have been made in the last 2 decades in devising suitable gene-transfer vectors and protocols to achieve this goal. Five years ago, the first β(E)/β(0)-thalassemia major (transfusion-dependent) patient was treated by globin lentiviral gene therapy without injection of backup cells. This patient has become completely transfusion independent for the past 4 years and has global amelioration of the thalassemic phenotype. Partial clonal dominance for an intragenic site (HMGA2) of chromosomal integration of the vector was observed in this patient without a loss of hematopoietic homeostasis. Other patients are now receiving transplantations while researchers are carefully weighing the benefit/risk ratio and continuing the development of further modified vectors and protocols to improve outcomes further with respect to safety and efficacy.
Free Article
PMID: 23233592 [PubMed - in process]
13. Hematology Am Soc Hematol Educ Program. 2012;2012:271-5. doi: 10.1182/asheducation-2012.1.271.
Emerging 'A' therapies in hemoglobinopathies: agonists, antagonists, antioxidants, and arginine.
Vichinsky E.
1Hematology/Oncology, Children's Hospital and Research Center Oakland, Oakland, CA.
Abstract
Sickle cell disease and thalassemia have distinctly different mutations, but both share common complications from a chronic vasculopathy. In the past, fetal hemoglobin-modulating drugs have been the main focus of new therapy, but the increased understanding of the complex pathophysiology of these diseases has led to the development of novel agents targeting multiple pathways that cause vascular injury. This review explores the pathophysiology of hemoglobinopathies and novel drugs that have reached phase 1 and 2 clinical trials. Therapies that alter cellular adhesion to endothelium, inflammation, nitric oxide dysregulation, oxidative injury, altered iron metabolism, and hematopoiesis will be highlighted. To evaluate these therapies optimally, recommendations for improving clinical trial design in hemoglobinopathies are discussed.
Free Article
PMID: 23233591 [PubMed - in process]
14. Hematology Am Soc Hematol Educ Program. 2012;2012:208-14. doi: 10.1182/asheducation-2012.1.208.
Baby on board: what you need to know about pregnancy in the hemoglobinopathies.
Naik RP, Lanzkron S.
1Department of Medicine, Division of Hematology, Johns Hopkins University, Baltimore, MD.
Abstract
Pregnancy poses a unique challenge to patients with sickle cell disease and β-thalassemia, who often have exacerbations of hemolysis or anemia during the gestational period, experience higher rates of obstetric and fetal complications, and may have distinct underlying comorbidities related to vasculopathy and iron overload that can endanger maternal health. Optimal management of pregnant women with hemoglobinopathies requires both an understanding of the physiologic demands of pregnancy and the pathophysiology of disease-specific complications of inherited blood disorders. A multidisciplinary team of expert hematologists and high-risk obstetricians is therefore essential to ensuring appropriate antenatal maternal screening, adequate fetal surveillance, and early recognition of complications. Fortunately, with integrated and targeted care, most women with sickle cell disease and β-thalassemia can achieve successful pregnancy outcomes.
Free Article
PMID: 23233583 [PubMed - in process]
15. Hemoglobin. 2012 Dec 7. [Epub ahead of print]
Safety And Efficacy Of 4 Years Of Deferasirox Treatment For Sickle Cell Disease Patients.
Vlachaki E, Mainou M, Bekiari E, Vetsiou E, Tsapas A.
Thalassemia Unit, Second Medical Department, Hippokratio General Hospital, Aristotle University Thessaloniki , Greece. Abstract
Deferasirox (DFRA) is a novel oral chelator agent for treatment of iron overload. Although well established in the treatment of β-thalassemia major (β-TM), it has not yet been fully investigated in patients with sickle cell disease. The aim of this report is to present the preliminary results of a pilot study assessing the effect of 4 years of DFRA treatment in six patients with sickle cell disease who are in need of recurrent transfusions. Our results show a significant reduction of ferritin levels and improvement of liver hemosiderosis, assessed by means of magnetic resonance imaging T2* (MRI T2*). None of the patients presented any serious adverse effects and the treatment was well tolerated. These results are in accordance with previous studies about the use of DFRA in sickle cell disease. PMID: 23215738 [PubMed - as supplied by publisher]
16. J Pediatr Hematol Oncol. 2012 Nov 30. [Epub ahead of print]
The Other Side of Abnormal: A Case Series of Low Transcranial Doppler Velocities Associated With Stroke in Children With Sickle Cell Disease.
Buchanan ID, James-Herry A, Osunkwo I.
*Morehouse School of Medicine, Department of Pediatrics ‡Division of Hematology/Oncology, Department of Pediatrics, Emory University §Aflac Cancer Center and Blood Disorder Services of Children Healthcare of Atlanta †Sickle Cell Consortium, Atlanta, GA.
Abstract
The prevalence of cerebrovascular events in sickle cell disease (SCD) can be as low as 10% by the age of 18 for overt cerebral infarction or strokes, up to 35% for silent cerebral infarction, and as high as 43/100 patient years for acute silent cerebral ischemic events. These events typically occur during childhood with a peak incidence between the age of 4 and 7 years. The cumulative risk of central nervous system events in SCD increases with age. Transcranial Doppler (TCD) ultrasonography is an established screening tool for detecting children with SCD at highest risk for stroke by measuring the flow velocity in the large intracranial vessels. Velocities are considered abnormal with readings >200 cm/s and chronic red cell transfusions are recommended to reduce further risk or progression. Red cell transfusions have reduced the rate of cerebrovascular accidents by 90%. We describe the case of 5 children with sickle cell anemia, whose antecedent screening TCD velocities were measured to be ≤70 cm/s in the study. All patients developed some form of cerebral insults, an overt cerebral infarctions, silent stroke or transient ischemic attack, and are now receiving chronic transfusion to prevent further progression. On the basis of these cases, low TCD velocities may identify another group of children at risk for cerebrovascular disease. We suggest TCD velocities <70 cm/s in major vessels (MCA, ACA, and ICA) be considered another type of "abnormal," prompting more sensitive evaluations (such as a brain MRI and MRA) for the presence of central nervous system disease, and, if negative, decrease intervals between subsequent TCD assessments. PMID: 23211694 [PubMed - as supplied by publisher]
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17. Pediatr Blood Cancer. 2012 Nov 28. doi: 10.1002/pbc.24395. [Epub ahead of print]
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Sickle Cell News for November 2012
Sickle cell anemia: maps and newborn estimates In 2010 around 300,000 babies were born with sickle cell anaemia, a serious blood disorder which can be fatal if untreated, and 5.5 million newborns inherited the sickle cell gene, a new study suggests. The 5.5 million who only inherit the gene will usually not present any clinical complications, these individuals could still pass this gene on to their offspring and give birth to babies suffering from sickle cell anaemia. Accurate estimates of the numbers and geographical distribution of those affected is vital for effective prevention and treatment policies to be put in place. The research by the Malaria Atlas Project (MAP; http://www.map.ox.ac.uk), a multinational team of researchers funded mainly by the Wellcome Trust, maps the geographical contemporary distribution of sickle haemoglobin - a genetic disorder causing sickle cell anaemia. It also estimates the number of newborns affected by this condition.Historically, the sickle cell gene (haemoglobin S or HbS) was common in people of African, Mediterranean and Indian origin but, following human migrations, it is now much more widespread. The MAP team's estimates suggest that about half of the affected newborns are born in Nigeria, the Democratic Republic of the Congo, and India, but important uncertainties remain in large parts of these countries due to a lack of data. An image showing areas with high predicted frequencies of sickle haemoglobin [credit: MAP]
Dr Fred Piel from Oxford University's Department of Zoology, who led the research, said: "Sickle cell disease has now been studied intensively for more than a hundred years but our knowledge about its current distribution and burden is really poor. Our aim was to use available evidence-based epidemiological data from the literature combined with modern mapping and modelling methods to come up with the best maps and estimates. In the future, we hope that accessing additional data, including from national screening programmes, would help further refine these results."
This study provides the first rigorous assessment of the contemporary distribution of this disorder and uses state-of-the-art methodology to estimate the number of newborns affected globally, regionally and nationally. The team was inspired by work conducted by Frank B Livingstone, in the 1970s and 80s. Although ageing, his global database on inherited blood disorder frequencies still represents a unique resource. There is growing awareness about the burden of genetic blood disorders, sickle cell disease in particular, and it is crucial for public health policy makers to access evidence-based quantitative epidemiological data allowing the assessment of the current situation and to measure changes in the future. The data will be released in open access on the MAP website (www.map.ox.ac.uk).Professor Sir David Weatherall, who has shared his unique expertise in the field and provided exceptional support to this project, said: "The inherited haemoglobin disorders, notably sickle cell disease and the different forms of thalassaemia, are by far the commonest monogenic diseases and the vast majority of births affected occur in low or middle income countries. Previous work suggested that their distribution varied considerably even within short geographical distances and data regarding their true frequency is extremely difficult to obtain. Hitherto, they have been largely ignored by the international health community and it is absolutely vital that better information is obtained regarding their true frequency so that their control and better management can be achieved, particularly in the developing countries where they are so common. The impressive work described in this paper provides an invaluable base for future work of this kind."
For further information visit http://www.map.ox.ac.uk or contact Dr Fred Piel of Oxford University on +44 (0)1865 271 132 or email fred.piel@zoo.ox.ac.uk or Professor Simon Hay of Oxford University on +44 (0)1865 271 243 or email simon.hay@zoo.ox.ac.uk. Sickle Cell Transplants Could See Wider UseNY Times article - CDC committee recommends HibMenCY for infantsThe Centers for Disease Control and Prevention’s Advisory Committee for Immunization Practices voted on October 24 to recommend a meningococcal vaccination for infants at increased risk of contracting the disease.The committee recommended that infants with anatomic or functional asplenia, including sickle cell disease, or with recognized persistent complement pathway deficiencies receive the HibMenCY meningococcal vaccine. The recommended vaccination practice includes four doses of the vaccine at two, four, six and 12 through 15 months.The vaccine can be used in infants ages two through 18 months who live in communities with serogroup Y and C meningococcal disease outbreaks.“The ACIP meningococcal vaccine working group concluded that the recently licensed HibMenCY infant vaccine should be routinely given to those infants at high risk for meningococcal disease due to certain immunocompromising conditions,” Alison Patti, a representative with the CDC, said. “Now that this vaccine is available, it made clinical and public health sense to routinely administer it to high risk infants. Before HibMenCY, no infant meningococcal vaccine was available.”ACIP’s recommendations were forwarded to the CDC’s director for approval. If approved, the recommendations will represent the official CDC recommendations for U.S. immunizations. Until that time, the recommendations are considered provisional.Meningococcal disease is a vaccine-preventable and serious bacterial infection caused by Neisseria meningitis bacteria. The two most common illnesses caused by the bacteria include bloodstream infections and meningitis. Infants with medical conditions like a complement component deficiency or sickle cell disease are at increased meningococcal disease risk.“It’s estimated that 5,000 kids per year will get HibMenCY vaccine through this high risk recommendation,” Patti said. “Most of these children are at lifelong risk for meningococcal disease, so they can now be protected younger than ever before.”Video ResourcesNew Webinar Posted for November10/25/12 Webinar - Strategies from the Field – Data Collection and Harmonization CDC’s Division of Blood Disorders and RuSH Project StatesThe video link is mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDCdatacollection.wmvSee all the previous CDC Sickle Cell Webinars and instructions to view or listen to future events see: http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-healthWe would appreciate your feedback on this year’s “Public Health Webinar Series on Hemoglobinopathies” hosted by the Division of Blood Disorders, CDCby completing a brief online survey: http://www.surveymonkey.com/s/M986NWM Please forward the survey link to colleagues who participated on this webinar series as a group.Your feedback is valuable and will help us improve the series for 2013.Thank you for your participation! CDC Web based Sickle Cell ResourcesCDC’s YouTube Link: http://www.youtube.com/watch?v=gnrvYsZWR1c&list=UUiMg06DjcUk5FRiM3g5sqoQ&index=2&feature=plpp_video CDC Video Archive (you can get the video code from this site and embed the video on another webpage, or download it): http://www.cdc.gov/NCBDDD/video/SickleCell/index.html CDC Sickle Cell Disease Webpage: http://wwwdev.cdc.gov/NCBDDD/sicklecell/video.html Articles in the Medical Literature for November1. Mediterr J Hematol Infect Dis. 2012;4(1):e2012065. doi: 10.4084/MJHID.2012.065. Epub 2012 Oct 3.Sickle cell anaemia and malaria.Luzzatto L.Honorary Professor of Haematology, University of Florence, Scientific Director, Istituto Toscano Tumori. Firenze. Italy.AbstractSickle cell anaemia is a major chapter within haemolytic anaemias; at the same time, its epidemiology is a remarkable signature of the past and present world distribution of Plasmodium falciparum malaria. In this brief review, in keeping with the theme of this journal, we focus on the close and complex relationship betweeen this blood disease and this infectious disease. On one hand, heterozygotes for the sickle gene (AS) are relatively protected against the danger of dying of malaria, as now firmly established through a number of clinical field studies from different parts of Africa. In addition, experimental work is consistent with a plausibile mechanism: namely, that in AS heterozygotes P falciparum-infected red cells sickle preferentially and are then removed by macrophages. On the other hand, patients who are homozygous for the sickle gene and therefore suffer from sickle cell anaemia (SCA) are highly susceptible to the lethal effects of malaria. The simplest explanation of this fact is that malaria makes the anaemia of SCA more severe; in addition, in SCA there is often hyposplenism, which reduces clearance of parasites. From the point of view of public health it is important that in malaria-endemic countries patients with SCA, and particularly children, be protected from malaria by appropriate prophylaxis.PMCID: PMC3499995 Free PMC Article
PMID: 23170194 [PubMed - in process]
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2. J Hosp Med. 2012 Nov 20. doi: 10.1002/jhm.1987. [Epub ahead of print]"I'm Talking About Pain": Sickle cell disease patients with extremely high hospital use.Weisberg D, Balf-Soran G, Becker W, Brown SE, Sledge W.Department of Psychiatry, Yale University School of Medicine, New Haven, Connecticut.AbstractBACKGROUND: A small minority of sickle cell disease patients accounts for the majority of inpatient hospital days. Admitted as often as several times a month, over successive years, this cohort of patients has not been studied in depth despite their disproportionate contribution to inpatient hospital costs in sickle cell disease.OBJECTIVE: To characterize the subjective experience of extremely high hospital use in patients with sickle cell disease, and generate hypotheses about the antecedents and consequences of this phenomenon.DESIGN: Qualitative study involving in-depth, open-ended interviews using a standardized interview guide.SETTING: A single urban academic medical center.PARTICIPANTS: Eight individuals, of varying age and gender, identified as the sickle cell disease patients who are among the highest hospital use patients over a 3-year period.RESULTS: A common narrative emerged from the interview transcripts. Participants were exposed to the hospital environment and intravenous (IV) opioids at a young age, and this exposure was associated with extremely high hospital use in adulthood, evident in descriptions of multiple dimensions of their lives: pain and opioid medication use, interpersonal relationships, and personal development.CONCLUSIONS: Our results suggest a systematic, self-reinforcing process of isolation from mainstream society, support structures, and caregivers, based on increasing hospitalization, growing dependency on opioid medications, as well as missed developmental milestones. Further study and interventions should be geared towards breaking this spiraling cycle with long-term strategies in disease management and social integration. Journal of Hospital Medicine 2012; © 2012 Society of Hospital Medicine.Copyright © 2012 Society of Hospital Medicine. PMID: 23169484 [PubMed - as supplied by publisher]
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3. Cochrane Database Syst Rev. 2012 Nov 14;11:CD008394. doi: 10.1002/14651858.CD008394.pub2.Interventions for treating leg ulcers in people with sickle cell disease.Martí-Carvajal AJ, Knight-Madden JM, Martinez-Zapata MJ.Facultad de Ciencias de la Salud Eugenio Espejo, Universidad Tecnológica Equinoccial, Quito, Ecuador.AbstractBACKGROUND: The frequency of skin ulceration makes it an important contributor to the morbidity burden in people with sickle cell disease. Many treatment options are available to the healthcare professional, although it is uncertain which treatments have been assessed for effectiveness in people with sickle cell disease.OBJECTIVES: To assess the clinical effectiveness and safety of interventions for treating leg ulcers in people with sickle cell disease.SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Haemoglobinopathies Trials Register.We searched LILACS (1982 to August 2012), the African Index Medicus (up to August 2012), ISI Web of Knowledge (1985 to August 2012), and the Clinical Trials Search Portal of the World Health Organization (August 2012). We checked the reference lists of all the trials identified. We also contacted those groups or individuals who may have completed relevant randomised trials in this area.Date of the last search of the Group's Haemoglobinopathies Trials Register: 25 May 2012.SELECTION CRITERIA: Randomised controlled trials of interventions for treating leg ulcers in people with sickle cell disease compared to placebo or an alternative treatment.DATA COLLECTION AND ANALYSIS: Two authors independently selected studies for inclusion. All three authors independently assessed the risk of bias of the included studies and extracted data.MAIN RESULTS: Six studies met the inclusion criteria (198 participants with 250 ulcers). Each trial investigated a different intervention and within this review we have grouped these as systemic pharmaceutical interventions (L-cartinine, arginine butyrate, isoxsuprine) and topical pharmaceutical interventions (Solcoseryl(®) cream, RGD peptide dressing, topical antibiotics). Three interventions reported on the change in ulcer size (arginine butyrate, RGD peptide, L-cartinine). Of these, RGD peptide matrix significantly reduced ulcer size compared with a control group, mean reduction 6.60cm(2) (95% CI 5.51 to 7.69). Three trials reported on the incidence of complete closure (isoxsuprine, arginine butyrate, RGD peptide matrix). None reported a significant effect. No trial reported on: the time to complete ulcer healing; ulcer-free survival following treatment for sickle cell leg ulcers; quality of life measures; or incidence of amputation. There was no reported information on the safety of these interventions.AUTHORS' CONCLUSIONS: There is evidence that a topical intervention (RGD peptide matrix) reduced ulcer size in treated participants compared to controls. This evidence of efficacy is limited by the generally high risk of bias associated with these reports.We planned to analyse results according to general groups: pharmaceutical interventions (systemic and topical); and non-pharmaceutical interventions (surgical and non-surgical). However, we were unable to pool findings due to the heterogeneity in outcome definitions, and inconsistency between the unit of randomisation and the unit of analysis. This heterogeneity, along with a paucity of identified trials, prevented us performing any meta-analyses.This Cochrane review provides some evidence for the effectiveness of one topical intervention - RGD peptide matrix. However, this intervention was assessed as having a high risk of bias due to inadequacies in the single trial report. Other included studies were also assessed as having a high risk of bias. We recommend that readers interpret the trial results with caution. The safety profile of the all interventions was inconclusive. PMID: 23152256 [PubMed - in process]
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4. Cochrane Database Syst Rev. 2012 Nov 14;11:CD007652. doi: 10.1002/14651858.CD007652.pub3.Gene therapy for sickle cell disease.Olowoyeye A, Okwundu CI.Lagos University Teaching Hospital, P.O.Box 8893 Marina, Lagos, Nigeria.AbstractBACKGROUND: Sickle cell disease encompasses a group of genetic disorders characterized by the presence of at least one hemoglobin S (Hb S) allele, and a second abnormal allele that could allow abnormal hemoglobin polymerisation leading to a symptomatic disorder.Autosomal recessive disorders (such as sickle cell disease) are good candidates for gene therapy because a normal phenotype can be restored in diseased cells with only a single normal copy of the mutant gene.OBJECTIVES: The objectives of this review are:- to determine whether gene therapy can improve survival and prevent symptoms and complications associated with sickle cell disease;- to examine the risks of gene therapy against the potential long-term gain for people with sickle cell disease.SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Haemoglobinopathies Trials Register, which comprises of references identified from comprehensive electronic database searches and searching relevant journals and abstract books of conference proceedings.Date of the most recent search of the Group's Haemoglobinopathies Trials Register: 21 June 2012.SELECTION CRITERIA: All randomised or quasi-randomised clinical trials (including any relevant phase 1, 2 or 3 trials) of gene therapy for all individuals with sickle cell disease, regardless of age or setting.DATA COLLECTION AND ANALYSIS: No trials of gene therapy for sickle cell disease were found.MAIN RESULTS: No trials of gene therapy for sickle cell disease were reported.AUTHORS' CONCLUSIONS: No randomised or quasi-randomised clinical trials of gene therapy for sickle cell disease were reported. Thus, no objective conclusions or recommendations in practice can be made on gene therapy for sickle cell disease. This systematic review has identified the need for well-designed, randomised controlled trials to assess the benefits and risks of gene therapy for sickle cell disease.
PMID: 23152248 [PubMed - in process]
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5. Pediatr Blood Cancer. 2012 Nov 14. doi: 10.1002/pbc.24394. [Epub ahead of print]Mental health disorders influence admission rates for pain in children with sickle cell disease.Myrvik MP, Burks LM, Hoffman RG, Dasgupta M, Panepinto JA.Department of Pediatrics, Hematology/Oncology/Bone Marrow Transplantation, Children's Research Institute/Medical College of Wisconsin, Milwaukee, Wisconsin. mmyrvik@mcw.edu.AbstractBACKGROUND: Patients with sickle cell disease (SCD) experience a broad range of mental health disorders placing them at risk for more complicated hospitalizations for pain. The current study examined the impact of mental health disorders on admission rates and hospital length of stay (LOS) for vaso-occlusive pain events (VOE) in pediatric patients with SCD.PROCEDURE: Patients (5-18 years old) with a primary discharge diagnosis of SCD with crisis were acquired through the Pediatric Health Information System and categorized by history of mental health disorders (mood disorder, anxiety disorder, disruptive behavior disorder, and substance use disorder). Using a retrospective cohort design, hospital admission rates for VOE were examined as the primary outcome and LOS as a secondary outcome.RESULTS: A total of 5,825 patients accounted for 23,561 admissions for SCD with crisis with approximately 8% of the patients having a mental health diagnosis. Longer LOS was found among patients with a history of any mental health diagnosis (P < 0.0001) and within the mood disorder (P < 0.0001), anxiety disorder (P < 0.0001), and substance use disorder (P = 0.01) subtypes. Hospital admissions rates for VOE were higher among patients with a history of any mental health diagnosis (P < 0.0001) and within the mood disorder (P < 0.0001), anxiety disorder (P < 0.0001), disruptive behavior disorder (P = 0.002), and substance use disorder (P < 0.0001) subtypes.CONCLUSIONS: Pediatric patients with SCD and a history of a mental health diagnosis have longer LOS and higher admission rates for management of VOE. Ultimately, these findings suggest that mental health pose a challenge to the management of sickle cell pain. Pediatr Blood Cancer © 2012 Wiley Periodicals, Inc.Copyright © 2012 Wiley Periodicals, Inc.
PMID: 23151972 [PubMed - as supplied by publisher]
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6. Pediatr Blood Cancer. 2012 Nov 14. doi: 10.1002/pbc.24392. [Epub ahead of print]National trends in incidence rates of hospitalization for stroke in children with sickle cell disease.McCavit TL, Xuan L, Zhang S, Flores G, Quinn CT.Division of Pediatric Hematology-Oncology, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas; Children's Medical Center Dallas, Dallas, Texas. tim.mccavit@childrens.com.AbstractBACKGROUND: The success of primary stroke prevention for children with sickle cell disease (SCD) throughout the United States is unknown. Therefore, we aimed to generate national incidence rates of hospitalization for stroke in children with sickle cell disease (SCD) before and after publication of the Stroke Prevention Trial in Sickle Cell Anemia (STOP trial) in 1998.PROCEDURE: We performed a retrospective trend analysis of the 1993-2009 Nationwide Inpatient Sample and Kids' Inpatient Databases. Hospitalizations for SCD patients 0-18 years old with stroke were identified by ICD-9CM code. The primary outcome, the trend in annual incidence rate of hospitalization for stroke in children with SCD, was analyzed by linear regression. Incidence rates of hospitalization for stroke before and after 1998 were compared by the Wilcoxon rank-sum test.RESULTS: From 1993 to 2009, 2,024 hospitalizations were identified for stroke. Using the mean annual incidence rate of hospitalization for stroke from 1993 to 1998 as the baseline, the rate decreased from 1993 to 2009 (point estimate = -0.022/100 patient years [95% CI, -0.039, -0.005], P = 0.027). The mean annual incidence rate of hospitalization stroke decreased by 45% from 0.51 per 100 patient years in 1993-1998 to 0.28 per 100 patient years in 1999-2009 (P = 0.008). Total hospital days and charges attributed to stroke also decreased by 45% and 24%, respectively.CONCLUSIONS: After publication of the STOP trial and hydroxyurea licensure in 1998, the incidence of hospitalization for stroke in children with SCD decreased across the United States, suggesting that primary stroke prevention has been effective nationwide, but opportunity for improvement remains. Pediatr Blood Cancer © 2012 Wiley Periodicals, Inc.Copyright © 2012 Wiley Periodicals, Inc.
PMID: 23151905 [PubMed - as supplied by publisher]
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Sickle Cell News for October 2012
Researchers identify painful symptoms of sickle cell disease
Researchers at Drexel University have identified the physical forces in red blood cells and blood vessels underlying the painful symptoms of sickle cell disease. Their experiment, the first to answer a scientific question about sickle cell disease using microfluidics engineering methods, may help future researchers better determine who is at greatest risk of harm from the disease. They report their findings in Cell Press'sBiophysical Journal today. Like many scientific questions, this discovery began with a mystery. Normal, healthy red blood cells are extremely flexible, squeezing and slipping through blood vessels with ease, even passing through the smallest capillaries that are narrower than the red blood cells themselves. But in sickle cell disease, red blood cells are prone to deforming and turning rigid while flowing through the body. A seemingly logical explanation for sickle cell disease was that its symptoms - painful episodes and organ damage caused by oxygen deprivation - resulted from the rigid sickle cells forming inside narrow capillaries and then getting stuck there. In fact, sickle cells do not get stuck inside capillaries. The symptoms of sickle cell disease come from partial obstructions in slightly wider blood vessels farther downstream-vessels wide enough that sickle cells should be wide enough to flow through. The mystery, then, was why? How do wide, rigid cells regularly pass through the narrowest channels without getting stuck?http://www.news-medical.net/news/20121018/Researchers-identify-painful-symptoms-of-sickle-cell-disease.aspx
1% Of Kuwait Population Has Sickle Cell Disease
DESPITE its being one of the most commonly inherited genetic disorders on earth, there is a far-reaching lack of awareness of Sickle Cell Disease and its effects, in a case where awareness may be all it takes to for the prevention of potentially tragic results. Moreover, being that SCD is common around tropics where malaria is prevalent, the Arabian Peninsula is one of the areas commonly afflicted with SCD, with a rate of approximately 1% of the Kuwait population suffering -- in many cases unknowingly -- from the disease. New Day Hospital in UK
After years of planning, Thursday 18 October sees the opening of a day care centre at Homerton Hospital for sufferers of both Sickle Cell Anemia and Thassalmania.
It’s the most serious of inherited conditions in the UK, yet it is the least known about and Homerton Hospital already manages over 300 local patients with the condition, while providing advice and support for those who aren’t themselves affected but ‘carry’ the condition, and could pass it on to their children. In England alone, there are approximately 12,500 people who suffer from this disease and an estimated 240,000 carriers of sickle cell in England http://www.hackneyhive.co.uk/index/2012/10/homerton-hospital-to-open-sickle-cell-day-care-centre/ New Sickle Cell Clinic in Missouri
University of Missouri Health Care is opening a new clinic to treat patients with sickle cell disease. The clinic will be open the second and fourth Thursdays of every month.
Sickle cell is a genetic disease where red blood cells are in short supply. According to Children’s Mercy Hospital, most of the treatment centers are aimed toward children. Elizabeth Gunier, a sickle cell coordinator at Women's and Children's Hospital's blood disorder and cancer unit, says the new clinic is specifically for adults.
“This is the first time since I’ve been here that we are able to set up an adult clinic, just specifically for them," she says. "It’s something that’s been in the works, something that everybody’s wanted to do.”
The clinic is set to open at Ellis Fischel Cancer Center on Oct. 25, 2012. It is the first such clinic in Columbia. Others are located in St. Louis and Kansas City Tionne "T-Boz" Watkins, a member of the 1990s R&B trio TLC, is getting her own reality show, TMZ reports. The show, called Totally T-Boz, will showcase Watkins juggling being a single mom with attempting to re-launch her music career, sources tell TMZ . The show will air on (what else?) TLC, which has reportedly ordered four episodes.
Watkins was diagnosed with sickle-cell anemia as a child and is a spokesperson for the Sickle Cell Disease Association of America. In 2006, she discovered that she had a potentially fatal brain tumor, which was removed in 2009. After the surgery, Watkins underwent therapy to re-learn how to walk and talk, according to TMZ.
Watkins filed for bankruptcy protection twice in 2011, but TLC recently announced plans for a reunion tour that will feature a hologram of Lisa "Left-Eye" Lopes, who died in a car accident in 2002.
http://www.tvguide.com/News/TLCs-Boz-Reality-Show-1054028.aspx
Video Resources
New Webinar Posted for October
:Improving Quality of Care for Sickle Cell Pediatrics in the Emergency Department Dr. James Moses, Boston Medical Center 9/27/12 The video link is mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDCMoses.wmv
Schedule of Free CDC 2012 Webinars
“Public Health Webinar Series on Hemoglobinopathies”
Hosted by: The Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities (NCBDDD), Centers for Disease Control and Prevention (CDC) 4th Thursday of every month from 2:00PM – 3:00PM ET The purpose of this webinar series is to offer a hemoglobinopathies learning collaborative platform for providers, consumers, educators, and scientists.
Hemoglobinopathy Webinars are archived at http://scinfo.org
To Join The Webinar
Copy this address and paste it into your web browser:https://www.livemeeting.com/cc/cdc/join
Copy and paste the required meeting ID: 84QK2D and click “join”.
First Time Users: To save time before the meeting, check your system to make sure it is ready to use Microsoft Office Live Meeting. To hear the presentation you must call in to the number below.
For Audio
Dial 1-877-953-6706 and enter participant code: 9706616
If you are unable to join us on the internet for viewing, you are welcome to call in for audio access only. Participants outside the United States must be able to access 800 numbers to the US. Otherwise, please RSVP the location and number of participants for alternative international conference line access. 10/25: Strategies from the Field – Data Collection and HarmonizationCDC’s Division of Blood Disorders and RuSH Project States
November/December: --- No Webinars---
See all the previous CDC Sickle Cell Webinars and instructions to view or listen to future events see: http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-health
New Web Resource
NHS Sickle Cell and Thalassaemia Screening Programme Resources
Adult Carrier Leaflets:
Adults who attend antenatal screening will receive an Adult Carrier Leaflet with information about being a carrier of a significant haemoglobin variant to assist them in their understanding of their haemoglobin carrier status. These leaflets can be used in an antenatal setting as well as in other settings such as in a GP surgery or other healthcare centres.
The leaflets cover the carrier states Hb AS, Hb AC, Hb AD, Hb AE, Beta Thalassaemia, Delta beta thalassaemia, O Arab, and Hb Lepore and can be downloaded at sct.screening.nhs.uk/adultcarrierleaflets
NICE Guidelines:
The Sickle Cell Acute Painful Episode are published and are available on the National Institute for Health and Clinical Excellence (NICE) websitehttp://www.nice.org.uk/CG143
You can find the consultation comments and responses on this page:http://guidance.nice.org.uk/CG/Wave24/6 See all the publications at http://sct.screening.nhs.uk/
CDC Web based Sickle Cell Resources
CDC’s YouTube Link: http://www.youtube.com/watch?v=gnrvYsZWR1c&list=UUiMg06DjcUk5FRiM3g5sqoQ&index=2&feature=plpp_video CDC Video Archive (you can get the video code from this site and embed the video on another webpage, or download it):http://www.cdc.gov/NCBDDD/video/SickleCell/index.html
CDC Sickle Cell Disease Webpage: http://wwwdev.cdc.gov/NCBDDD/sicklecell/video.html
Articles in the Medical Literature for October
1. Bone. 2012 Oct 13. pii: S8756-3282(12)01312-9. doi: 10.1016/j.bone.2012.10.005. [Epub ahead of print]
Relationship between vitamin D deficiency and bone fragility in sickle cell disease: A cohort study of 56 adults. Arlet JB, Courbebaisse M, Chatellier G, Eladari D, Souberbielle JC,Friedlander G, de Montalembert M, Prié D, Pouchot J, Ribeil JA. Source
Service de médecine interne, Faculté de médecine Paris Descartes, Sorbonne Paris-Cité et Assistance publique - hôpitaux de Paris, hôpital européen Georges Pompidou, 75908 Paris, France. Electronic address:jean-benoit.arlet@egp.aphp.fr.
Abstract
BACKGROUND:
Recent studies suggest that patients with sickle cell disease (SCD) have profound vitamin D (VD) deficiency. Limited data exist on the effect of VD deficiency on bone fragility in these patients.
OBJECTIVES:
To assess the prevalence of VD deficiency in adults with SCD and its consequences on bone metabolism and fragility.
METHODS:
This prospective study included 56 SCD adult patients (mean age 29.8±9.5years), in a clinically steady state. Clinical and laboratory data were recorded. Bone mineral density (BMD) was measured using dual X-ray absorptiometry. Fracture history, BMD, avascular osteonecrosis, H-shaped vertebra and markers of mineral metabolism were compared between two groups of patients presenting very low (≤6ng/ml, n=26) (group 1) and low (>6ng/ml, n=26) (group 2) 25(OH)D concentration, respectively.
RESULTS:
Median 25(OH)D concentration was 6ng/mL. VD deficiency (25(OH)D <10ng/mL) was found in 42 out of 56 patients (75%) and secondary hyperparathyroidism in 40 (71.4%). History of fracture was documented in 17 patients (30.3%), osteopenia and/or ospeoporosis in 39.6% of patients. Overall, patients of group 1 were more likely to have sustained a fracture (42.8%) compared to patients of group 2 (17.8%) (p=0.04). These patients had also lower body mass index and significantly higher parathyroid hormone, C-terminal telopeptides of type I-collagen and bone-specific alkaline phosphatase serum levels. There was no difference between group for BMD, avascular osteonecrosis history, H-shaped vertebra, and disease severity markers.
CONCLUSION:
This study suggests that VD deficiency is a key feature in SCD-bone disease. It is highly prevalent and associated with hyperparathyroidism, bone resorption markers, and history of fracture. The optimal supplementation regimen remains to be determined.
Copyright © 2012. Published by Elsevier Inc.
PMID: 23072921 [PubMed - as supplied by publisher]
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2. Am J Epidemiol. 2012 Oct 1;176 Suppl 7:S175-85. doi: 10.1093/aje/kws323. Sickle Cell Trait Protects Against Plasmodium falciparum Infection.
Billo MA, Johnson ES, Doumbia SO, Poudiougou B, Sagara I, Diawara SI, Diakité M, Diallo M, Doumbo OK, Tounkara A, Rice J, James MA,Krogstad DJ. Abstract
Although sickle cell trait protects against severe disease due to Plasmodium falciparum, it has not been clear whether sickle trait also protects against asymptomatic infection (parasitemia). To address this question, the authors identified 171 persistently smear-negative children and 450 asymptomatic persistently smear-positive children in Bancoumana, Mali (June 1996 to June 1998). They then followed both groups for 2 years using a cohort-based strategy. Among the 171 children with persistently negative smears, the median time for conversion to smear-positive was longer for children with sickle trait than for children without (274 vs. 108 days, P < 0.001; Cox hazard ratio = 0.56, 95% confidence interval: 0.33, 0.96; P = 0.036). Similar differences were found in the median times to reinfection after spontaneous clearance without treatment (365 days vs. 184 days; P = 0.01). Alternatively, among the 450 asymptomatic children with persistently positive smears, the median time for conversion to smear-negative (spontaneous clearance) was shorter for children with sickle trait than for children without (190 vs. 365 days; P = 0.02). These protective effects of sickle trait against asymptomatic P. falciparum infection under conditions of natural transmission were demonstrable using a cohort-based approach but not when the same data were examined using a cross-sectional approach. PMID: 23035141 [PubMed - in process]
Related citations
3. J Blood Med. 2012;3:105-12. doi: 10.2147/JBM.S32588. Epub 2012 Sep 19.
Barriers in transition from pediatrics to adult medicine in sickle cell anemia.
Lebensburger JD, Bemrich-Stolz CJ, Howard TH.
Source
Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL, USA.
Abstract
Transition of care from pediatric to adult providers is an essential step in the care of young adults with sickle cell anemia. Transition programs should be developed by individual institutions to systematically enhance the transition process for their patients. Prior to transfer, patients must be educated about their disease and personal medical history and develop skill sets required to navigate the adult health care setting. The objective of this literature review is to identify key concepts associated with transition of care for patients with sickle cell anemia. First, transition programs should be developed so that education about transition can begin at an early age. The readiness of patients and families should be assessed and education tailored to meet individual patient needs. Finally, the emotions and fears about transition should be recognized and addressed prior to transition.
PMCID: PMC3460672 Free PMC Article
PMID: 23055784 [PubMed]
Related citations
4. Rev Bras Hematol Hemoter. 2012;34(4):270-4. doi: 10.5581/1516-8484.20120070.
The burden and quality of life of caregivers of sickle cell anemia patients taking hydroxyurea versus those not taking hydroxyurea. da Silva LB, Ivo ML, de Souza AS, Pontes ER, Pinto AM, de Araujo OM.
Source Universidade Federal de Mato Grosso do Sul - UFMS, Campo Grande, MS, Brazil.
Abstract
OBJECTIVE:
To assess the burden and quality of life of caregivers of patients with sickle cell anemia taking hydroxyurea versus those of patients not taking hydroxyurea. METHODS:
A cross-sectional study was performed of caregivers of outpatients with sickle cell anemia in two public hospitals in Campo Grande, MS, from January through June 2010. The World Health Organization Quality of Life-BREF Scale and the Caregiver Burden Scale were used.
RESULTS:
Of the 37 caregivers in this study, 81.1% were women, 73.0% were mothers, 59.5% were married, 54.1%were mulattos, 48.6% were housewives, 54.1% had family incomes of up to one minimum wage and 75.7% had onlycompleted elementary education. The mean duration of care provided (time after diagnosis) was 16.08 ± 9.88 yearsand 89.2% reported that they provided 24-hour care. Regarding health, 27.0% of study participants reported having physical and 13.5% emotional problems. There were no significant relationships between these variables either with the different domains or the total score of the WHOQOL-BREF comparing caregivers of patients taking hydroxyurea versusthose of patients not taking hydroxyurea. There was a moderate negative linear correlation between the WHOQOL-BREF and the Caregiver Burden Scale scores (linear correlation test of Pearson: p-value = 0.003, r = -0.477). The burden of caregivers of patients who did not take hydroxyurea was significantly higher than those of patients who took the medication in terms of general tension, disappointment, environment and total score (student t-test: p-value < 0.05).
CONCLUSION:
In the perception of the caregiver, looking after sickle cell anemia patients represents a moderate negative burden.
PMCID: PMC3460397 Free PMC Article
PMID: 23049439 [PubMed]
Related citations
5. Rev Bras Hematol Hemoter. 2012;34(3):178-9. doi: 10.5581/1516-8484.20120042.
Is sickle cell disease the same everywhere?
Hankins J.
Source
St. Jude Children's Research Hospital Memphis, TN, USA.
PMCID: PMC3459638 Free PMC Article
PMID: 23049412 [PubMed - in process]
Related citations
6. Rev Bras Hematol Hemoter. 2012;34(3):175-7. doi: 10.5581/1516-8484.20120041.
Sickle cell disease: looking back but towards the future.
Cançado RD.
Source
Faculdade de Ciências Médicas da Santa Casa de São Paulo - FCMSCSP, SP, Brazil.
PMCID: PMC3459630 Free PMC Article
PMID: 23049411 [PubMed - in process]
Related citations
7. Curr Opin Ophthalmol. 2012 Nov;23(6):533-6. doi: 10.1097/ICU.0b013e328358b921.
Ophthalmic manifestations of sickle cell disease: update of the latest findings.
Lim JI.
Source
Department of Ophthalmology, University of Illinois at Chicago, Chicago, Illinois, USA.
Abstract
PURPOSE OF REVIEW:
Recent developments in the diagnosis and management of sickle cell ocular manifestations are reviewed to enable the clinician to better manage the ophthalmic care of these patients.
RECENT FINDINGS:
Research over the past year has focused upon systemic and ocular clues to the presence of sickle cell retinopathy. In addition, newer imaging modalities, such as spectral domain optical coherence tomography and wide-field imaging, have resulted in the detection of subclinical retinopathy related to sickle cell disease. Decreased retinal function (via microperimetry testing) has also been detected in association with areas of retinal thinning. Identification of these ocular and systemic factors that are associated with sickle cell retinopathy will help identify those patients who most need to be screened for sickle cell retinopathy. SUMMARY:
The awareness of subclinical disease as well as the identification of systemic factors associated with higher prevalence of sickle cell retinopathy will aid the clinician in identifying those patients who are at higher risk of retinopathy.
PMID: 23047170 [PubMed - in process]
Related citations
8. Br J Haematol. 2012 Oct 4. doi: 10.1111/bjh.12061. [Epub ahead of print]
Challenges of alloimmunization in patients with haemoglobinopathies.
Chou ST, Liem RI, Thompson AA.
Source
Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Abstract
Red blood cell (RBC) transfusions can be life-sustaining in chronic inherited anaemias, such as thalassaemia, and the indications for blood transfusions in patients with sickle cell disease continue to expand. Complications of transfusions, such as allosensitization, can create significant medical challenges in the management of patients with haemoglobinopathies. This review summarizes key findings from the medical literature related to alloimmunization in haemoglobinopathies and examines potential measures to mitigate these risks. Areas where future studies are needed are also addressed. © 2012 Blackwell Publishing Ltd.
PMID: 23034087 [PubMed - as supplied by publisher]
Related citations
9. J Fam Pract. 2012 Sep;61(9 Suppl):S5-8.
Chronic Pain Perspectives: Sickle cell disease: Gaining control over the pain.
Gregory TB.
Source
Department of Pharmacy, Truman Medical Centers, Kansas City, MO, USA.
Abstract
Ongoing adjustments to the medication regimen and careful attention to lifestyle and support systems are critical to helping patients manage the pain of sickle cell disease.
PMID: 23000669 [PubMed - in process]
Related citations
10. Pediatrics. 2012 Oct 1. [Epub ahead of print]
Transition and Sickle Cell Disease. Debaun MR, Telfair J. Source
Department of Pediatrics, Vanderbilt University School of Medicine and Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, Tennessee; and. Abstract
Sickle cell disease (SCD), the most common genetic disease screened for in the newborn period, occurs in ∼1 in 2400 newborns in the general population and 1 in 400 individuals of African descent in the United States. Despite the relative high prevalence and low pediatric mortality rate of SCD when compared with other genetic diseases or chronic diseases in pediatrics, few evidence-based guidelines have been developed to facilitate the transition from pediatrics to an internal medicine or family practice environment. As with any pediatric transition program, common educational, social, and health systems themes exist to prepare for the next phase of health care; however, unique features characterizing the experience of adolescents with SCD must also be addressed. These challenges include, but are not limited to, a higher proportion of SCD adolescents receiving public health insurance when compared with any other pediatric genetic or chronic diseases; the high proportion of overt strokes or silent cerebral infarcts (∼30%) affecting cognition; risk of low high school graduation; and a high rate of comorbid disease, including asthma. Young adults with SCD are living longer; consequently, the importance of transitioning from a pediatric primary care provider to adult primary care physician has become a critical step in the health care management plan. We identify how the primary care physicians in tandem with the pediatric specialist can enhance transition interventions for children and adolescents with SCD.
PMID: 23027174 [PubMed - as supplied by publisher]
Sickle Cell Conferences and Events
West Coast Sickle Cell Nurses Conference Friday, October 26, 2012Presented by
Children's Hospital Los Angeles -Improving Outcomes for Children and Adults
with Sickle Cell Disease Location: John Stauffer Conference Room Children's Hospital Los Angeles Registration fee: $45.00 5 CEU's Lunch provided Please note, this is a NURSES ONLY conference.
For adults and parents, please provide this information to your nurse or health care provider. For more information, contact Trish Peterson attpeterson@chla.usc.edu
or Debbie Harris at dharris@chla.usc.edu
Caribbean Sickle Cell Conference in Saint Lucia from October 26 to 28, 2012, at the Bay Gardens Hotel
The Caribbean Organization of Sickle Cell Associations (COSCA), with the Saint Lucia Sickle Cell Association, the Saint Lucia Medical and Dental Association, and the University of the West Indies Medical School (Cave Hill), will be hosting the eighth Caribbean Sickle Cell Conference in Saint Lucia from October 26 to 28, 2012, at the Bay Gardens Hotel.
In attendance will be medical practitioners, government representatives, sickle cell patients and support personnel from the region and internationally. Speakers will come from Canada, the United States, Jamaica, Martinique, Guadeloupe and Saint Lucia.
Several topics will be discussed, including the prevention of sickle cell disease, research on bone marrow transplant, stroke prevention and management, the socio- economic and policy impact of sickle cell disease (SCD), the Sick Kids Caribbean haematology-oncology outreach programme, Caribbean sickle cell experience, pain management, ethical dilemmas and social issues.
the Cuban Society of Hematology VII National Congress for the Spring of 2013 (May 20-24) at the Havana International Conference Center, under the name of HEMATOLOGIA 2013. Toghether with this event, we will be celebrating the III Caribbean Conference on Sickle Cell Disease (from CAREST), as well as the IX Latinamerican Meeting on Hematology, Immunology and Transfusion Medicine, the IV International Workshop on Hemophilia, and the III Internatioal Symposium of Regenerative Medicine.
emails: hematologia2013@infomed.sld.cu, mailto:ihi@infomed.sld.cu,aliciagarcia@palco.cu
7th Annual Sickle Cell Disease Research and Educational Symposium & Annual National Sickle Cell Disease Scientific meeting April 12 – 17, 2013 Miami, FL http://www.florida-sickle.org/
Sickle Cell News for September 2012

September is Sickle Cell Month
WISCH (Working to Improve Sickle Cell Healthcare)
WISCH (Working to Improve Sickle Cell Healthcare) is NICHQ’s portfolio of projects focused on improving the quality of care for individuals with sickle cell disease across the lifespan. These projects include the Sickle Cell Disease Newborn Screening Program and the Sickle Cell Disease Treatment Demonstration Program, both of which are funded through the Health Resources and Services Administration (HRSA).
NICHQ is working with 15 grantee sites through two HRSA-funded projects to improve systems of detection and care for people living with SCD. Teams made up of healthcare providers, patients, hematologists, nurses and others are using quality improvement techniques to implement:
Timely acute care management
Better coordination of care
Better transition from pediatric to adult care
Improved screening, counseling, and education for individuals with SCD and trait
Enhanced education for providers on treating, assessing and monitoring SCD
WISCH Overview Video at https://vimeo.com/49602847
Q&A with Lynnie Reid, NICHQ’s Senior Manager of Patient and Family Partnerships
Lynnie Reid went from being a young mother who knew nothing about sickle cell disease to becoming a passionate champion for people affected by the blood disorder.
"Hemoglobinopathy Learning Collaborative: Using Quality Improvement (QI) to Achieve Equity in Health Care Quality, Coordination, and Outcomes for Sickle Cell Disease" [Journal Article]
This journal article centers on NICHQ's Working to Improve Sickle Cell Healthcare (WISCH) project, which seeks to improve outcomes and care across the life course through improvement science for individuals living with sickle cell disease (SCD).
The authors would like to acknowledge the contribution of improvement teams who participated in the expert panel meeting to review and rate indicators and to provide feedback on the feasibility of collecting data for project indicators.
Note: The full text of this article is being shared with the permission of Meharry Medical College and the Journal of Health Care for the Poor and Underserved (JHCPU).
Citation: Oyeku SO, Wang JC, Scoville R, Vanderkruik R, Clermont E, McPherson ME, Adams WG, and Homer CJ. "Hemoglobinopathy Learning Collaborative: Using Quality Improvement (QI) to Achieve Equity in Health Care Quality, Coordination, and Outcomes for Sickle Cell Disease." Journal of Health Care for the Poor and Underserved. Volume 23 (2012): 34–48.
Access the full article from the Journal of Health Care for the Poor and Underserved. Treating Pain More Quickly for Children with Sickle Cell Disease at Boston Medical Center Hospital uses quality improvement techniques to cut the wait to pain medications in half.
New Tennessee Center Offers Affordable Care to Sickle Cell Patients A team of healthcare specialists is working to coordinate care, reduce ER visits, and spread awareness
Partially-matched bone marrow transplants can eliminate sickle cell disease in some patients In a preliminary clinical trial, investigators at Johns Hopkins have shown that even partially-matched bone marrow transplantscan eliminate sickle cell disease in some patients, ridding them of painful and debilitating symptoms, and the need for a lifetime of pain medications and blood transfusions. The researchers say the use of such marrow could potentially help makebone marrow transplants accessible to a majority of sickle cell patients who need them. After a median follow-up of two years, the transplants successfully eliminated sickle cell disease in 11 of 17 patients. Three were fully matched to their donors and eight received half-matched donor marrow. All 11 patients are free of painful sickle cell crises and 10 no longer have anemia. There were no deaths and no unexpected toxicities.
Six of the 11 patients (all half-matched) have stopped taking immunosuppressive drugs, although some still require narcotics for chronic pain because of sickle cell-related organ damage. Blood tests on the six patients show that their red cells are now completely derived from their donor’s marrow. Patients with severe sickle cell disease (SCD) face shortened life spans, intractable pain and eventual organ damage as a result of their disease, an inherited disorder caused by a mistake in the oxygen-carrying hemoglobin molecules in red blood cells. The flawed genetic code stiffens red cells, and shapes them into a pronged “sickle” that clump and stick into blood vessel walls, cutting off blood and oxygen to tissues and organs throughout the body. SCD occurs in approximately one in 400 African Americans, and rarely in Caucasians. An estimated 100,000 people are currently living with sickle cell disease in the U.S.
Most patients die before age 50, and many suffer poor quality of life with frequent episodes of “off-the-charts” pain, and an increased risk for kidney failure, stroke, deep-vein thrombosis, and lung disease.
Treatments include blood transfusions and a drug, hydroxyurea. Many patients use narcotics to control severe pain and have repeat hospitalizations. Bone marrow transplants have been successful in curing some cases, but matching donors are rare and the procedure itself poses risk. In the current study, 17 patients at the Johns Hopkins Hospital were offered bone marrow transplant options, including the use of half-matched donor marrow to try and replace their “sickled” blood cells with new, healthy ones. The transplants were successful in 11 of the patients, of whom eight were only half-matches. Results of the trial were published in the Sept. 6 early online edition of Blood.
“We’re trying to reformat the blood system and give patients new blood cells to replace the diseased ones, much like you would replace a computer’s circuitry with an entirely new hard drive,” says Robert Brodsky, M.D., director of the Division ofHematology at Johns Hopkins and The Johns Hopkins Family Professor of Medicine and Oncology. “While bone marrow transplants have long been known to cure sickle cell disease, only a small percentage of patients have fully matched, eligible donors.”
National registries often are of little help in finding donors for sickle cell patients, because most of those in need are African American and other minorities who are vastly underrepresented in registries, say the Johns Hopkins researchers.
To overcome the shortage of donors, investigators at Johns Hopkins developed techniques, recently tested in leukemia andlymphoma patients, to transplant with bone marrow that is half-identical or “haploidentical” to the patient’s tissue type. Half-matched bone marrow can be obtained from parents, children and most siblings, and is extracted by needle from the hip bone.
For the study, the Johns Hopkins team screened 19 patients to find bone marrow donors with either half-identical or fully matched tissue. Each transplant candidate had experienced many severe pain crises, significant organ problems, or had failed hydroxyruea, the only drug known to curtail sickle cell symptoms. The team found donors for 17 of the 19 patients: 14 were half-identical and three were fully matched siblings. The youngest patient was 15; the oldest 46. Novartis has taken an option to buy a novel drug for sickle cell disease, as well as the US biotech company that developed it, in a deal valued at up to $665m in upfront, acquisition and milestone payments.
Oklahoma-based Selexys Pharmaceuticals has just completed a $23m equity financing to help fund the next stage of development of the drug, which is an anti-P-selectin antibody called SelG1.
And Novartis has taken an exclusive option to acquire Selexys and SelG1 after the completion of a phase II study in patients with sickle cell disease, a condition in which red blood cells form an abnormal sickle or crescent shape.
The deformation of the red blood cells causes them to stiffen so they cannot pass through small blood vessels so easily, which in turn prevents oxygen from being delivered to tissues. In severe episodes - known as vaso-occlusive crises - the blood vessels become obstructed leading to ischaemia, pain and organ damage.
"Patients with sickle cell disease endure great suffering and frequent hospitalisation due to painful vaso-occlusive crises," said Selexys' president and chief executive Dr Scott Rollins.
The company developed SelG1 based on the idea that blocking P-selectin - an adhesion molecule that causes cells to clump together - may help avert vaso-occlusive crises in sickle cell patients.
A recently-completed phase I trial supported the antibody's safety in human volunteers and the company is now pressing ahead with a phase II evaluation in patients with the disease.
Rollins said the financing will help Selexys fund not only the SelG1 trial but also a phase I study of a second antibody candidate which targets PSGL-1 and could have activity in the treatment of inflammatory bowel diseases such as Crohn's.
Sickle cell disease is currently treated using a handful of pharmacological therapies. The only drug specifically approved to treat the underlying pathology in the disease is hydroxyurea, with other drugs used to treat symptoms such as pain.
Another drug in trials for sickle cell is Emmaus Medical's L-glutamine, which is currently in phase III testing and has been designated an orphan drug by the US FDA.
Biotechnology company honored for work in development of clinical drug candidate for the potential treatment of vaso-occlusive crisis of sickle cell disease GlycoMimetics, Inc., a clinical-stage biotechnology company developing a new class of glycobiology-based therapies for a broad range of indications, announced today that the William E. Proudford Sickle Cell Fund presented the company with its 2012 Unsung Hero Award last night. The award was presented during the organization's 7th Annual "Rockin' the Red" Fundraiser which was held at the Legg Mason World Headquarters, in Baltimore, Maryland. The Unsung Hero Award is bestowed to individuals and organizations that have helped to raise awareness about sickle cell disease and sickle cell trait. Each year, a different segment of the community is chosen in an effort to emphasize that a community-wide effort is needed to help combat sickle cell disease. Previous Unsung Hero awardees have included United States Senator Thomas Carper, Maryland State Delegate Shirley Nathan-Pulliam, Dr. Sophie Lanzkron with Johns Hopkins, and Ms. Jean R. Wadman with Nemours duPont Hospital for Children.
"We are extremely honored to be recognized for our research of treatment options for people living with sickle cell disease by such a remarkable organization," said Chief Executive Officer Rachel K. King. "Receiving this award bolsters our company's efforts to advance our lead drug candidate, GMI-1070, which is currently in a Phase 2 clinical trial of patients experiencing sickle cell crisis. We hope this drug can make a difference for people living with sickle cell disease." GlycoMimetics is studying vaso-occlusive crisis (VOC) of sickle cell disease, one of the most debilitating effects of sickle cell disease, where changes in blood protein cause red blood cells to become rigid and stick inside small blood vessels, causing blockages in blood flow and pain. Researchers are studying the potential of GlycoMimetics' lead drug candidate, GMI-1070, to treat VOC by reducing the cell adhesion and inflammation that is believed to contribute to blood flow blockages.
Enrollment complete in Gamida Cell’s NiCord Phase I/II trial for hematological problems NiCord is in development as an experimental treatment for a series of indications that potentially could be cured with a bone marrow transplantation including hematological malignancies (blood cancer), sickle cell disease, thalassemia, severeautoimmune diseases and metabolic diseases. The clinical trial announced today (clinicaltrials.gov identifier NCT01221857) is studying NiCord as an alternative investigational treatment for hematological malignancies (HM). A combined total of 11 patients were transplanted at Duke University Medical Center and at Loyola University Medical Center. Dr. Mitchell E. Horwitz of Duke University Medical Center is the principal investigator. Final results of the Phase I/II study are expected within 6 months. The company is also actively enrolling for a Phase I/II study of NiCord as an experimental treatment for sickle cell, a genetic blood disease (clinicaltrials.gov identifier NCT01590628). NiCord is an expanded cell graft derived from an entire unit of umbilical cord blood enriched with stem cells. NiCord was developed based on Gamida Cell's proprietary NAM technology. As the Phase I/II trial for HM is a first in man safety andefficacy study, for this stage, NiCord was transplanted with a second un-manipulated cord blood unit in a double cord blood configuration. Steelers' Clark launches sickle cell campaign
safety Ryan Clark is teaming up with a Pittsburgh hospital to help raise awareness for those who suffer from sickle cell blood disorder. Clark and UPMC launched the ''Cure League'' on Tuesday, hoping to bring more attention to sickle cell disease. Clark is one an estimated 2 million Americans who suffer from the disorder. He had to have his spleen removed after the disease was aggravated playing at high elevation in Denver in 2007. He eventually lost 35 pounds and was forced to miss the rest of the season. He will travel but not play for the Steelers on Sunday night when they hit the road to face the Broncos to open the 2012 campaign.
This initiative focuses on education, donations and support that will enable researchers to learn how to provide better care and hopefully help lead to a cure. On the Web: www.CureLeague.org.
Video Resources
Schedule of Free CDC 2012 Webinars
“Public Health Webinar Series on Hemoglobinopathies”
Hosted by: The Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities (NCBDDD), Centers for Disease Control and Prevention (CDC) 4th Thursday of every month from 2:00PM – 3:00PM ET The purpose of this webinar series is to offer a hemoglobinopathies learning collaborative platform for providers, consumers, educators, and scientists. Hemoglobinopathy Webinars are archived at http://scinfo.org
To Join The Webinar

Copy this address and paste it into your web browser: https://www.livemeeting.com/cc/cdc/join
Copy and paste the required meeting ID: 84QK2D and click “join”.
First Time Users: To save time before the meeting, check your system to make sure it is ready to use Microsoft Office Live Meeting. To hear the presentation you must call in to the number below.
For Audio

Dial 1-877-953-6706 and enter participant code: 9706616
If you are unable to join us on the internet for viewing, you are welcome to call in for audio access only. Participants outside the United States must be able to access 800 numbers to the US. Otherwise, please RSVP the location and number of participants for alternative international conference line access. 9/27: Improving Quality of Care for Sickle Cell Pediatrics in the Emergency Department Dr. James Moses, Boston Medical Center 10/25: Strategies from the Field – Data Collection and Harmonization CDC’s Division of Blood Disorders and RuSH Project States
November/December: --- No Webinars---
See all the previous CDC Sickle Cell Webinars and instructions to view or listen to future events see: http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-health
New Web Resource
NHS Sickle Cell and Thalassaemia Screening Programme Training Modules
Standards are key in the delivery of an expert antenatal and newborn screening programme. The NHS Sickle Cell and Thalassaemia Screening Programme has invested in a laboratory module where laboratory personnel can participate in online training which tests them on the basic heterozygous conditions which must be detected by the antenatal screening programme.
The module has been designed to incorporate the standards of the Screening Programme’s Laboratory Handbook
See all the publications at http://sct.screening.nhs.uk/
Articles in the Medical Literature for September
1. J Pediatr Oncol Nurs. 2012 Sep 19. [Epub ahead of print]
Exploring Family Communication About Sickle Cell Disease in Adolescence.
Graff JC, Hankins J, Graves RJ, Robitaille KY, Roberts R, Cejda K, Hardy BT, Johnson M, Porter JS.
Source
College of Nursing, University of Tennessee Health Science Center, Memphis, TN, USA.
Abstract
Sickle cell disease (SCD) is a lifelong disorder that involves progressive organ damage and requires ongoing medical attention to prevent and treat episodic acute complications. Children with SCD need ongoing monitoring and extra attention that may be stressful to family members. Communication within families can help resolve family stress and may be associated with medical follow-up and management of SCD. Focus groups were conducted with 12 African American families to explore the communication that occurred within and outside of the family from the perspectives of adolescents with SCD, siblings, and parents. Factors that influence family communication were explored. The extended family was an important social network and resource to adolescents, siblings, and parents. Family member knowledge of SCD was an important factor that influenced communication about SCD; adolescents and parents communicated more easily than siblings and also reported having more knowledge of SCD than siblings. Future research focusing on the knowledge of immediate and extended family members and their recognition of their contribution to the child with SCD is recommended.
PMID: 22992426 [PubMed - as supplied by publisher]
Related citations
2. Haematologica. 2012 Sep 14. [Epub ahead of print]
The relationship between the severity of hemolysis, clinical manifestations and risk of death in 415 patients with sickle cell anemia in the US and Europe. Nouraie M, Lee JS, Zhang Y, Kanias T, Zhao X, Xiong Z, Oriss TB, Zeng Q, Kato GJ, Gibbs JS,Hildesheim ME, Sachdev V, Barst R, Machado R, Hassell KL, Little JA, Schraufnagel DE,Krishnamurti L, Novelli E, Girgis RE, Morris C, Rosenzweig EB, Badesch DB, Lanzkron S, Castro O, Goldsmith JC, Gordeuk V, Gladwin MT. Source
Howard University, USA;
Abstract
Background The intensity of hemolytic anemia has been proposed as an independent risk factor for the development of certain clinical complications of sickle cell disease, such as pulmonary hypertension, hypoxemia and cutaneous leg ulceration. A composite variable derived from several individual markers of hemolysis could facilitate studies of the underlying mechanisms of hemolysis. In this study we assessed the association of hemolysis with outcomes in sickle cell disease anemia. Design and Methods A hemolytic component was calculated by principal component analysis from reticulocyte count, serum lactate dehydrogenase, aspartate aminotransferase and total bilirubin concentrations in 415 hemoglobin SS patients. Association of this component with direct markers of hemolysis and clinical outcomes was assessed. Results As primary validation, both plasma red blood cell microparticles and cell-free hemoglobin concentration were higher in the highest hemolytic component quartile compared to the lowest quartile (p≤0.0001 for both analyses). The hemolytic component was lower with hydroxyurea therapy, higher hemoglobin F, and alpha-thalassemia (p≤0.0005); it was higher with higher systemic pulse pressure, lower oxygen saturation, and greater values for tricuspid regurgitation velocity, left ventricular diastolic dimension and left ventricular mass (all p<0.0001). Two-year follow-up analysis showed that a high hemolytic component was associated with an increased risk of death (hazard ratio of 3.44; 95% CI=1.2-9.5; p = 0.02). Conclusion The hemolytic component reflects direct markers of intravascular hemolysis in patients with sickle cell disease and allows for adjusted analysis of associations between hemolytic severity and clinical outcomes. These results confirm associations between hemolytic rate and pulse pressure, oxygen saturation, increases in Doppler-estimated pulmonary systolic pressures and mortality (Clinicaltrials.gov identifier: NCT00492531). Key words: Sickle Cell Anemia, hemolysis, validation study, RBC Microparticles, Cell-Free Plasma Hemoglobin.
Free Article
PMID: 22983573 [PubMed - as supplied by publisher]
Related citations
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3. J Natl Med Assoc. 2012 May-Jun;104(5-6):299-304.
Identification and management of sickle cell trait by young physicians.
Koopmans J, Ross LF.
Source
Pediatric Emergency Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University, Illinois, USA.
Abstract
BACKGROUND:
Sickle cell disease (SCD) is found in many ethnic groups, with the highest prevalence of heterozygote ' carriers (sickle cell trait [SCT]) in African Americans. SCT is associated with an increased risk of fatal exertional heat illness, renal papillary necrosis, and splenic infarction. Since 2006, all infants born in the United States are required to be screened for hemoglobinopathies as part of newborn screening (NBS). In 2010, as part of a legal settlement, the National Collegiate Athletic Association (NCAA) implemented SCT screening in division I athletes.
METHODS:
Members of the American Academy of Pediatrics (AAP) Section on Young Physicians were sent up to 4 e-mail survey requests to evaluate SCT education during residency, current NBS follow-up practice, and awareness of the NCAA policy. Descriptive statistics and chi2 analyses were performed.
RESULTS:
Of 871 eligible participants, 355 (41%) completed the survey. Respondents were 70% female, 71% white, and 79% general pediatricians. Most had experience with SCD during residency and had been taught about the medical and reproductive implications of SCT. Virtually all pediatricians report SCT to families when identified during NBS, but only 59% order confirmatory testing (e.g., hemoglobin electrophoresis) to verify status. While 93% counsel about reproductive implications of SCT, only 71% counsel about other medical implications. Only 27% were aware of the NCAA policy.
DISCUSSION:
Despite formal SCT education, a significant number of pediatricians do not verify NBS results or counsel about the medical implications of SCT. More comprehensive AAP guidelines about SCT are needed and must be incorporated into residency education.
PMID: 22973679 [PubMed - in process]
Related citations 4. Cochrane Database Syst Rev. 2012 Sep 12;9:CD003427.
Prophylactic antibiotics for preventing pneumococcal infection in children with sickle cell disease.
Hirst C, Owusu-Ofori S.
Source
AstraZeneca, Parklands (90HW2Q1), Alderley Park, Cheshire, UK, SK10 4TG.
Abstract
BACKGROUND:
People with sickle cell disease are particularly susceptible to infection. Infants and very young children are especially vulnerable, and the 'Co-operative Study of Sickle Cell Disease' observed an incidence rate of 10 per 100 patient years of pneumococcal septicaemia in children under the age of three. Vaccines, including customary pneumococcal vaccines, may be of limited use in this age group. Therefore, prophylactic penicillin regimens may be advisable for this population.
OBJECTIVES:
To assess the effects of prophylactic antibiotic regimens for preventing pneumococcal infection in children with sickle cell disease. SEARCH METHODS:
We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Haemoglobinopathies Trials Register, which is comprised of references identified from comprehensive electronic database searches and hand searches of relevant journals and abstract books of conference proceedings. Date of the most recent search: 28 March 2012.
SELECTION CRITERIA:
All randomised or quasi-randomised controlled trials comparing prophylactic antibiotics to prevent pneumococcal infection in children with sickle cell disease with placebo, no treatment or a comparator drug.
DATA COLLECTION AND ANALYSIS:
Both authors independently extracted data and assessed trial quality. MAIN RESULTS:
Five trials were identified by the initial search, of which three trials met the inclusion criteria. All of the included trials showed a reduced incidence of infection in children with sickle cell disease (SS or Sβ0Thal) receiving prophylactic penicillin. In trials which investigated initiation of penicillin on risk of pneumococcal infection, the odds ratio was 0.37 (95% CI 0.16 to 0.86), while for withdrawal the odds ratio was 0.49 (95% CI 0.09 to 2.71). Adverse drug effects were rare and minor. Rates of pneumococcal infection were found to be relatively low in children over the age of five. AUTHORS' CONCLUSIONS:
Prophylactic penicillin significantly reduces risk of pneumococcal infection in children with homozygous sickle cell disease, and is associated with minimal adverse reactions. Further research may help to determine the ideal age to safely withdraw penicillin. PMID: 22972063 [PubMed - in process]
Related citations Sickle Cell News for August 2012
September is Sickle Cell Month – see all the events at the end of the newsletter Living Well with Sickle CellForty-eight-year-old Ayoola Olajide is living well with sickle cell anaemia (SS). Olajide, the Editor of African Sickle Cell News and World Report, and author of Menace In My Blood- my affliction with sickle cell anaemia is married to a woman with the AA genotype (without the SS trait) and they have three boys (AS, without anaemia but are carriers). Olajide, a journalist, is on a crusade to address the genetic disorder through aggressive public enlightenment.. He said Nigerians with sickle cell could live well into old age if they have the right information and others could avoid having children with the condition by making the right choices. http://www.ngrguardiannews.com/index.php?option=com_content&view=article&id=96379:living-well-with-sickle-cell-anaemia-for-48-years&catid=44:natural-health&Itemid=599 Affordable Care Act (ACA) by the United States Supreme Court - SCDAA Summary at http://www.sicklecelldisease.org/index.cfm?page=chief-medical-officer-newsThe Sickle Cell Disease Association of America, Inc. (SCDAA) applauds the upholding of many of the provisions of the Affordable Care Act (ACA) by the United States Supreme Court. The ACA represents a significant victory for individuals with chronic diseases such as sickle cell disease. Fear of moving from your pediatric doctor to an adult doctor because you may not have insurance may be unnecessary under the ACA. How does the ACA protect you as an individual living with sickle cell disease? SCDAA wants to point out how ACA can improve the healthcare of people with sickle cell disease. 1. Insurers can no longer deny coverage to anyone with a chronic or pre-existing health condition such as sickle cell disease. Children and adults are now able to get insurance that covers treatment of their illnesses.2. Lifetime caps on coverage have been removed and insurers have to set annual limits on essential health services at a minimum of $750,000. What does this mean? This means that health insurance companies cannot deny coverage to anyone with a chronic health condition such as sickle cell disease. Furthermore, your health insurance company can no longer set a limit on how much of your health care costs they will pay forever, this is known as "lifetime cap". Currently, the limit on how much they will pay for your heath care in each year has been set at $750,000. The long-term goal of ACA is to eliminate annual limits that are currently practiced by insurance companies from imposing any annual limits at all. SCDAA will closely monitor and report to you and our member organizations as to the progress the ACA law makes in removing these annual limits completely. Video ResourcesNew CDC Videos PostedTranslating Research to Policy Dr. Shawn Bediako, University of Maryland, Baltimore County at mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDCBediako.wmvSchedule of Free CDC 2012 Webinars “Public Health Webinar Series on Hemoglobinopathies” Hosted by: The Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities (NCBDDD), Centers for Disease Control and Prevention (CDC) 4th Thursday of every month from 2:00PM – 3:00PM ET The purpose of this webinar series is to offer a hemoglobinopathies learning collaborative platform for providers, consumers, educators, and scientists. Hemoglobinopathy Webinars are archived at http://scinfo.org To Join The Webinar Copy this address and paste it into your web browser: https://www.livemeeting.com/cc/cdc/join Copy and paste the required meeting ID: 84QK2D and click “join”. First Time Users: To save time before the meeting, check your system to make sure it is ready to use Microsoft Office Live Meeting. To hear the presentation you must call in to the number below. For Audio Dial 1-877-953-6706 and enter participant code: 9706616 If you are unable to join us on the internet for viewing, you are welcome to call in for audio access only. Participants outside the United States must be able to access 800 numbers to the US. Otherwise, please RSVP the location and number of participants for alternative international conference line access. 9/27: Improving Quality of Care for Sickle Cell Pediatrics in the Emergency Department Dr. James Moses, Boston Medical Center 10/25: Strategies from the Field – Data Collection and Harmonization CDC’s Division of Blood Disorders and RuSH Project States November/December: --- No Webinars---See all the previous CDC Sickle Cell Webinars and instructions to view or listen to future events see: http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-healthNew Web ResourceNHS Sickle Cell and Thalassaemia Screening Programme Training ModulesStandards are key in the delivery of an expert antenatal and newborn screening programme. The NHS Sickle Cell and Thalassaemia Screening Programme has invested in a laboratory module where laboratory personnel can participate in online training which tests them on the basic heterozygous conditions which must be detected by the antenatal screening programme.The module has been designed to incorporate the standards of the Screening Programme’s Laboratory Handbook See all the publications at http://sct.screening.nhs.uk/ Articles in the Medical Literature for August1. Br J Haematol. 2012 Aug 28. doi: 10.1111/bjh.12019. [Epub ahead of print]High dose vitamin D therapy for chronic pain in children and adolescents with sickle cell disease: results of a randomized double blind pilot study.Osunkwo I, Ziegler TR, Alvarez J, McCracken C, Cherry K, Osunkwo CE, Ofori-Acquah SF, Ghosh S, Ogunbobode A, Rhodes J, Eckman JR, Dampier C, Tangpricha V.SourceAflac Cancer and Blood Disorders Center of Children's Healthcare of Atlanta, Atlanta, GA, USA; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.AbstractWe report results of a pilot study of high-dose vitamin D in sickle cell disease (SCD). Subjects were given a 6-week course of oral high-dose cholecalciferol (4000-100 000 IU per week) or placebo and monitored prospectively for a period of six months. Vitamin D insufficiency and deficiency was present at baseline in 82·5% and 52·5% of subjects, respectively. Subjects who received high-dose vitamin D achieved higher serum 25-hydroxyvitamin D, experienced fewer pain days per week, and had higher physical activity quality-of-life scores. These findings suggest a potential benefit of vitamin D in reducing the number of pain days in SCD. Larger prospective studies with longer duration are needed to confirm these effects.© 2012 Blackwell Publishing Ltd. PMID: 22924607 [PubMed - as supplied by publisher]
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2. ScientificWorldJournal. 2012;2012:949535. Epub 2012 Aug 1.Beyond the definitions of the phenotypic complications of sickle cell disease: an update on management.Ballas SK, Kesen MR, Goldberg MF, Lutty GA, Dampier C, Osunkwo I, Wang WC, Hoppe C, Hagar W, Darbari DS, Malik P.SourceCardeza Foundation and Department of Medicine, Thomas Jefferson University, 1015 Walnut Street, Philadelphia, PA 19107, USA.AbstractThe sickle hemoglobin is an abnormal hemoglobin due to point mutation (GAG → GTG) in exon 1 of the β globin gene resulting in the substitution of glutamic acid by valine at position 6 of the β globin polypeptide chain. Although the molecular lesion is a single-point mutation, the sickle gene is pleiotropic in nature causing multiple phenotypic expressions that constitute the various complications of sickle cell disease in general and sickle cell anemia in particular. The disease itself is chronic in nature but many of its complications are acute such as the recurrent acute painful crises (its hallmark), acute chest syndrome, and priapism. These complications vary considerably among patients, in the same patient with time, among countries and with age and sex. To date, there is no well-established consensus among providers on the management of the complications of sickle cell disease due in part to lack of evidence and in part to differences in the experience of providers. It is the aim of this paper to review available current approaches to manage the major complications of sickle cell disease. We hope that this will establish another preliminary forum among providers that may eventually lead the way to better outcomes.PMCID: PMC3415156 Free Article PMID: 22924029 [PubMed - in process]
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3. Blood. 2012 Aug 24. [Epub ahead of print]Sickle cell pain: a critical reappraisal.Ballas SK, Gupta K, Adams-Graves P.SourceCardeza Foundation, Department of Medicine, Jefferson Medical College, Thomas Jefferson University, Philadephia, PA, United States;AbstractSickle cell pain includes three types: acute recurrent painful crises, chronic pain syndromes and neuropathic pain. The acute painful crisis is the hallmark of the disease and the most common cause of hospitalization and treatment in the Emergency Department. It evolves through four phases: prodromal, initial, established and resolving. Each acute painful episode is associated with inflammation that worsens with recurrent episodes, often culminating in serious complications and organ damage such as acute chest syndrome, multi-organ failure and sudden death. Three pathophysiologic events operate in unison during the prodromal phase of the crisis: vaso-occlusion, inflammation and nociception. Aborting the acute painful episode at the prodromal phase could potentially prevent or minimize tissue damage. Our hypothesis is that managing these events with hydration, anti-inflammatory drugs, aggressive analgesia and possibly vasodilators could abort the crisis and prevent or minimize further damage. Chronic pain syndromes are associated with or accompany avascular necrosis and leg ulcers. Neuropathic pain is not well studied in patients with sickle cell disease but has been modeled in the transgenic sickle mouse. Management of sickle cell pain should be based on its own pathophysiologic mechanisms rather than borrowing guidelines from other non-sickle pain syndromes. PMID: 22923496 [PubMed - as supplied by publisher]
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4. Chest. 2012 Aug 20. doi: 10.1378/chest.12-0611. [Epub ahead of print]The impact of Sickle Cell Disease on exercise capacity in children.Chaudry12 RA, Bush1 A, Rosenthal1 M, Crowley2 S.AbstractABSTRACTBACKGROUND: Little is known about pulmonary vascular complications in children with Sickle Cell Disease (SCD). We hypothesised that transfer factor (DLco) may be used as a surrogate for the size of the pulmonary vascular bed, and that pulmonary vascular abnormalities in SCD children may limit exercise capacity.METHODS: 50 stable SCD patients aged10 to-18 years and 50 healthy controls matched for race and age were recruited. Incremental ergometer cardiopulmonary exercise testing (CPET) was performed using respiratory mass spectrometry (RMS) for exhaled gas analysis. A rebreathing manoeuvre was used to measure functional residual capacity (FRC), effective pulmonary blood flow (Qpeff) and DLCO, and helium dilution was used to calculate minute ventilation (VE), oxygen consumption (VO2) and carbon dioxide production (CO2).RESULTS: In the 89 evaluable subjects, there were no ventilatory differences between SCD and controls. Qpeff was consistently 15-20% greater in SCD than controls at all stages but Dlco corrected for both surface area and haemoglobin was only about 7-10% greater in SCD at all stages As a result the Dlco/Qpeff ratio was considerably lower in SCD at all stages. Arteriovenous oxygen content difference was about one third less in SCD at all stages.CONCLUSIONS: Contrary to our hypothesis, failure to maintain a sufficient Qpeff to compensate for anaemia led to exercise limitation. The ratio of Pulmonary capillary blood volume to flow is reduced throughout, implying subtle pulmonary vascular disease; however this was not a factor limiting exercise.1Royal Brompton Hospital, London, United Kingdom.2St Georges' Hospital, London, United Kingdom.Corresponding author's details (also author for reprint requests): Dr Mark Rosenthal, Department of Paediatric Respiratory Medicine, Royal Brompton Hospital, London SW3 6NP Email: M. Rosenthal@rbht.nhs.uk. PMID: 22922408 [PubMed - as supplied by publisher]
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5. Blood. 2012 Aug 22. [Epub ahead of print]Impact of hydroxyurea on clinical events in the BABY HUG trial.Thornburg CD, Files BA, Luo Z, Miller ST, Kalpatthi R, Iyer R, Seaman P, Lebensburger J, Alvarez O, Thompson B, Ware RE, Wang WC.SourceDuke University Medical Center, Durham, NC, United States;AbstractBABY HUG was a Phase III multicenter, randomized, double-blind placebo-controlled clinical trial of hydroxyurea in infants (beginning at 9-18 months of age) with sickle cell anemia (SCA). An important secondary objective of this study was to compare clinical events between the hydroxyurea and placebo groups. One hundred and ninety-three subjects were randomized to hydroxyurea (20 mg/kg/day) or placebo; there were 374 patient-years of on-study observation. Hydroxyurea was associated with statistically significantly lower rates of initial and recurrent episodes of pain, dactylitis, ACS and hospitalization; even infants who were asymptomatic at enrollment had less dactylitis as well as fewer hospitalizations and transfusions if treated with hydroxyurea. Despite expected mild myelosuppression, hydroxyurea was not associated with an increased risk of bacteremia or serious infection. These data provide important safety and efficacy information for clinicians considering hydroxyurea therapy for very young children with SCA. This clinical trial is registered with the NIH (NCT00006400, www.clinicaltrials.gov). PMID: 22915643 [PubMed - as supplied by publisher]
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6. Adv Skin Wound Care. 2012 Sep;25(9):420-428.Sickle Cell Disease and Leg Ulcers.Ladizinski B, Bazakas A, Mistry N, Alavi A, Sibbald RG, Salcido R.SourceBarry Ladizinski, MD, BS • Clinical Research Fellow • Duke University Medical Center • Durham, North Carolina Andrea Bazakas, BS • Clinical Trials Assistant II • Duke University Medical Center • Durham, North Carolina Nisha Mistry, MD, BSc, FRCPC(Derm), DABD • Community Dermatologist • Mississauga, Ontario, Canada Afsaneh Alavi, MD, FRCPC(Derm) • Dermatologist and Wound Care Consultant • Women's College Hospital • Toronto, Ontario, Canada R. Gary Sibbald, BSc, MD, Med, FRCPC(Med Derm), MACP, FAAD, MAPWCA • Professor of Public Health and Medicine • University of Toronto • Toronto, Ontario, Canada • Director • International Interprofessional Wound Care Course & Masters of Science in Community Health (Prevention & Wound Care) • Dalla Lana School of Public Health • University of Toronto • President World Union of Wound Healing Societies • Clinical Editor • Advances in Skin & Wound Care • Ambler, Pennsylvania Richard Salcido, MD • Editor-in-Chief • Advances in Skin & Wound Care • Ambler, Pennsylvania • Course Director • Annual Clinical Symposium on Advances in Skin & Wound Care • William Erdman Professor • Department of Rehabilitation Medicine • Senior Fellow • Institute on Aging • Associate • Institute of Medicine and Bioengineering • University of Pennsylvania Health System • Philadelphia, Pennsylvania.AbstractPURPOSE:: To enhance the learner's competence with knowledge of sickle cell disease (SCD) and its relationship to leg ulcers. TARGET AUDIENCE:: This continuing education activity is intended for physicians and nurses with an interest in skin and wound care. OBJECTIVES:: After participating in this educational activity, the participant should be better able to:1. Demonstrate knowledge of SCD-associated leg ulcer pathophysiology, symptomatology, diagnostic testing, and risk factors.2. Apply knowledge of pain management and treatment options for SCD-associated leg ulcers to patient care scenarios. ABSTRACT: Sickle cell disease is a genetic disorder of hemoglobin synthesis leading to a deformation of the red blood cell. This disorder is associated with painful, slow-to-heal leg ulcers. This article discusses the wound bed preparation paradigm as a guide to the treatment of sickle cell-associated leg ulcers. PMID: 22914039 [PubMed - as supplied by publisher]
Sickle Cell News for July 2012.

Sickle cell trait can cause sudden cardiac death in black athletes: Why is this controversial? http://www.eurekalert.org/pub_releases/2012-07/mhif-sct072312.phpWhile some published research has hinted at the connection between the sickle cell trait and sudden cardiac death among young, athletic African-American males, which was initially observed in black military recruits 25 years ago, a new study with the first sizeable patient series definitively confirms this risk for these individuals during competitive sports.The sickle cell trait, for which all U.S. African Americans are tested at birth, affects approximately 8 percent of the population. The Minneapolis Heart Institute Foundation maintains a 32-year-old forensic database, the U.S. Sudden Death in Athletes Registry, which researchers interrogated to determine the frequency, epidemiology and clinical profile of sickle cell trait-related deaths in a large population of competitive athletes for the purposes of this study. The findings from this registry show there is "convincing evidence of a causal relationship between the sickle cell trait and the deaths of young, black competitive athletes, especially football players," says the study's senior author Barry J. Maron, MD, director of the Hypertrophic Cardiomyopathy Center at the Minneapolis Heart Institute Foundation. The study will be published in the October edition of the American Journal of Cardiology, but currently is available online.Prior to this registry study, a lawsuit and previous research prompted the National Collegiate Athletic Association (NCAA) to conduct mandatory screening for the sickle cell trait in all division I athletes prior to their participation in college athletics. As of yet, the NCAA has not expanded to the screening program to division II or III athletes, nor has the association shared its data with the medical community. Of the 2,462 athlete deaths in the U.S. Sudden Death in Athletes Registry, which provides the first and largest published record of athletes who died of sudden cardiac death on an athletic field, 23 occurred in association with the sickle cell trait (ages 12 to 22 years): 21 were male and all were African Americans. The deaths most often occurred in college-aged athletes (19-23 years) during football conditioning drills early in the season, and with those exposed to high environmental temperatures."The registry was initially started by Dr. Maron to help the medical community understand why any athlete would collapse on a field," explains the study's lead author Kevin M. Harris, MD, co-director of the Acute Aortic Dissection Program and director of the echocardiography laboratory at the Minneapolis Heart Institute® at Abbott Northwestern Hospital in Minneapolis. "We decided to assess the connection between the sickle cell trait and sudden death within our large registry," Harris continues. "As a result, we have developed the first sizable series of competitive athletes in whom sickle cell trait was associated with otherwise unexplained sudden, unexpected collapse and death."Maron, who has been assessing cardiovascular-related deaths of young athletes for approximately 35 years, is surprised at the level of skepticism he's witnessed regarding the sickle cell trait as a cause of sudden in young, black athletes, even in the scientific medical community. In the study, the researchers concluded that the sickle cell trait "can be associated with largely unpredictable sudden collapse and death and apparent predilection for African American college football players during conditioning. Understanding the risks, mechanisms, and event triggers of the sickle cell trait may allow lifesaving alterations in training methods to be implemented."In order to implement such lifesaving alterations in training methods, particularly due to the unpredictable nature of sickle cell trait events, there needs to be a greater understanding and acceptance of this lethal connection. "To not acknowledge this link between sickle cell trait and sudden death creates the possibility of a failure to fully protect the athlete community," Maron said. http://www.ajconline.org/article/S0002-9149(12)01531-7/abstract

Texas Children's Center for Global Health celebrates 1-year anniversary of successful sickle cell disease screening program in Angola http://www.marketwatch.com/story/texas-childrens-center-for-global-health-celebrates-1-year-anniversary-of-successful-sickle-cell-disease-screening-program-in-angola-2012-07-19Exactly one year after launching the Angolan Sickle Cell Initiative, Texas Children's Center for Global Health is proud to announce that more than 16,000 babies have been screened for this once-overlooked killer of children in Africa. Encouraged by the First Lady of Angola, and aided by the vision and support of Mr. Ali Moshiri, president, Chevron Africa and Latin America Exploration and Production Company and Dr. Mark Kline, physician-in-chief at Texas Children's Hospital and chairman of pediatrics at Baylor College of Medicine (BCM), the Angolan sickle cell initiative was launched in March 2011 by the Texas Children's Center for Global Health. With financial support from Chevron Corporation, and in collaboration with the Ministry of Health of Angola, this bold initiative quickly reached fruition on July 19, 2011, when babies born at Lucrecia Paim Maternity Hospital in the Luanda province became the first Angolan infants to ever receive newborn screening for sickle cell disease. This landmark program in Angola serves as a bold step forward in their efforts to improve healthcare in the country. "Until last year, no newborn infant was tested for sickle cell disease in Angola," explains Dr. Russell E. Ware, Director of the Texas Children's Center for Global Health and a professor of pediatrics at BCM. "Sadly, many die in the first two years of life from preventable infections related to the disease, because they are never properly diagnosed. But after witnessing the success of our first year screening babies for sickle cell in Luanda, we know we can tip the scales and make a sea change of difference for these babies." Angola has one of the highest child mortality rates in the world, and each year, approximately 2 percent of babies (close to 10,000) are born with sickle cell disease. Of these babies, the majority die before they reach 5 years-old. With proper intervention, almost all babies with sickle cell disease will reach adulthood, as has been proven in the United States, where newborn infants are tested soon after birth and given access to proper treatment. Thanks to the Angolan Sickle Cell Initiative, more than 16,000 babies have already been tested, and several hundred babies with sickle cell disease have been identified. "The goal of the Sickle Cell program is to not only provide screening, diagnosis and care for this neglected population of children, but to also develop a training and education program that will be sustainable from within Angola and easily replicated in countries that need it the most," says Meg Ferris, Ph.D., MPH, administrative director Texas Children's Center for Global Health. Angolan obstetrical nurses have been trained to collect the blood samples, Angolan laboratory technicians have become expert in diagnostic testing, and Angolan pediatric nurses and doctors have learned to provide life-saving medical interventions, all important facets to making the program sustainable from within the country. Over the next 12 months, the program will expand to a second Angolan province to screen even more babies and save more lives. In addition, plans are in the works to expand the program into more countries in Africa and South America. For more information http://globalhealth.texaschildrens.org/ . Further information on the Sickle Cell Disease Screening Program can be accessed here: http://www.youtube.com/watch?v=06bmu2HcCGo&list=PL46A8079C258A67D0&index=3 Conference in Bahrain http://www.gulf-daily-news.com/NewsDetails.aspx?storyid=334648

HUNDREDS of patients and doctors are expected to attend a major conference on sickle cell disease next month at the Gulf Air Club, Salmabad. The Bahrain Society for Sickle Cell Anaemia Patients Care is organising the annual event to spread awareness about the disease.This year's meeting follows a spate of deaths among sickle cell sufferers, with nine patients dying in the space of less than three weeks from June 28 to July 19.The society has so far registered 17 sickle cell deaths this year and hopes to promote its ID card initiative during the meeting on August 1, which starts at 9pm and is expected to be attended by Health Minister Sadiq Al Shehabi and other officials.It is pushing for a scheme in which sickle cell patients are issued ID cards listing details such as blood type, CPR number and other health-related information so they receive proper treatment. The gathering will feature speeches by society members and a special film showcasing the work of sickle cell activist Jehad Rabia, who died last month from the disease.She was among several Bahraini patients who died at Salmaniya Medical Complex (SMC), forcing health authorities to respond to a spate of deaths. "A short film of Jehad's work with the society will be showcased along with another Bahraini film titled Wabel, that highlights the stages of life of a sickle cell patient," said society member Samah Hussain. She said she hoped the fact that it fell in Ramadan would encourage more people to take part in the event."We want more people to know about the disease and those living with it," she added. After several deaths of sickle cell patients in a short period, Mr Al Shehabi this month admitted errors had been made in the treatment of sufferers. He ordered officials to come up with a comprehensive plan to tackle the problem and treat patients.Campaigners have blamed inadequate facilities at SMC and shortage of Intensive Care Unit beds for sickle cell deaths, although officials maintain they have tried their best to provide patients with the best care. The GDN reported on July 20 that as a temporary measure it was planning to treat male sickle cell patients at the Ebrahim Khalil Kanoo Community Medical Centre in Salmaniya.According to ministry figures, 18,000 sickle cell patients receive treatment at SMC. However, society members say the total number of carriers of the disease, excluding those being treated, is about 65,000. A BD2.5 million, four-storey facility that will treat all patients with blood diseases including sickle cell is now being built.The 90-bed facility expected to open early next year will treat all patients with blood diseases, but should be of particular help to those suffering from sickle cell disease. Also see http://www.gulf-daily-news.com/NewsDetails.aspx?storyid=334370Video

ResourcesNew CDC Videos PostedNew Posting : Dr. Lanetta Jordan’s presentation on “Sickle Cell Trait – What Every CBO Needs To Know” at mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDCJordan.wmv2012-05-24 - Dr. Paula Tanabe, Duke UniversityStreaming Video: mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDCertreat.wmvPDF of Presentation Handout: Sickle Cell Disease and Emergency Department Use2012-04-26 - Dr. Kathryn Hassell, University of Colorado Denver Streaming Video: View RecordingPDF of Presentation Handout: Sickle Cell – Adult Providers NetworkSchedule of Free CDC 2012 Webinars “Public Health Webinar Series on Hemoglobinopathies” Hosted by: The Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities (NCBDDD), Centers for Disease Control and Prevention (CDC) 4th Thursday of every month from 2:00PM – 3:00PM ET The purpose of this webinar series is to offer a hemoglobinopathies learning collaborative platform for providers, consumers, educators, and scientists. Hemoglobinopathy Webinars are archived at http://scinfo.org To Join The Webinar Copy this address and paste it into your web browser: https://www.livemeeting.com/cc/cdc/join Copy and paste the required meeting ID: 84QK2D and click “join”. First Time Users: To save time before the meeting, check your system to make sure it is ready to use Microsoft Office Live Meeting. To hear the presentation you must call in to the number below. For Audio Dial 1-877-953-6706 and enter participant code: 9706616 If you are unable to join us on the internet for viewing, you are welcome to call in for audio access only. Participants outside the United States must be able to access 800 numbers to the US. Otherwise, please RSVP the location and number of participants for alternative international conference line access. 7/26: -Canciled 8/23:

Translating Research to Policy Dr. Shawn Bediako, University of Maryland, Baltimore County 9/27: Improving Quality of Care for Sickle Cell Pediatrics in the Emergency Department Dr. James Moses, Boston Medical Center 10/25: Strategies from the Field – Data Collection and Harmonization CDC’s Division of Blood Disorders and RuSH Project States November/December: --- No Webinars---See all the previous CDC Sickle Cell Webinars and instructions to view or listen to future events see: http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-healthNew Web ResourceThe Sickle Cell Society - http://www.sicklecellsociety.org Newsletter for July. See the news about the Atlanta Blood Disorders conference on page 9 by Iyamide Thomas.http://issuu.com/communityeventsuk/docs/sickle_cell_society_newsletter_july_2012_pages_1-2?mode=window&backgroundColor=%23222222 NHS- UK Sickle Cell Acute Painful Episode Guideline PublicationYou may be interested to know that the clinical guidelines for Sickle Cell Acute Painful Episode were published on Wednesday 27th June and are now available on the NICE website at http://www.nice.org.uk/CG143 You can find the consultation comments and responses on this page: http://guidance.nice.org.uk/CG/Wave24/6 If you have any queries on the Institute’s guideline development process or the progress of a specific guideline, please do not hesitate to contact me.Thank you for your contributions to the development of these guidelines.Many thanks and kind regards, Laura DoneganiClinical Guidelines

Coordinator National Institute for Health and Clinical ExcellenceLevel 1A | City Tower | Piccadilly Plaza | Manchester M1 4BT | United Kingdom Tel: 44 (0)161 870 3147 | Fax: 44 (0)207 061 9755Web: http://nice.org.uk NHS Sickle Cell and Thalassaemia Screening Programme Statement on HbA2 analysis The work that the NHS Sickle Cell and Thalassaemia Screening Programme has been doing with UK NEQAS has shown biases between different analytical platforms for HbA2 [1]. These findings are obviously of concern when there is a national cut off for the diagnosis of beta thalassaemia carriers. The NHS Sickle Cell and Thalassaemia Screening programme is working with the international bodies of the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC ), the International Council for Standardization in Haematology (ICSH) and the World Health Organisation (WHO), who have also recognised the problem and are working with manufacturers. An international standard is in the early stage of preparation and a statement on the use of the current WHO standard is awaited. Haematology laboratories in the UK should be aware of these problems and ensure they have optimised their methods as much as possible. When considering replacement purchases, haematology laboratories should review all available evidence including the UK NEQAS report. In the meantime laboratories should consider including a statement on this issue in their local risk assessment. If you have any queries about this issue, please contact the NHS Sickle Cell and Thalassaemia Screening Programme Centre by telephone on 020 7848 6634, or email at the following address: haemscreening@kcl.ac.uk 1. Batterbee, H., et al., 2010. Evaluation of UK NEQAS (H) Hb A2 and related performance data, Watford: UK NEQAS (H). The full report is available at http://sct.screening.nhs.uk/cms.php?folder=2419#fileid11145Working to Improve Sickle Cell Healthcare (WISCH) Website at http://www.nichq.org/our_projects/sickle_cell_landing_page.htmlWorking to Improve Sickle Cell Healthcare (WISCH) is NICHQ’s portfolio of projects focused on improving the quality of care for individuals with sickle cell disease across the lifespan. These projects include the Sickle Cell Disease Newborn Screening Program and the Sickle Cell Disease Treatment Demonstration Program, both of which are funded through the Health Resources and Services Administration (HRSA).Free Sickle Cell Pain Fact sheet at http://www.inthefaceofpain.com/content/uploads/2011/09/factsheet_Sickle_Cell.pdf Articles in the Medical Literature for July1. J Pediatr Health Care. 2012 Jul 18. [Epub ahead of print]A Transition Pilot Program for Adolescents With Sickle Cell Disease.Hankins JS, Osarogiagbon R, Adams-Graves P, McHugh L, Steele V, Smeltzer MP, Anderson SM.AbstractINTRODUCTION: Transition from pediatric to adult care is challenging for adolescents with chronic illnesses, including those with sickle cell disease (SCD). We describe a pilot program created to facilitate transition from pediatric to adult care by helping adolescents with SCD identify an adult medical home.METHODS: We investigated the feasibility of this program by evaluation of overall participation, satisfaction, and acceptance. A secondary objective was to compare the proportion of adolescents who fulfilled a first appointment with an adult hematologist among participants and nonparticipants.RESULTS: During the first 18 months of the program, 83 adolescents were invited and 34 (41%) agreed to participate; 25 (74%) completed their first visit within 3 months after leaving the pediatric program, compared with 16 of 49 (33%) of nonparticipants (p = .0002). Overall, 41 of 83 adolescents (49%) completed an appointment with an adult SCD program, regardless of program participation, in contrast with 11 of 75 adolescents (15%) who did so during the 18 months before the program was created (p < .0001).DISCUSSION: This transition pilot program was feasible, and most adolescent participants with SCD established an adult medical home.Copyright © 2012 National Association of Pediatric Nurse Practitioners. Published by Mosby, Inc. All rights reserved.
PMID: 22819193 [PubMed - as supplied by publisher]
Related citations

2. Transfus Clin Biol. 2012 Jul 18. [Epub ahead of print]Relevance of alloimmunization in haemolytic transfusion reaction in sickle cell disease.Noizat-Pirenne F.SourceÉtablissement français du sang Île-de-France, hôpital Henri-Mondor, 51, avenue du Maréchal-de-Lattre-de-Tassigny, 94010 Créteil, France; Inserm U955, hôpital Henri-Mondor, 51, avenue du Maréchal-de-Lattre-de-Tassigny, 94010 Créteil, France.AbstractTransfusion remains a key treatment in sickle cell disease. The occurrence of a delayed haemolytic transfusion reaction is not rare and is a life-threatening event. The main cause of delayed haemolytic transfusion reaction is production of alloantibodies against red blood cell antigens. The high rate of alloimmunization in sickle cell disease patients is mainly due to the differences of red blood groups between patients of African descent, and the frequently Caucasian donors. From an immuno-haematological point of view, delayed haemolytic transfusion reaction in sickle cell disease patients has specific features: classical antibodies known to be haemolytic can be encountered, but otherwise non significant antibodies, autoantibodies and antibodies related to partial and rare blood groups are also frequently found in individuals of African descent. In some cases, there are no detectable antibodies. As alloimmunization remains the main cause of delayed haemolytic transfusion reaction, it is extremely important to promote blood donation by individuals of African ancestry to make appropriate blood available.Copyright © 2012 Elsevier Masson SAS. All rights reserved.
PMID: 22818360 [PubMed - as supplied by publisher]
Related citations

3. J Thromb Haemost. 2012 Jul 20. doi: 10.1111/j.1538-7836.2012.04861.x. [Epub ahead of print]Hydroxyurea is associated with reduction of hypercoagulability markers in sickle cell anemia.Colella MP, de Paula EV, Conran N, Machado-Neto JA, Annicchino-Bizzacchi JM, Costa FF, Saad ST, Traina F.SourceHematology and Hemotherapy Center - University of Campinas/Hemocentro UNICAMP, Instituto Nacional de Ciência e Tecnologia do Sangue, Campinas, São Paulo, Brazil.AbstractSeveral lines of evidence indicate that sickle cell anemia (SCA) is a state of increased hemostatic activation [1-4]. SCA patients present an elevated rate of thrombotic complications including pulmonary embolism, stroke and pregnancy-related venous thromboembolism [5]. Hydroxyurea (hydroxycarbamide) is currently one of the main pillars of SCA management, improving both clinical complications and mortality in SCA [6] and has several well-defined beneficial effects that could contribute to an inhibition of the hypercoagulability state in SCA. These include a reduction of phosphatidylserine exposure by erythrocytes, reduction of adhesive properties of erythrocytes and leukocytes, endothelial activation, nitric oxide depletion, platelet activation and adhesive properties [7-9]. © 2012 International Society on Thrombosis and Haemostasis.© 2012 International Society on Thrombosis and Haemostasis.

PMID: 22817333 [PubMed - as supplied by publisher] Related citations
4. Med Sci Sports Exerc. 2012 Jul 17. [Epub ahead of print]ACSM and CHAMP Summit on SCT: Mitigating Risks for Warfighters and Athletes.O'Connor FG, Bergeron MF, Cantrell J, Connes P, Harmon KG, Ivy E, Kark J, Klossner D, Lisman P, Meyers BK, O'Brien K, Ohene-Frempong K, Thompson AA, Whitehead J, Deuster PA.Source1Department of Military and Emergency Medicine, Uniformed Services University of the Health Sciences, Bethesda, MD; 2National Institute for Athletic Health and Performance, Sanford USD Medical Center, Sioux Falls, SD; 3Department of Preventive Medicine and Biometrics, Uniformed Services University of the Health Sciences, Bethesda, MD; 4UMR Inserm 665, Universite Antilles-Guyane, Pointe-a-Pitre, Guadeloupe; 5Departments of Family Medicine and Orthopaedics and Sports Medicine, University of Washington, Seattle, WA; 6National Heart, Lung, and Blood Institute, Bethesda, MD; 7Hematology-Oncology Division, Howard University Hospital, Washington, DC; 8National Collegiate Athletic Association, Indianapolis, IN; 9Division of Preventive Medicine, Walter Reed Army Institute of Research, Silver Spring, MD; 10Madigan Army Sickle Cell News for June 2012

June 19 World Sickle Cell Day celebrated around the world
Read the stories:
http://www.bet.com/news/health/2012/06/19/world-sickle-cell-day-is-today.html
http://www.insidetoronto.com/community/health/article/1379275--malvern-s-taibu-spreads-awareness-on-sickle-cell-disease
http://www.businessdayonline.com/NG/index.php/component/content/article/126-health/39934-sickle-cell-disease-how-well-are-people-informed
http://www.plenglish.com/index.php?option=com_content&task=view&id=518051&Itemid=1
Chicago Woman Cured Of Sickle Cell Disease at 33 Chicagoan Ieshea Thomas is the first Midwest patient to receive a successful stem cell transplant to cure her sickle cell disease without chemotherapy in preparation for the transplant. University of Illinois Hospital & Health Sciences System physicians performed the procedure using medication to suppress her immune system and one small dose of total body radiation right before the transplant. The transplant technique is relatively uncommon and is a much more tolerable treatment for patients with aggressive sickle cell disease who often have underlying organ disease and other complications, says Dr. Damiano Rondelli, professor of medicine at UIC, who performed Thomas's transplant. The procedure initially allows a patient's own bone marrow to coexist with that of the donor. Since the patient's bone marrow is not completely destroyed by chemotherapy or radiation prior to transplant, part of the immune defense survives, lessening the risk of infection. The goal is for the transplanted stem cells to gradually take over the bone marrow’s role to produce red blood cells -- normal, healthy ones. Thomas, 33, had her first sickle cell crisis when she was just 8 months old. Her disease became progressively worse as an adult, particularly after the birth of her daughter. She has spent most of her adult life in and out of hospitals with severe pain and has relied on repeated red blood cell transfusions. Her sickle cell disease also caused bone damage requiring two hip replacements. "I just want to be at home with my daughter every day and every night,"said Thomas, who depends on family to help care for her daughter during her frequent hospitalizations. This type of stem cell transplant is only possible for patients who have a healthy sibling who is a compatible donor. Thomas' sister was a match and agreed to donate blood stem cells through a process called leukapheresis. Several days prior to leukapheresis, Thomas' sister was given drugs to increase the number of stem cells released into the bloodstream. Her blood was then processed through a machine that collects white cells, including stem cells. The stem cells were frozen until the transplant. Last Nov. 23, four bags of frozen stem cells were delivered to the hospital's blood and marrow transplant unit. One by one, the bags were thawed and hung on an IV pole for infusion into Thomas. The procedure took approximately one hour. Her 13-year-old daughter, Miayatha, was at her bedside. Six months after the transplant, Thomas is cured of sickle cell disease and no longer requires blood transfusions. "The donor cells have taken over completely, and blood tests show no sickle cell disease," said Rondelli, director of the blood and marrow transplant program at UI Hospital. Thomas continues to take medication to prevent rejection of the donor stem cells. About 25 adults have received a similar chemotherapy-free stem cell transplant for sickle cell disease in recent years at the National Institutes of Health in Bethesda, Md. Approximately 85 percent have been cured. "Sickle cell disease is devastating -- both emotionally and physically," said Dr. Dennis Levinson, a private rheumatologist in Chicago and clinical associate professor of medicine at UIC, who has taken care of Thomas for the past 16 years. "I've been terribly frustrated with Ieshea's disease over the years, and I've cared for many other sickle cell patients who have died." Levinson says the stem cell transplant provides new hope for patients who often live day-to-day on painkillers and who are often misunderstood by clinicians. As the former chief of medicine at the now closed Michael Reese Hospital, he said he has cared for many patients with sickle cell anemia and was determined to seek out the best treatment option for Thomas. Sickle cell disease primarily affects people of African descent. It is an inherited defect of the red blood cells that causes them to be shaped like a crescent, or sickle. These abnormal cells deliver less oxygen to the body's tissues and can result in severe pain, stroke and organ damage. Approximately one in every 500 African Americans born in the U.S. has sickle cell disease. The disease affects 80,000 Americans of different ethnic backgrounds. The University of Illinois Hospital & Health Sciences System provides comprehensive, life-long care for pediatric and adult sickle cell patients. For more information, visit http://www.hospital.uillinois.edu. [Editor's note: Video report available at http://youtu.be/E89xXeeby-A and photos available at http://newsphoto.lib.uic.edu/v/bone_marrow_transplant/.] Children Stories needed from around the worldThe authors of Hope & Destiny: The Patient and Parent's Guide to Sickle Cell Disease and Sickle Cell Trait are planning a children’s version and would like parents to send a short 1 page story written by their school aged child with sickle cell disease that would encourage a child with sickle cell in another country.. Any selected story will be published anonymously with the parent’s permission. There is no compensation, only the joy of being published: Send stories with your child’s age and initials to aplatt@emory.edu New Web resourceNational Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention2011 Annual Report on Sickle Cell Disease and Thalassemia at http://www.cdc.gov/ncbddd/AboutUs/blood-disorders-sicklecell.html

Video Resources
New CDC Videos Posted
2012-05-24 - Dr. Paula Tanabe, Duke University
Streaming Video: mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDCertreat.wmv
PDF of Presentation Handout: Sickle Cell Disease and Emergency Department Use 2012-04-26 - Dr. Kathryn Hassell, University of Colorado Denver
Streaming Video: View Recording
PDF of Presentation Handout: Sickle Cell – Adult Providers NetworkSchedule of Free CDC 2012 Webinars
“Public Health Webinar Series on Hemoglobinopathies” Hosted by: The Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities (NCBDDD), Centers for Disease Control and Prevention (CDC) 4th Thursday of every month from 2:00PM – 3:00PM ET The purpose of this webinar series is to offer a hemoglobinopathies learning collaborative platform for providers, consumers, educators, and scientists.
This month’s webinar will take place on Thursday, June 28th from 2:00pm – 3:00pm ET, featuring
Dr. Lanetta Jordan’s presentation on “Sickle Cell Trait – What Every CBO Needs To Know” Hemoglobinopathy Webinars are archived at http://scinfo.org To Join The Webinar Copy this address and paste it into your web browser: https://www.livemeeting.com/cc/cdc/join Copy and paste the required meeting ID: 84QK2D and click “join”.

First Time Users: To save time before the meeting, check your system to make sure it is ready to use Microsoft Office Live Meeting. To hear the presentation you must call in to the number below.

For Audio Dial 1-877-953-6706 and enter participant code: 9706616 If you are unable to join us on the internet for viewing, you are welcome to call in for audio access only. Participants outside the United States must be able to access 800 numbers to the US. Otherwise, please RSVP the location and number of participants for alternative international conference line access. 7/26: Improved Survival of Children and Adolescents with Sickle Cell Disease Dr. Charles Quinn, Cincinnati Children's Hospital Medical Center 8/23: Translating Research to Policy Dr. Shawn Bediako, University of Maryland, Baltimore County 9/27: Improving Quality of Care for Sickle Cell Pediatrics in the Emergency Department Dr. James Moses, Boston Medical Center 10/25: Strategies from the Field – Data Collection and Harmonization CDC’s Division of Blood Disorders and RuSH Project States November/December: --- No Webinars---

See all the previous CDC Sickle Cell Webinars and instructions to view or listen to future events see: http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-healthFree ASH webinars http://hematology.org/Meetings/Webinars/6832.aspx Pain in Sickle cell disease and Stroke, Renal Disease, and Treatment with Hydroxyurea in Adults with Sickle Cell Disease Articles in the Medical Literature for June

1. Patient Educ Couns. 2012 May 31. [Epub ahead of print] Use of social support during communication about sickle cell carrier status.
Bradford L, Roedl SJ, Christopher SA, Farrell MH.
Source Center for Patient Care and Outcomes Research, Medical College of Wisconsin, Milwaukee, WI, USA. Abstract OBJECTIVE:

To examine the use of social support behaviors by primary care providers during delivery of positive newborn screening results for Sickle Cell Anemia carrier status.
METHODS: Transcripts from 125 primary care providers who conveyed Sickle Cell Anemia carrier status to standardized parents were content analyzed using categories derived from Cutrona and Suhr's social support taxonomy. Frequencies and cross-tabulation matrices were calculated to study providers' social support utilization.

RESULTS: Results showed most primary care providers (80%) incorporate social support behaviors into delivery of Sickle Cell Anemia carrier results and most frequently employed social network (61.6%) and informational support (38.4%) behaviors. Providers used tangible aid (8%), esteem (1.6%), and emotional support (9.6%) behaviors less frequently. CONCLUSION:

Cutrona and Suhr's taxonomy may be a useful tool for assessing supportive communication during the delivery of Sickle Cell Anemia carrier status and could be incorporated into population scale assessments of communication quality assurance. PRACTICE IMPLICATIONS:

Primary care providers may need training in how to adapt supportive behaviors to parents' needs during communication of Sickle Cell Anemia carrier status. They also may benefit from specific training about how to use esteem and emotional support. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved. PMID: 22658247 [PubMed - as supplied by publisher] Related citations

2. Anemia. 2012;2012:428137. Epub 2012 May 14. FK228 Analogues Induce Fetal Hemoglobin in Human Erythroid Progenitors. Makala L, Di Maro S, Lou TF, Sivanand S, Ahn JM, Pace BS. Source Department of Pediatrics, Georgia Health Sciences University, Augusta, GA 30912, USA. Abstract

Fetal hemoglobin (HbF) improves the clinical severity of sickle cell disease (SCD), therefore, research to identify HbF-inducing agents for treatment purposes is desirable. The focus of our study is to investigate the ability of FK228 analogues to induce HbF using a novel KU812 dual-luciferase reporter system. Molecular modeling studies showed that the structure of twenty FK228 analogues with isosteric substitutions did not disturb the global structure of the molecule. Using the dual-luciferase system, a subgroup of FK228 analogues was shown to be inducers of HbF at nanomolar concentrations. To determine the physiological relevance of these compounds, studies in primary erythroid progenitors confirmed that JMA26 and JMA33 activated HbF synthesis at levels comparable to FK228 with low cellular toxicity. These data support our lead compounds as potential therapeutic agents for further development in the treatment of SCD. PMCID: PMC3359661 Free PMC Article

PMID: 22655179 [PubMed - in process] Related citations

3. Am J Respir Crit Care Med. 2012 Jun 7. [Epub ahead of print] A Novel Molecular Signature for Elevated Tricuspid Regurgitation Velocity in Sickle Cell Disease. Desai AA, Zhou T, Ahmad H, Zhang W, Mu W, Trevino S, Wade MS, Raghavachari N, Kato GJ, Peters-Lawrence MH, Thiruvoipati T, Turner K, Artz N, Huang Y, Patel AR, Yuan JX, Gordeuk VR, Lang RM, Garcia JG, Machado RF. Source

Medicine, University of Illinois at Chicago, Chicago, Illinois, United States. Abstract RATIONALE:

Pulmonary hypertension defined by right heart catheterization and an increased tricuspid regurgitation jet velocity (TRV≥2.5m/s) on transthoracic echocardiography both independently confer increased mortality in sickle cell disease. OBJECTIVE:

We explored the utility of peripheral blood mononuclear cell-derived gene signatures as biomarkers for an elevated tricuspid regurgitation jet velocity in sickle cell disease. Methods &

MEASUREMENTS: Twenty-seven sickle patients underwent echocardiography and of peripheral blood mononuclear cell isolation for expression profiling and 112 sickle patients were genotyped for SNPs.

MAIN RESULTS: Genome-wide gene and miRNA expression profiles were correlated against tricuspid regurgitation velocity, yielding 631 transcripts and 12 miRNAs. Support vector machine analysis identified a 10-gene signature including GALNT13 (encoding polypeptide N-acetylgalactosaminyltransferase 13) that discriminates patients with and without increased TRV with 100% accuracy. This finding was then validated in a cohort of sickle patients without (n=10) and with pulmonary hypertension (n=10, 90% accuracy). Increased tricuspid regurgitation velocity-related miRNAs revealed strong in silico binding predictions of miR-301a to GALNT13 corroborated by microarray analyses demonstrating an inverse correlation between their expression. A genetic association study comparing patients with an elevated (n=49) versus normal (n=63) tricuspid regurgitation velocity revealed 5 significant SNPs within GALNT13 (p<0.005), four trans-acting (p<2.1e-07) and one cis-acting (p=0.6e-04) expression quantitative trait loci (eQTLs) upstream of the adenosine-A2B receptor gene (ADORA2B). CONCLUSION: These studies validate the clinical utility of genomic signatures as potential biomarkers and highlight ADORA2B and GALNT13 as potential candidate genes in sickle-associated elevated tricuspid regurgitation velocity. PMID: 22679008 [PubMed - as supplied by publisher]
Related citations 4. Hemoglobin. 2012 Jun 19. [Epub ahead of print]
Newborn Screening Shows a High Incidence of Sickle Cell Anemia in Central India.
Jain DL, Sarathi V, Upadhye D, Gulhane R, Nadkarni AH, Ghosh K, Colah RB. Source Department of Paediatrics, Government Medical College , Nagpur-440009 , India.
Abstract
There is limited data on the incidence of sickle cell anemia in Central India; we therefore conducted a study to estimate the incidence of this disease in Central India. Mothers who delivered a live baby at the Government Medical College, Nagpur, India were screened for the presence of the sickle cell hemoglobin {Hb S: [β6 (A3) Glu →Val, GAG >GTG]} using the solubility test within 48 hours of delivery. Infants of mothers who showed the presence of Hb S then underwent Hb analysis by high performance liquid chromatography (HPLC). A total of 8243 mothers was screened, 1178 of whom were positive. One thousand, one hundred and sixty-two infants of mothers with a positive solubility test underwent Hb analysis by HPLC; 530 infants were normal, while 536 were heterozygous for Hb S (sickle cell trait), 88 babies were homozygous for Hb S (sickle cell anemia), while another eight babies had other Hb abnormalities. The incidence of sickle cell anemia was highest in the Scheduled caste group (1:50). We concluded that the incidence of sickle cell anemia is high in central India. PMID: 22712682 [PubMed - as supplied by publisher]
Related citations 5. Infect Genet Evol. 2012 Jun 12. [Epub ahead of print]
The emergence and maintenance of sickle cell hotspots in the Mediterranean. Penman BS, Gupta S, Buckee CO.
Source
Department of Zoology, University of Oxford, UK.
Abstract Genetic disorders of haemoglobin (haemoglobinopathies), including the thalassaemias and sickle cell anemia, abound in historically malarious regions, due to the protection they provide against death from severe malaria. Despite the overall spatial correlation between malaria and these disorders, inter-population differences exist in the precise combinations of haemoglobinopathies observed. Greece and Italy present a particularly interesting case study: their high frequencies of beta thalassaemia speak to a history of intense malaria selection, yet they possess very little of the strongly malaria protective mutation responsible for sickle cell anemia, despite historical migrational links with Africa where high frequencies of sickle cell occur. Twentieth century surveys of beta thalassaemia and sickle cell in Greece, Sicily and Sardinia have revealed striking sickle cell 'hotspots' - places where the frequency of sickle cell approaches that seen in Africa while neighboring populations remain relatively sickle cell free. It remains unclear how these hotspots have been maintained over time without sickle cell spreading throughout the region. Here we use a metapopulation model to show that (i) epistasis between the alpha and beta forms of thalassaemia can restrict the spread of sickle cell through a network of linked subpopulations, and (ii) the emergence of sickle cell hotspots requires relatively low levels of gene flow, but the aforementioned epistasis increases the chances of hotspots forming.
Copyright © 2012. Published by Elsevier B.V.
PMID: 22704979 [PubMed - as supplied by publisher]
Related citations 6. Cytokine. 2012 Jun 14. [Epub ahead of print] Plasma BDNF and PDGF-AA levels are associated with high TCD velocity and stroke in children with sickle cell anemia. Hyacinth HI, Gee BE, Adamkiewicz TV, Adams RJ, Kutlar A, Stiles JK, Hibbert JM. Source Genomics and Hemoglobinopathies Training Program, Department of Microbiology, Biochemistry and Immunology, Morehouse School of Medicine, 720 Westview Drive SW, Atlanta, GA, USA.
Abstract
Sickle cell anemia (SCA) associated cerebrovascular disease includes vascular remodeling, abnormal cerebral blood flow (CBF) and infarction. We studied the relationships between plasma brain derived neurotropic factor (BDNF), platelet derived growth factors (PDGF-AA and -AB/BB) and high trans-cranial Doppler (TCD) velocity as an indication of CBF velocity. Baseline plasma samples from 39 children (19 SCA with abnormal/high TCD [SATCD], 13 SCA with normal TCD [SNTCD] and 7 healthy non-SCA), were assayed for BDNF, PDGF-AA and -AB/BB plus 11 other cytokines. The sensitivity, specificity and usefulness of these biomarkers for stroke prediction was investigated. All subject groups were of similar age and gender distribution. Mean BDNF was significantly higher among SATCD than SNTCD (p=0.004) as was mean PDGF-AA (p=0.001). Similarly, mean PDGF-AA was higher among SCA subjects who developed stroke than those who did not (p=0.012). Elevated BDNF and PDGF-AA were good predictors of the presence of abnormally high CBF velocity and were both associated with severity of anemia. Elevated PDGF-AA predicted risk for stroke development. Stroke incidence and high TCD velocity were associated with elevated BDNF and PDGF-AA. These findings suggest a role for BDNF and PDGF-AA in the patho-physiological mechanism of cerebrovascular disease in SCA. Copyright © 2012 Elsevier Ltd. All rights reserved.
PMID: 22704695 [PubMed - as supplied by publisher]
Related citations

7. Anemia. 2012;2012:492428. Epub 2012 Jun 4. Integrating interactive web-based technology to assess adherence and clinical outcomes in pediatric sickle cell disease. Crosby LE, Barach I, McGrady ME, Kalinyak KA, Eastin AR, Mitchell MJ. Source
College of Medicine, University of Cincinnati, Cincinnati, OH 45221, USA. Abstract
Research indicates that the quality of the adherence assessment is one of the best predictors for improving clinical outcomes. Newer technologies represent an opportunity for developing high quality standardized assessments to assess clinical outcomes such as patient experience of care but have not been tested systematically in pediatric sickle cell disease (SCD). The goal of the current study was to pilot an interactive web-based tool, the Take-Charge Program, to assess adherence to clinic visits and hydroxyurea (HU), barriers to adherence, solutions to overcome these barriers, and clinical outcomes in 43 patients with SCD age 6-21 years. Results indicate that the web-based tool was successfully integrated into the clinical setting while maintaining high patient satisfaction (>90%). The tool provided data consistent with the medical record, staff report, and/or clinical lab data. Participants reported that forgetting and transportation were major barriers for adherence to both clinic attendance and HU. A greater number of self-reported barriers (P < .01) and older age (P < .05) were associated with poorer clinic attendance and HU adherence. In summary, the tool represents an innovative approach to integrate newer technology to assess adherence and clinical outcomes for pediatric patients with SCD. PMCID: PMC3372407 Free PMC Article
PMID: 22701785 [PubMed - in process]
Related citations
8. Ultrasound Med Biol. 2012 Jun 12. [Epub ahead of print]
Stenosis or Hyperperfusion in Sickle Cell Disease - Ultrasound Assessment of Cerebral Blood Flow Volume.
Doepp F, Kebelmann-Betzing C, Kivi A, Schreiber SJ.
Source
Department of Neurology, University Hospital Charité, Berlin, Germany.
Abstract
Increased blood flow velocity (BFV) in basal cerebral arteries measured by transcranial color-coded sonography (TCCS) is a stroke risk factor in sickle cell disease (SCD). Raised BFV may be caused by vessel narrowing or by hyperperfusion. In 44 SCD patients and 14 controls, intracranial arterial BFVs and global cerebral blood flow (CBF) were analyzed by TCCS and extracranial duplex ultrasound, respectively. Magnetic resonance imaging and magnetic resonance angiography were performed in all patients with pathologic intracranial BFV rise. Intracranial BFVs and CBF in SCD were significantly higher than in controls. CBF in SCD correlated with BFV in all intracranial arteries and correlated inversely with age and hemoglobin values. Magnetic resonance angiography failed to demonstrate any stenosis in our SCD patients, thus raised intracranial BFVs must be interpreted as an anemia-dependent cerebral hyperperfusion. These findings suggest that the pathomechanism of stenosis-derived arterio-arterial embolism might be less relevant in SCD-related ischemic stroke, and other factors like small vessel disease or sickle cell-induced microvascular blood clotting have to be considered.
Copyright © 2012 World Federation for Ultrasound in Medicine & Biology. Published by Elsevier Inc. All rights reserved.
PMID: 22698503 [PubMed - as supplied by publisher]
Related citations
9. Cochrane Database Syst Rev. 2012 Jun 13;6:CD005406.
Fluid replacement therapy for acute episodes of pain in people with sickle cell disease.
Okomo U, Meremikwu MM.
Source
Viral Diseases Programme, Medical Research Council (UK), Atlantic Boulevard, Fajara, Gambia, P.O. Box 273.
Abstract
BACKGROUND:
Treating vaso-occlusive painful crises in people with sickle cell disease is complex and requires multiple interventions. Extra fluids are routinely given as adjunct treatment, regardless of the individual's state of hydration with the aim of slowing or stopping the sickling process and thereby alleviating pain.
OBJECTIVES:
To determine the optimal route, quantity and type of fluid replacement for people with sickle cell disease with acute painful crises.
SEARCH METHODS:
We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register which comprises of references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings.We also conducted searches of EMBASE (November 2007), LILACS and www.ClinicalTrials.gov (05 January 2010).Date of most recent search of the Group's Haemoglobinopathies Trials Register: 09 February 2012.

SELECTION CRITERIA:
Randomised and quasi-randomised controlled trials that compared the administration of supplemental fluids adjunctive to analgesics by any route in people with any type of sickle cell disease during an acute painful episode, under medical supervision (inpatient, day care or community). DATA COLLECTION AND ANALYSIS:
No relevant trials have yet been identified.
MAIN RESULTS:
Sixteen trials were identified by the initial search. Of these, 15 were not suitable for inclusion in this review and one study is awaiting further assessment. AUTHORS' CONCLUSIONS:
Treating vaso-occlusive crises is complex and requires multiple interventions. Extra fluids, generally oral or intravenous, are routinely administered during acute painful episodes to people with sickle cell disease regardless of the individual's state of hydration. Reports of their use during these acute painful episodes do not state the efficacy of any single route, type or quantity of fluid compared to another. However, there are no randomised controlled trials that have assessed the safety and efficacy of different routes, types or quantities of fluid. This systematic review identifies the need for a multicentre randomised controlled trial assessing the efficacy and possible adverse effects of different routes, types and quantities of fluid administered to people with sickle cell disease during acute painful episodes. PMID: 22696351 [PubMed - in process]
Related citations 10. Acad Emerg Med. 2012 Jun;19(6):664-72. doi: 10.1111/j.1553-2712.2012.01364.x. Risk Factors for Increased ED Utilization in a Multinational Cohort of Children With Sickle Cell Disease. Glassberg JA, Wang J, Cohen R, Richardson LD, Debaun MR. Source
From the Department of Emergency Medicine (JG, LDR) and the Department of Health Evidence and Policy (JW), Mount Sinai School of Medicine, New York, NY; Pediatrics, Drexel University College of Medicine, Division of Pediatrics, and St. Christopher's Hospital for Children (RC), Philadelphia, PA; and the Departments of Pediatrics and Medicine, Vanderbilt Children's Hospital (MRD), Nashville, TN. Abstract
ACADEMIC EMERGENCY MEDICINE 2012; 19:664-672 © 2012 by the Society for Academic Emergency Medicine ABSTRACT: Objectives: The objective was to identify clinical, social, and environmental risk factors for increased emergency department (ED) use in children with sickle cell disease (SCD). Methods: This study was a secondary analysis of ED utilization data from the international multicenter Silent Cerebral Infarct Transfusion (SIT) trial. Between December 2004 and June 2010, baseline demographic, clinical, and laboratory data were collected from children with SCD participating in the trial. The primary outcome was the frequency of ED visits for pain. A secondary outcome was the frequency of ED visits for acute chest syndrome. Results: The sample included 985 children from the United States, Canada, England, and France, for a total of 2,955 patient-years of data. There were 0.74 ED visits for pain per patient-year. A past medical history of asthma was associated with an increased risk of ED utilization for both pain (rate ratio [RR] = 1.28, 95% confidence interval [CI] = 1.04 to 1.58) and acute chest syndrome (RR = 1.60, 95% CI = 1.03 to 2.49). Exposure to environmental tobacco smoke in the home was associated with 73% more ED visits for acute chest syndrome (RR = 1.73, 95% CI = 1.09 to 2.74). Each $10,000 increase in household income was associated with 5% fewer ED visits for pain (RR = 0.95, 95% CI = 0.91 to 1.00, p = 0.05). The association between low income and ED utilization was not significantly different in the United States versus countries with universal health care (p = 0.51). Conclusions: Asthma and exposure to environmental tobacco smoke are potentially modifiable risk factors for greater ED use in children with SCD. Low income is associated with greater ED use for SCD pain in countries with and without universal health care. © 2012 by the Society for Academic Emergency Medicine. PMCID: PMC3375948 [Available on 2013/6/1] PMID: 22687181 [PubMed - in process]
Related citations
Sickle Cell Conferences and Events
July 5-7, 2012 Venetian / Palazzo Hotel Las Vegas - Association of Nigerian Physicians in the Americas “The 18th Annual ANPA Convention & Scientific Assembly will be held July 5-7, 2012 at the Venetian / Palazzo Hotel in Las Vegas, Nevada. The theme for this year’s assembly will be “Righting the Wrong in Sickle Cell Disease”, and “Information Technology in Medical Practice”. The ANPA Annual Meeting features three full-day meetings, providing participants’ knowledge related to the challenges facing minority health care providers in the provision of clinical and therapeutic services for diseases and conditions related to a variety of medical specialties. The meeting will feature member lecturers providing state of the art technological advances that will impact the practice of medicine. The annual convention is of great value to our membership and other health care professionals by providing them with opportunities to keep abreast of developments in various areas of health care delivery and also offering continuing medical education (CME) credits. For more information please visit www.anpa.org or call 913.402.7102. “
September 25 – 29, 2012 The Sickle Cell Disease Association of America 40th Annual Conference Baltimore MD The conference will be held September 25 – 29, 2012 at the Baltimore Marriott Waterfront Hotel in Baltimore, MD. We promise that this will be one of the most educational and empowering events to take place within the sickle cell community! http://www.sicklecelldisease.org/index.cfm?page=annual-convention May Sickle Cell News
June 19 World Sickle Cell Day In the year 2008, the General Assembly of the United Nations adopted a resolution which determines sickle cell disease as a public health problem and one of the world’s foremost genetic disease, requiring heightened awareness and activism, diagnosis and management. The result of the resolution was that June 19th was declared as World Sickle Cell to increase awareness of the condition all over the world.
The World Health Organization (WHO) has started work to promote a world wide agenda to address hemoglobin dysfunctions. WHO has made a commitment to:
Recognize that sickle cell disease is a major health issue. Increase awareness of the world community regarding sickle cell disease. Eliminate harmful and wrong prejudices associated with sickle cell disease.
Urges member countries where sickle cell disease is a public health problem to establish health programs at the national level and operate specialized centers for sickle cell disease and facilitate access to treatment. Promote satisfactory access to medical services to people affected with sickle cell disease.
Provide technical support to all countries to prevent and manage sickle cell disease. Promote and help research to improve the lives of people affected with sickle cell disease.
The World Sickle Cell day is celebrated across the globe with special emphasis in African Nations and Asia. The celebrations include a press, media campaigns, music shows, cultural activities, and talk shows.
The main emphasis is hence on educating medical professionals, care givers, and associated personnel about prevention, research, and resources to minimize the complications due to sickle cell disease. Hence June 19th is devoted mainly to spread awareness, through talks, seminars, pamphlets, literature and consultations.
In honor of World Sickle Cell day, Scell Media is offering afree edition of SICKLE CELL news at http://www.scdjournal.com/free.html NIH SELECTS 11 CENTERS OF EXCELLENCE IN PAIN EDUCATIONNIH Pain Consortium partners with selected health professional schools The National Institutes of Health Pain Consortium has selected 11 health professional schools as designated Centers of Excellence in Pain Education (CoEPEs). The CoEPEs will act as hubs for the development, evaluation, and distribution of pain management curriculum resources for medical, dental, nursing and pharmacy schools to enhance and improve how health care professionals are taught about pain and its treatment. Twenty institutes, centers and offices at NIH are involved in the consortium. "Virtually all health professionals are called upon to help patients suffering from pain," said NIH Director Francis S. Collins, M.D., Ph.D. "These new centers will translate current research findings about pain management to fill what have been recognized as gaps in curricula so clinicians in all fields can work with their patients to make better and safer choices about pain treatment." The new Centers of Excellence in Pain Education were selected by the NIH Pain Consortium after a contract solicitation process and review. The awardees are the University of Washington, Seattle; the University of Pennsylvania Perelman School of Medicine, Philadelphia; Southern Illinois University, Edwardsville; the University of Rochester, N.Y.; the University of New Mexico, Albuquerque; the Harvard School of Dental Medicine, Boston; the University of Alabama at Birmingham; the Thomas Jefferson University School of Medicine, Philadelphia; the University of California, San Francisco; the University of Maryland, Baltimore; and the University of Pittsburgh. Many of the new CoEPEs will build curricula across several of their health professional schools. Chronic pain affects approximately 100 million Americans, costing up to $635 billion in medical treatment and lost productivity, and producing immeasurable suffering for people of every age. Yet, pain treatment is not taught extensively in many health professional schools, and clinical approaches can be inconsistent. The curricula developed by the CoEPEs will advance the assessment, diagnosis, and safe treatment of a wide variety of pain conditions while minimizing the abuse of opioid pain relievers. They will include multiple case-based scenarios, many taught in video or electronic formats popularly used in contemporary academic settings. Types of pain of particular interest to the NIH Pain Consortium are rehabilitation pain, arthritis and musculoskeletal pain, neuropathic pain, and headache pain. In addition, the curricula will teach about the pathophysiology and pharmacology of pain and its treatment, the latest research in complementary and integrative pain management, factors that contribute to both under- and over-prescribing of pain medications, and how pain manifests itself differently by gender, in children, in older adults and in diverse populations. "While opioid pain medications have improved the quality of life for millions who suffer from pain, they can also produce harmful consequences, including addiction," said NIDA Director Nora D. Volkow, M.D., a member of the consortium's executive committee. "These new CoEPEs can help prevent negative outcomes by designing curricula that promote appropriate screening and management of chronic pain patients, along with education about the risks of prescription drug abuse." NIH supports the full spectrum of pain research from basic understanding of pain mechanisms through translation of discoveries into treatments and prevention strategies. In FY 2011, NIH supported $386 million in research focused on chronic pain, not including the related diseases that often cause chronic pain, such as cancer, arthritis, diabetes, and stroke. The details of individual pain-focused grants are publicly available on the NIH RePORTER website . Enhancing education of pain care professionals was highlighted in the June 2011 Institute of Medicine report, "Relieving Pain in America: A Blueprint for Transforming Prevention, Care, Education, and Research." About the NIH Pain Consortium: The NIH Pain Consortium was established to enhance pain research and promote collaboration among researchers across the many NIH Institutes and Centers that have programs and activities addressing pain. Its goals include the development of a comprehensive and forward-thinking pain research agenda for the NIH; to identify key opportunities in pain research within NIH and the scientific community; to increase visibility for pain research; and to pursue the pain research agenda through Public-Private partnerships. For more information on the Pain Consortium, visit .
New Book Resource
"Living With Sickle Cell Disease: The Struggle to Survive" A Memoir by Author Judy Gray Johnson with Leroy Williams Jr. This is a well written self- published life account of growing up with sickle cell disease in the 1960s and the problems with treatment into 2012. There are many accounts of unfavorable Emergency department encounters commonly shared by those with sickle cell disease. The book is factual and medically accurate. http://www.judygrayjohnson.com/home.html
http://www.blacknews.com/news/living_with_sickle_cell_disease_judy_gray_johnson101.shtml Video Resources
Schedule of Free CDC 2012 Webinars 6/28: Sickle Cell Trait – What Every CBO Needs to KnowDr. Lanetta Jordan, Memorial Regional Hospital
7/26: Improved Survival of Children and Adolescents with Sickle Cell DiseaseDr. Charles Quinn, Cincinnati Children's Hospital Medical Center 8/23: Translating Research to PolicyDr. Shawn Bediako, University of Maryland, Baltimore County
9/27: Improving Quality of Care for Sickle Cell Pediatrics in the Emergency DepartmentDr. James Moses, Boston Medical Center 10/25: Strategies from the Field – Data Collection and HarmonizationCDC’s Division of Blood Disorders and RuSH Project States November/December:--- No Webinars---
See all the previous CDC Sickle Cell Webinars and instructions to view or listen to future events see: http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-health
Free ASH webinars http://hematology.org/Meetings/Webinars/6832.aspx
Pain in Sickle cell disease and Stroke, Renal Disease, and Treatment with Hydroxyurea in Adults with Sickle Cell Disease Articles in the Medical Literature for May 1. Cochrane Database Syst Rev. 2012 May 16;5:CD004344. Treatment for avascular necrosis of bone in people with sickle cell disease. Martí-Carvajal AJ,Solà I,Agreda-Pérez LH. Source
Universidad de Carabobo and Iberoamerican Cochrane Network, Valencia, Edo. Carabobo, Venezuela. Abstract
BACKGROUND:
Avascular necrosis of bone is a frequent and severe complication of sickle cell disease and its treatment is not standardised. OBJECTIVES:
To determine the impact of any surgical procedure compared with other surgical interventions or non-surgical procedures, on avascular necrosis of bone in people with sickle cell disease in terms of efficacy and safety. SEARCH METHODS:
We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Haemoglobinopathies Trials Register, comprising references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings. Additional trials were sought from the reference lists of papers identified by the search strategy.Date of the most recent search of the Group's Haemoglobinopathies Trials Register: 21 February 2012.
SELECTION CRITERIA:
Randomised clinical trials comparing specific therapies for avascular necrosis of bone in people with sickle cell disease. DATA COLLECTION AND ANALYSIS:
Each author independently extracted data and assessed trial quality. Since only one trial was identified, meta-analysis was not possible. MAIN RESULTS:
One trial (46 participants) was eligible for inclusion. After randomisation eight participants were withdrawn, mainly because they declined to participate in the trial. Data were analysed for 38 participants at the end of the trial. After a mean follow up of three years, hip core decompression and physical therapy did not show clinical improvement when compared with physical therapy alone using the score from the original trial (an improvement of 18.1 points for those treated with intervention therapy versus an improvement of 15.7 points with control therapy). There was no significant statistical difference between groups regarding major complications (hip pain, relative risk (RR) 0.95 (95% confidence interval (CI) 0.56 to 1.60; vaso-occlusive crises, RR 1.14 (95% CI 0.72 to 1.80); and acute chest syndrome, RR 1.06 (95% CI 0.44 to 2.56)). This trial did not report results on mortality or quality of life. AUTHORS' CONCLUSIONS:
We found no evidence that adding hip core decompression to physical therapy achieves clinical improvement in people with sickle cell disease with avascular necrosis of bone compared to physical therapy alone. However, we highlight that our conclusion is based on one trial with high attrition rates. Further randomised controlled trials are necessary to evaluate the role of hip-core depression for this clinical condition. Endpoints should focus on participants' subjective experience (e.g. quality of life and pain) as well as more objective 'time-to-event' measures (e.g. mortality, survival, hip longevity). The availability of participants to allow adequate trial power will be a key consideration for endpoint choice. PMID: 22592696 [PubMed - in process]
Related citations
2. J Pediatr Hematol Oncol. 2012 May 10. [Epub ahead of print]
Single-session Biofeedback-assisted Relaxation Training in Children With Sickle Cell Disease. Myrvik MP,Campbell AD,Butcher JL.
Source
*Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI †Department of Pediatrics, University of Michigan, Ann Arbor, MI. Abstract
Sickle cell disease (SCD) pain remains difficult to manage. This pilot study evaluated single-session biofeedback-assisted relaxation training (BART) for SCD pain in children. Ten participants (mean=12.1 y) completed a 1-hour BART session using thermal biofeedback and home practice. Participants demonstrated changes in peripheral body temperature after the training session (d=1.08) and at 6-week follow-up (d=0.97) relative to their baseline visit. Reductions in patient-reported pain frequency were found after completing BART. Health-related quality of life and pain-related disability improvements were observed; however, effect sizes were small to minimal. Single-session BART may be a promising, complementary approach to medical management of pediatric SCD pain. PMID: 22584783 [PubMed - as supplied by publisher]
Related citations
3. BMC Blood Disord. 2012 May 14;12(1):5. [Epub ahead of print]
Zinc finger nucleases for targeted mutagenesis and repair of the sickle-cell disease mutation: An insilico study.
Wayengera M.
Abstract
ABSTRACT: BACKGROUND: Sickle cell disease (or simply, SCD) is an inherited hemoglobinopathy which is mostly prevalent among persons of African descent. SCD results from a monogenic (Hemoglobin, beta) point-mutation (substitution of the base Adenine with Thymine at position six) that leads to replacement of the amino acid glutamic acid (E) with valine (V). Management of SCD within resource-poor settings is largely syndromic, since the option of cure offered by bone-marrow transplantation (BMT) is risky and unaffordable by most affected individuals. Despite previous reports of repair and inhibition of the sickle beta-globin gene and messenger ribonucleic acids (mRNAs), respectively in erythrocyte precursor cells via gene-targeting using an oligomer-restriction enzyme construct and either ribozyme- or RNA-DNA chimeric oligonucleotides (or simply third strand binding), gene-therapy to treat SCD still remains largely preclinical. In the wake of the advances in target- gene- mutagenesis and repair wrought by zinc finger nuclease (ZFN) technology, it was hypothesized that SCD may be cured by the same. The goal of this study thus, was constructing a database of zinc finger arrays (ZFAs) and engineering ZFNs, that respectively bind and cleave within or around specific sequences in the sickle hemoglobin, beta (betaS) gene. Methods and results First, using the complete 1606 genomic DNA base pair (bp) sequences of the normal hemoglobin-beta (betaA) chain gene, and the ZiFiT-CoDA-ZFA software preset at default, 57 three-finger arrays (ZFAs) that specifically bind 9 base-pair sequences within the normal hemoglobin-beta chain, were computationally assembled. Second, by serial linkage of these ZFAs to the Flavobacterium okeanokoites endonuclease Fok Ifour ZFNs with unique specificity to >24 bp target-sequences at the genomic contextual positions 82, 1333, 1334, and 1413 of the betaA chain-gene were constructed in-silico. Third, localizing the pointmutation of SCD at genomic contextual position 69-70-71- bp (a position corresponding to the 6th codon) of the betaA chain-gene, inspired the final design of five more ZFNs specific to >24 bp target-sequences within the 8,954 bp that are genomically adjacent to the 5' end of the betaA chain-gene. CONCLUSIONS: This set of 57 ZFAs and 9 ZFNs offers us gene-therapeutic precursors for the targeted mutagenesis and repair of the SCD mutation or genotype. Free Article
PMID: 22583379 [PubMed - as supplied by publisher]
Related citations
4. J Pain Symptom Manage. 2012 May 11. [Epub ahead of print]
Detecting the Emergence of Chronic Pain in Sickle-Cell Disease.
Hollins M,Stonerock GL,Kisaalita NR,Jones S,Orringer E,Gil KM.
Source
Department of Psychology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA. Abstract
CONTEXT:
Sickle-cell disease (SCD) is an inherited hematological disease marked by intense pain. Early in life the pain is episodic, but it becomes increasingly chronic in many cases. Little is known about this emergence of a chronic pain state.
OBJECTIVES:
The goal of this study was to determine whether adult SCD patients whose pain is still largely episodic show early signs of the disturbed pain processing (hyperalgesia and increased temporal summation) and cognition (hypervigilance and catastrophizing) that are characteristic of a chronic pain state. METHODS:
SCD patients (n=22) and healthy controls (n=52) received noxious pressure stimulation for up to three minutes and periodically reported pain intensity and unpleasantness on 0-10 scales, allowing the rate of pain increase (temporal summation) to be determined. Pain intensity discrimination also was measured, and attitudes toward pain were assessed.
RESULTS:
There were no overall differences in pain ratings or temporal summation between patient and control groups. However, patients' experimental pain ratings tended to increase with age and those reporting a history of very painful episodes showed particularly rapid temporal summation of pain unpleasantness. Patients were significantly impaired at discriminating intensities of noxious stimulation. Patients were more hypervigilant than controls, but catastrophizing was elevated only during pain episodes.
CONCLUSION:
Most SCD patients whose pain remits entirely between episodes are not in a chronic pain state, but some-those who are older and have a history of highly painful episodes-appear to be transitioning into it. These early signs of disturbed processing may aid clinicians seeking to forestall disease progression. Copyright © 2012 U.S. Cancer Pain Relief Committee. Published by Elsevier Inc. All rights reserved. PMID: 22579409 [PubMed - as supplied by publisher]
Related citations
5. J Pediatr Psychol. 2012 May 7. [Epub ahead of print]
Evaluating the Protective Role of Racial Identity in Children with Sickle Cell Disease.
Lim CS,Welkom JS,Cohen LL,Osunkwo I.
Source
Department of Clinical & Health Psychology, University of Florida, Department of Psychology, Georgia State University and Children's Healthcare of Atlanta, Emory University School of Medicine.
Abstract
OBJECTIVE:
This study examined whether racial identity moderates the relation between pain and quality of life (QOL) in children with sickle cell disease (SCD). METHODS:
100 children 8-18 years of age with SCD participated during a regularly scheduled medical visit. Children completed questionnaires assessing pain, QOL, and regard racial identity, which evaluates racial judgments. RESULTS:
Analyses revealed that regard racial identity trended toward significance in moderating the pain and physical QOL relation, (β = -0.159, t(93) = -1.821, p = 0.07), where children with low pain and high regard reported greater physical QOL than children with low pain and low regard. Regard racial identity did not moderate the relation between pain and other QOL dimensions. Pain significantly predicted all dimensions of QOL and regard racial identity significantly predicted social QOL.
CONCLUSIONS:
Racial identity may be important to consider in future research examining QOL in children with SCD. PMID: 22566667 [PubMed - as supplied by publisher]
Related citations
6. Pediatr Blood Cancer. 2012 May 4. doi: 10.1002/pbc.24179. [Epub ahead of print] Indications and complications of transfusions in sickle cell disease.
Smith-Whitley K,Thompson AA.
Source
Children's Hospital of Philadelphia, Philadelphia, Pennsylvania. whitleyk@email.chop.edu. Abstract
Red cell transfusion remains an important part of the management of acute and chronic complications in SCD. The ongoing and emerging uses of transfusions in SCD may have significant benefits; however, the potential complications of transfusions also deserve careful consideration. In this report we review current indications for transfusions, transfusion complications, modifications of transfusion practices to mitigate risk, and potential considerations to improve transfusion outcomes. Pediatr Blood Cancer © 2012 Wiley Periodicals, Inc.
Copyright © 2012 Wiley Periodicals, Inc.
PMID: 22566388 [PubMed - as supplied by publisher]
Related citations
7. Blood. 2012 May 4. [Epub ahead of print]
Red blood cell alloimmunization in sickle cell disease: pathophysiology, risk factors, and transfusion management. Yazdanbakhsh K,Ware RE,Noizat-Pirenne F.
Source
Laboratory of Complement Biology, New York Blood Center, New York, New York, United States; Abstract
Red blood cell transfusions have reduced morbidity and mortality for patients with sickle cell disease (SCD). Transfusions can lead to erythrocyte alloimmunization, however, with serious complications for the patient including life-threatening delayed hemolytic transfusion reactions (DHTRs) and difficulty in finding compatible units, which can cause transfusion delays. In this review, we will discuss the risk factors associated with alloimmunization with emphasis on possible mechanisms that can trigger DHTR in SCD, and describe the challenges in transfusion management of these patients, including opportunities and emerging approaches for minimizing this life-threatening complication.
PMID: 22563085 [PubMed - as supplied by publisher]
Related citations
8. Cold Spring Harb Perspect Med. 2012 May;2(5):a011825.
Hematopoietic stem cell transplantation in thalassemia and sickle cell anemia.
Lucarelli G,Isgrò A,Sodani P,Gaziev J.
Source
International Center for Transplantation in Thalassemia and Sickle Cell Anemia-Mediterranean Institute of Hematology, Policlinic of the University of Rome Tor Vergata, Tor Vergata, Italy.
Abstract
The globally widespread single-gene disorders β-thalassemia and sickle cell anemia (SCA) can only be cured by allogeneic hematopoietic stem cell transplantation (HSCT). HSCT treatment of thalassemia has substantially improved over the last two decades, with advancements in preventive strategies, control of transplant-related complications, and preparative regimens. A risk class-based transplantation approach results in disease-free survival probabilities of 90%, 84%, and 78% for class 1, 2, and 3 thalassemia patients, respectively. Because of disease advancement, adult thalassemia patients have a higher risk for transplant-related toxicity and a 65% cure rate. Patients without matched donors could benefit from haploidentical mother-to-child transplantation. There is a high cure rate for children with SCA who receive HSCT following myeloablative conditioning protocols. Novel non-myeloablative transplantation protocols could make HSCT available to adult SCA patients who were previously excluded from allogeneic stem cell transplantation. PMCID: PMC3331690Free PMC Article
PMID: 22553502 [PubMed - in process]
Related citations
9. Sultan Qaboos Univ Med J. 2012 May;12(2):177-83. Epub 2012 Apr 9.
Adult Sickle Cell Disease: A Five-year Experience of Intensive Care Management in a University Hospital in Oman.
Tawfic QA,Kausalya R,Al-Sajee D,Burad J,Mohammed AK,Narayanan A.
Source
Departments of Anaesthesia & Intensive Care and.
Abstract
OBJECTIVES:
Sickle cell disease (SCD) is an inherited disease caused by an abnormal type of haemoglobin. It is one of the most common genetic blood disorders in the Gulf area, including Oman. It may be associated with complications requiring intensive care unit (ICU) admission. This study investigated the causes of ICU admission for SCD patients.
METHODS:
This was a retrospective analysis of all adult patients ≥12 years old with SCD admitted to Sultan Qaboos University Hospital (SQUH) ICU between 1st January 2005 and 31st December 2009.
RESULTS:
A total number of 49 sickle cell patients were admitted 56 times to ICU. The reasons for admission were acute chest syndrome (69.6%), painful crises (16.1%), multi-organ failure (7.1%) and others (7.2%). The mortality for SCD patients in our ICU was 16.1%. The haemoglobin (Hb) and Hb S levels at time of ICU admission were studied as predictors of mortality and neither showed statistical significance by Student's t-test. The odds ratio, with 95% confidence intervals, was used to study other six organ supportive measures as predictors of mortality. The need for inotropic support and mechanical ventilation was a good predictor of mortality. While the need for non-invasive ventilation, haemofiltration, blood transfusions and exchange transfusions were not significant predictors of mortality.
CONCLUSION:
Acute chest syndrome is the main cause of ICU admission in SCD patient. Unlike other supportive measures, the use of inotropic support and/or mechanical ventilation is an indicator of high mortality rate SCD patient. PMCID: PMC3327564Free PMC Article
Sickle Cell Conferences and Events
Friday, June 8,2012. Albany NY - The NYS Perinatal Association holds an annual education conference This year Ed Kloza MS CGC will be a plenary speaker on Friday, June 8,2012. This is an opportunity to learn more about NIPD and have an opportunity to have questions answered.Conference registration offers the option of a one-day registration. The Role of Non-Invasive Prenatal Genetic Testing Using Maternal Plasma— Ed Kloza, MS, CGC, Senior Re-search Coordinator, Institute for Preventive Medicine & Medical Screening, Women & Infants Hospital, Providence, RI On Line Conference brochure and registration: www.nysperinatal.org
SO CAL CELL-A-BRATES THE 4TH WORLD SICKLE CELL DAY
WHAT: A United Nations resolution made June 19 World Sickle Cell Day, to promote awareness because “Sickle Cell is a Global Health Problem!” The African American Blood Drive and Bone Marrow Registry for Sickle Cell Disease Awareness and Friends will cell-a-brate while bring awareness to our So Cal Community. WHEN: Saturday,June 16, 2012 from 11A.M. – 3 P.M.

WHERE:LRH Community Center Auditorium, [8039 S. Vermont, Los Angeles CA 90044] Contact Nita Thompson atAA4SCDAwareness@aol.com or (323) 750-1087 to register for this event and to sign up to donate blood. We look forward to your presence and participation in World Sickle Cell Day 2012. July 5-7, 2012 Venetian / Palazzo Hotel Las Vegas - Association of Nigerian Physicians in the Americas“The 18th Annual ANPA Convention & Scientific Assembly will be held July 5-7, 2012 at the Venetian / Palazzo Hotel in Las Vegas, Nevada. The theme for this year’s assembly will be “Righting the Wrong in Sickle Cell Disease”, and “Information Technology in Medical Practice”. The ANPA Annual Meeting features three full-day meetings, providing participants’ knowledge related to the challenges facing minority health care providers in the provision of clinical and therapeutic services for diseases and conditions related to a variety of medical specialties. The meeting will feature member lecturers providing state of the art technological advances that will impact the practice of medicine. The annual convention is of great value to our membership and other health care professionals by providing them with opportunities to keep abreast of developments in various areas of health care delivery and also offering continuing medical education (CME) credits. For more information please visit www.anpa.org or call 913.402.7102. “

September 25 – 29, 2012 The Sickle Cell Disease Association of America 40th Annual Conference Baltimore MD The conference will be held September 25 – 29, 2012 at the Baltimore Marriott Waterfront Hotel in Baltimore, MD. We promise that this will be one of the most educational and empowering events to take place within the sickle cell community! http://www.sicklecelldisease.org/index.cfm?page=annual-convention Related citations

Sickle Cell News for March 2012 NIH LAUNCHES CONSUMER-FRIENDLY TIPS SERIES ON COMPLEMENTARY HEALTH PRACTICES A new series of monthly health tips, Time to Talk Tips, will provide consumers with easy-to-read information on complementary health practices. The effort is managed by the National Center for Complementary and Alternative Medicine (NCCAM) at the National Institutes of Health. A resource in NCCAM's Time to Talk campaign, the series highlights specific health topics, such as the safe use of dietary supplements, natural products used for the flu and colds, and mind and body approaches used to manage symptoms of a variety of conditions. The series will include simple tips, such as: Taking vitamin C regularly does not reduce the likelihood of getting a cold but may improve some cold symptoms, and some dietary supplements may interact with medications (prescription or over-the-counter) or other dietary supplements. "An increasing number of consumers and patients use the Internet to answer health questions, yet the information they find can be overwhelming and is not always relevant or credible," said Josephine P. Briggs, M.D., director of NCCAM. "This series will give people evidence-based facts to help them make more informed health care decisions. Health care providers can also provide these tips to their patients who are interested in learning more about complementary health practices." The tips accompany topics found in the NCCAM Clinical Digest, a monthly e-newsletter for health care providers that addresses the state of science on complementary health practices for a variety of health conditions. These same topics will also be discussed in monthly Twitter chats (@NCCAM) < https://twitter.com/#!/nccam>, allowing the public to interact with the center, ask questions, and receive answers in real time. Nearly 40 percent of Americans use some form of complementary health practice, according to the 2007 National Health Interview Survey. Through its Time to Talk campaign, NCCAM encourages patients and providers to talk about the use of complementary health practices by offering tools and resources --such as wallet cards and tip sheets --that are available for free at http://nccam.nih.gov/timetotalk The mission of the National Center for Complementary and Alternative Medicine (NCCAM) is to define, through rigorous scientific investigation, the usefulness and safety of complementary and alternative medicine interventions and their roles in improving health and health care. For additional information, call NCCAM's Clearinghouse toll free (in the U.S.) at 1-888-644-6226, or visit the NCCAM Web site at http://nccam.nih.gov. SCInfo.org Poster Presentation

Allan Platt1, James Eckman1, Adrya Stembridge1,Talat Khan 2, Lewis L. Hsu 2 1Emory University, Atlanta, GA,2 University of Illinois , Chicago, IL
HYPOTHESIS: The most visits are on webpages for the primary target audience: patients and families with sickle cell. METHODS: Website usage tracking was added in February 2011, with Google Analytics standard automated technology for off-site web analytics. The measures, which do not track individually identifiable information, are commonly used for commercial websites (Busby,Brown, WAA 2008): Landing Page, Visits, Pages/Visit,Average Time on Site, % New Visits, and Bounce Rate. Website usage from February 1 through December 17, 2011 are reported. RESULTS: The Sickle Cell Information Center homepage had 21,946 visits, with an average of 3.59 pages per visit and 2 minutes 54 seconds per visit. The 10 most-visited webpages are shown in Table 1.
CONCLUSION: The webpages most frequently visited in the Sickle Cell Information Center website are for the target audiences of patients and families. Continued monitoring of usage statistics will provide a priority list for the Advisory Board to regularly review and ensure that health information is up to date. We will develop mechanisms to keep a current list of sickle cell clinical centers on the website. REFERENCE: Burby J, Brown A, and WAA Standards Committee. Web Analytics Definitions Vol 1. 2008 www.webanalyticsassociation.org/resource/resmgr/pdf_standards/webanalyticsdefinitionsvol1.pdf
SUPPORT: Website is supported by the Southeast Genetics Collaborative. Please verify your clinic information athttp://scinfo.org/sickle-cell-clinics-contacts-and-resources and let us know if there are any updates atlewhsu@uic.edu Online Newsletters
Sickle Cell Society based in London, England latest e-news letter is: http://issuu.com/communityeventsuk/docs/sickle_cell_societywinter_final?mode=window&backgroundColor=%23222222 AFRICAN SC NEWS & WORLD REPORT at www.scdjournal.com/news-special
1. ObtainFree Special Edition ofSICKLE CELL NEWSatwww.scdjournal.com/free.html
2. Obtain our digital editions, self-help books, memoirs, etc athttp://www.scdjournal.com/scdreader.html
2. Let's give a Talk on sickle cell at your educational/religious institution.register here
2012 INTERNATIONAL PAIN POLICY FELLOWSHIP ANNOUNCED
The Pain & Policy Studies Group is pleased to announce the2012 International Pain Policy Fellowship. Now entering its 6th year, the goal of the Fellowship Program is to improve the availability of opioid analgesics for pain management in developing countries for patients with pain from cancer, HIV/AIDS, or other chronic diseases.

Applications will be accepted from health professionals (e.g. oncologists, AIDS clinicians, pharmacists, pain and palliative care physicians), health care administrators, policy experts, social workers or lawyers from low or middle income countries who have an interest in drug policy advocacy to improve availability of opioid analgesics for pain relief and palliative care. [Please note that Fellowships have previously been awarded to the following countries: Argentina, Armenia, Colombia, Georgia, Guatemala, Jamaica, Kenya, Moldova, Nepal, Nigeria, Panama, Serbia, Sierra Leone, Uganda, and Vietnam. As such, except in special cases, it is unlikely that additional Fellowships will be awarded to applicants from these countries.] The two-year Fellowship program will include training, mentoring, and an in-country pain policy project. A salary stipend will be given to cover a portion of each fellow’s professional salary as the Fellow must commit to spending approximately 8 hours per week of his/her professional time on the project. Applicants must have a sincere interest in improving access to opioid analgesics for pain management through drug policy advocacy. Fellows are required to participate in a five-day learner-centered training program at the University of Wisconsin in Madison, Wisconsin from 6-10 August 2012. The training program will cover the relationships between disease, pain, palliative care, and inadequate opioid availability, and will use WHO Guidelines to examine regulatory barriers and resources for evaluating national policy, as well as examples of their use. Each Fellow will be responsible for outlining their drug availability project plan and timeline during the training program in Madison, and then incorporating it into their in-country pain policy project. The deadline for receipt of completed applications is Friday, 20 April 2012.

This program is supported byLIVESTRONG and directed by the Pain & Policy Studies Group of the University of Wisconsin Comprehensive Cancer Center. More information, including the application, are attached to this message. These materials are also available atwww.painpolicy.wisc.edu. Video Resources

New Posting: CDC Webinar 2/23/12:Medical Home Model for Sickle Cell Disease Dr. Michael DeBaun, Vanderbilt University mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDCHome.wmv Schedule of Free CDC 2012 Webinars
4/26: Sickle Cell – Adult Providers NetworkDr. Kathryn Hassell, University of Colorado School of Medicine
5/24: Sickle Cell Disease and Emergency Department UseDr. Paula Tanabe, Duke University School of Nursing
6/28: Sickle Cell Trait – What Every CBO Needs to KnowDr. Lanetta Jordan, Memorial Regional Hospital
7/26: Improved Survival of Children and Adolescents with Sickle Cell DiseaseDr. Charles Quinn, Cincinnati Children's Hospital Medical Center
8/23: Translating Research to PolicyDr. Shawn Bediako, University of Maryland, Baltimore County

9/27: Improving Quality of Care for Sickle Cell Pediatrics in the Emergency DepartmentDr. James Moses, Boston Medical Center
10/25: Strategies from the Field – Data Collection and HarmonizationCDC’s Division of Blood Disorders and RuSH Project States
November/December:--- No Webinars---
See all the previous CDC Sickle Cell Webinars and instructions to view or listen to future events see: http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-health
John Hopkins - Urban Health Radio Program (UHRP)
"Breaking It Down: Our Health Our Way" Features Sickle Cell talks in February
WOLB 1010 AM Thursdays from 11 a.m. - 12 p.m. Listen live on the web at http://www.hopkinsmedicine.org/diversity_cultural_competence/urban_health_radio_program/
Free ASH webinars http://hematology.org/Meetings/Webinars/6832.aspx Pain in Sickle cell disease and Stroke, Renal Disease, and Treatment with Hydroxyurea in Adults with Sickle Cell Disease Articles in the Medical Literature for March
1. Am J Respir Crit Care Med. 2012 Mar 23. [Epub ahead of print]
Pulmonary Complications of Sickle Cell Disease.
Miller AC,Gladwin MT.
Source
Division of Pulmonary, Allergy, and Critical Care Medicine, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, United States. Abstract
Sickle cell disease (SCD) is a common monogenetic disorder with high associated morbidity and mortality. The pulmonary complications of SCD are of particular importance, as acute chest syndrome and pulmonary hypertension have the highest associated mortality rates within this population. This manuscript will review the pathophysiology, diagnosis, and treatment of clinically significant pulmonary manifestations of SCD including acute chest syndrome, asthma, and pulmonary hypertension in adult and pediatric patients. Clinicians should be vigilant in screening and treating such co-morbidities in order to improve patient outcomes.
PMID: 22447965 [PubMed - as supplied by publisher]
2. J Pediatr Health Care. 2012 Mar 23. [Epub ahead of print]
Facilitating Pediatric Patient-Provider Communications Using Wireless Technology in Children and Adolescents With Sickle Cell Disease. Jacob E,Pavlish C,Duran J,Stinson J,Lewis MA,Zeltzer L.
Abstract
INTRODUCTION:
Use of wireless devices has the potential to transform delivery of primary care services for persons with sickle cell disease (SCD). The study examined text message communications between patients and an advanced practice registered nurse (APRN) and the different primary care activities that emerged with use of wireless technology.
METHODS:
Patients (N = 37; mean age 13.9 ± 1.8 years; 45.9% male and 54.1% female) engaged in intermittent text conversations with the APRN as part of the Wireless Pain Intervention Program. Content analyses were used to analyze the content of text message exchanges between patients and the APRN. RESULTS:
The primary care needs that emerged were related to pain and symptom management and sickle cell crisis prevention. Two primary care categories (collaborating and coaching), four primary care subcategories (screening, referring, informing, and supporting), and 16 primary care activities were evident in text conversations. DISCUSSION:
The use of wireless technology may facilitate screening, prompt management of pain and symptoms, prevention or reduction of SCD-related complications, more efficient referral for treatments, timely patient education, and psychosocial support in children and adolescents with SCD. Copyright © 2012 National Association of Pediatric Nurse Practitioners. Published by Mosby, Inc. All rights reserved. PMID: 22446036 [PubMed - as supplied by publisher]
3. Br J Sports Med. 2012 Apr;46(5):325-30.
Sickle cell trait associated with a RR of death of 37 times in national collegiate athletic association football athletes: a database with 2 million athlete-years as the denominator.
Harmon KG,Drezner JA, Klossner D, Asif IM. Source
Departments of Family Medicine and Sports Medicine and Orthopaedics, 4060 East Stevens Circle, Hall Health Sports Medicine Clinic, University of Washington, Seattle, WA 98195, USA. kharmon@u.washington.edu. Abstract
Background This study examines sickle cell trait (SCT) as a cause of sudden death in National Collegiate Athletic Association (NCAA) athletes and explores the cost-effectiveness of different screening models. Methods The authors reviewed the cause of all cases of sudden death in NCAA student-athletes from January 2004 through December 2008. The authors also explored the cost-effectiveness of screening for this condition in selected populations assuming that identifying athletes with SCT would prevent death. Results There were 273 deaths and a total of 1 969 663 athlete-participant-years. Five (2%) deaths were associated with SCT. In football athletes, there were 72 (26%) deaths. Of these, 52 (72%) were due to trauma unrelated to sports activity and 20 (28%) were due to medical causes; nine deaths were cardiac (45%), five were associated with SCT (25%). Thirteen of the 20 deaths due to medical causes occurred during exertion; cardiac (6, 46%) SCT associated (5, 39%), and heat stroke unrelated to SCT (2, 15%). All deaths associated with SCT occurred in black Division I football athletes. The risk of exertional death in Division I football players with SCT was 1:827 which was 37 times higher than in athletes without SCT. The cost per case identified varied widely depending on the population screened and the price of the screening test. Conclusions Exertional death in athletes with SCT occurs at a higher rate than previously appreciated. More research is needed to (1) understand the pathophysiology of death in SCT-positive athletes and (2) determine whether screening high-risk populations reduces mortality. PMID: 22442191 [PubMed - in process]
Related citations
4. Pediatr Blood Cancer. 2012 Apr;58(4):611-5.
Bone marrow transplant options and preferences in a sickle cell anemia cohort on chronic transfusions. Hansbury EN,Schultz WH, Ware RE, Aygun B.
Source
Baylor College of Medicine, Houston, Texas, USA.
Comment in
Pediatr Blood Cancer. 2012 Apr;58(4):485-6.
Abstract
BACKGROUND:
Bone marrow transplantation (BMT) using human leukocyte antigen (HLA)-matched sibling donors can be curative for children with sickle cell anemia (SCA). However, minimal data exist regarding availability of HLA-identical matched siblings for transplant-eligible children, and family interest in pursuing transplantation.
METHODS:
We retrospectively analyzed a pediatric SCA cohort receiving chronic transfusions between July 2004 and January 2011. Data were analyzed regarding the number of full siblings and half-siblings, availability, and family interest in HLA testing the full siblings, and interest in proceeding with HLAmatched transplantation.
RESULTS:
Among 113 patients, 46 (41%) had at least 1 full sibling and 40 (35%) had an unaffected full sibling who could serve as a BMT donor. The families of 23 of these patients (58%) agreed to HLA-type sibling, 8 of whom (35%) were matched. Transfusion indications for families agreeing to HLA typing included stroke (46%) abnormal TCD (29%), acute chest syndrome (21%), and other CNS reasons (4%). Common reasons to decline HLA typing or transplantation included fear of the process, toxicities of the procedure, and comfort with current quality of life on transfusions. Only 8 of 113 (7%) were eligible for matched BMT, and only 3 (3%) underwent HLA-matched transplantation. Two unmatched children received haploidentical transplantation. CONCLUSIONS:
Most families of children with SCA on chronic transfusions choose to proceed with HLA typing. However, when a matched sibling was identified, most families declined to proceed with matched-sibling transplantation. Discussing BMT as a treatment option, offering HLA typing and identifying barriers may improve acceptance of this treatment modality.
PMID: 22435112 [PubMed - in process]
Related citations
5. Am J Hematol. 2012 Jan 31. doi: 10.1002/ajh.23137. [Epub ahead of print]
Genotypic screening of the main opiate-related polymorphisms in a cohort of 139 sickle cell disease patients. Joly P,Gagnieu MC, Bardel C, Francina A, Pondarre C, Martin C.
Source Unité de Pathologie Moléculaire du Globule Rouge (Centre de Référence des Thalassémies), Laboratoire de Biochimie et de Biologie Moléculaire, Hôpital Edouard Herriot, Hospices Civils and Université Claude Bernard-Lyon 1, Lyon, France; Centre de Recherche et d'Innovation sur le Sport (EA 647), Université de Lyon, Villeurbanne, France. philippe.joly@chu-lyon.fr.
PMID: 22430884 [PubMed - as supplied by publisher
Related citations 6.
Pediatr Blood Cancer. 2012 Mar 15. doi: 10.1002/pbc.24129. [Epub ahead of print]
Ambulatory Care Connections of Medicaid-Insured Children With Sickle Cell Disease.
Bundy DG,Muschelli J, Clemens GD, Strouse JJ, Thompson RE, Casella JF, Miller MR.
Source
Division of Quality and Safety, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Health Policy & Management, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland. dbundy@jhmi.edu. Abstract
BACKGROUND:
Sickle cell disease (SCD) requires coordinated ambulatory care from generalists and hematologists. We examined when children with SCD establish ambulatory care connections, whether these connections are maintained, and how these connections are used before and after hospitalizations. PROCEDURE:
We conducted a retrospective cohort study of Medicaid-insured Maryland children with SCD from 2002 to 2008. For children enrolled from birth, time to first, second, and third generalist and first hematologist visits was plotted. For all children, we analyzed ambulatory visits by age group, by emergency department (ED) and hospital use, and before and after hospitalizations.
RESULTS:
The overall study cohort comprised 851 children; 178 provided data from birth. Ambulatory care connections to generalists were made rapidly; connections to hematologists occurred more slowly, if at all (38% of children had not seen a hematologist by age 2 years). Visits with generalists decreased as patients aged, as did visits with hematologists (54% of children in the 12-17 year age group had no hematology visits in 2 years). Children with higher numbers of ED visits or hospitalizations also had higher numbers of ambulatory visits (generalist and hematologist). Most children had visits with neither generalists nor hematologists in the 30 days before and after hospitalizations.
CONCLUSIONS:
Medicaid-insured children with SCD rapidly connect with generalists after birth; connections to hematologists occur more slowly. The observation that connections to generalists and hematologists diminish with time and are infrequently used around hospitalizations suggests that the ambulatory care of many Medicaid-insured children with SCD may be inadequate. Pediatr Blood Cancer © 2012 Wiley Periodicals, Inc. Copyright © 2012 Wiley Periodicals, Inc.
PMID: 22422739 [PubMed - as supplied by publisher
Related citations
7. J Thromb Haemost. 2012 Mar 15. doi: 10.1111/j.1538-7836.2012.04697.x. [Epub ahead of print]
Pulmonary Embolism in Sickle Cell Disease: A Case-Control Study.
Novelli EM,Huynh C,Gladwin MT, Moore CG, Ragni MV.
Source
Department of Medicine, Division Hematology/Oncology, University of Pittsburgh Hemophilia Center of Western PA, Pittsburgh, PA, USA Vascular Medicine Institute, University of Pittsburgh Division of Pulmonary Medicine, University of Pittsburgh Department of Medicine, Center for Research on Health Care Data Center, Pittsburgh, PA.
Abstract
Introduction: Pulmonary embolism (PE) is a leading cause of mortality in hospitalized patients, yet the prevalence of PE in sickle cell disease (SCD) and its relation to disease severity or intrinsic hypercoagulability are not established. Methods: We estimated inpatient PE incidence and prevalence among SCD and non-SCD populations in Pennsylvania, and compared severity of illness and mortality, using Pennsylvania Health Care Cost Containment Council (PHC4) discharge data, 2001-2006. Risk factors for PE were assessed in a case-control study of discharges from the University of Pittsburgh Medical Archival Records System (MARS). Results: The incidence of inpatient PE was higher in the SCD PA population than in the non-SCD Pennsylvania population, 2001-2006. The PE prevalence among SCD discharges <50 years of age, 0.57%, was similar to that in non-SCD Pennsylvania discharges, 0.60%, and unchanged after adjustment for race. Among SCD discharges, those developing PE were significantly older, with longer length of stay, greater severity of illness, and higher mortality, p<0.001, than SCD without PE. Among PE discharges, SCD had similar severity of illness, p=0.77, and mortality, p=0.39, but underwent fewer computerized tomographic scans, p=0.006, than non-SCD with PE. In the local case-control study, no clinical or laboratory feature was associated with PE. Conclusions: The incidence of PE is higher and chest CT utilization is lower in SCD than non-SCD inpatients, suggesting that PE may be under-diagnosed. © 2012 International Society on Thrombosis and Haemostasis.
© 2012 International Society on Thrombosis and Haemostasis.
PMID: 22417249 [PubMed - as supplied by publisher]
Related citations
8. Spec Care Dentist. 2012 Mar;32(2):55-60. doi: 10.1111/j.1754-4505.2012.00235.x.
Sickle cell disease does not predispose to caries or periodontal disease.
Passos CP,Santos PR,Aguiar MC,Cangussu MC, Toralles MB, da Silva MC, Nascimento RJ, Campos MI. Source
Graduate Program of Interactive Processes of Organs and Systems, Institute of Health Science Scholarship Program of Tutorial Education, School of Dentistry Department of Biomorphology, Institute of Health Science Department of Social Dentistry and Pediatrics, School of Dentistry Department of Pediatrics, School of Medicine Professor Edgar Santos University Hospital Department of Biointeraction, Institute of Health Science-Federal University of Bahia, Salvador, Brazil. Abstract
This study investigated the prevalence of dental caries and periodontal condition in a population with sickle cell disease (SCD), analyzing some associations with disease severity. The Decayed, Missing and Filled Teeth index (DMFT) and Community Periodontal Index (CPI) were recorded for 99 individuals with SCD and 91 matched controls. Socio-demographic status, oral health behaviors, and history of clinical severity of SCD were assessed. Statistical comparisons were performed between the group with SCD and the control group, as well as multivariate logistic regression analyses with DMFT index and CPI as the dependent variables. The mean number of decayed teeth was significantly higher in individuals with HbSS. Older age, female gender, and daily smoking were identified as risk factors for higher DMFT, while older age and absence of daily use of dental floss were risk factors for the development of periodontal disease. In conclusion, risk factors known to cause caries and periodontal disease had more influence on oral health than the direct impact of SCD. © 2012 Special Care Dentistry Association and Wiley Periodicals, Inc. PMID: 22416987 [PubMed - as supplied by publisher]
9. Curr Treat Options Cardiovasc Med. 2012 Mar 6. [Epub ahead of print]
Hemoglobinopathies and Stroke: Strategies for Prevention and Treatment. Ali N,Srey R,Pavlakis S.
Source Pediatric Neurology, Maimonides Infants and Children's Hospital, 977 48th Street, Brooklyn, NY, 11219, USA. Abstract
OPINION STATEMENT: Current treatment options for stroke in sickle cell disease (SCD) and thalassemia are limited. Hypercoagulation occurs in both diseases partly due to activated platelets and red blood cell dysmorphology and dysfunction, resulting in chronic anemia. This overlapping pathophysiology of the nervous system promotes the role of some common treatment modalities for these similar diseases. The current evidence suggests that chronic exchange transfusion and stem cell transplantation/bone marrow transplant (BMT) can be used in both diseases. Exchange transfusion is the mainstay of therapy of acute stroke in SCD whereas blood transfusions and hydroxyurea appear to be the most effective current treatments. However, evidence suggests that exchange transfusion should be initiated in acute ischemic stroke (AIS) and chronic transfusion continued in both diseases after AIS. Exchange transfusion can also be used acutely in AIS with thalassemia as this disorder is also associated with hypervolemia at baseline, occurring secondary to chronic anemia. The ideal length of chronic transfusions for both primary and secondary stroke prevention still needs to be better defined. Stem cell transplant or BMT is the only curative treatment for both diseases. However, timing needs to be further investigated. If transplantation is effective, it may need to be done before the child with SCD expresses disease, such as in infancy. However, in infancy, we cannot predict the severity of the phenotype in SCD with certainty, so an individual decision about transplantation is difficult to make. In thalassemia, transplantation may be effective later because vasculopathy is not the problem as in SCD. Furthermore, cerebrovascular disease occurs later in thalassemia than in SCD. Finally, aspirin is a treatment modality that also warrants further investigation. There are limited studies on the effectiveness of aspirin in SCD and thalassemias. Few studies have demonstrated clinical improvement of stroke in patients with hemoglobinopathies. Given the successful use of aspirin in the treatment and prevention of recurrent cardioembolic events in patients without hemoglobinopathies, diseases with hypercoagulability, such as SCD and thalassemia, may also benefit from the use of aspirin for treatment and prevention. However, the evidence available is based on case and retrospective studies, necessitating future larger and more valid studies to evaluate safety and effectiveness.
PMID: 22392612 [PubMed - as supplied by publisher] Related citations
Sci Transl Med. 2012 Feb 29;4(123):123ra26.
A Biophysical Indicator of Vaso-occlusive Risk inSickleCell Disease. Wood DK,Soriano A,Mahadevan L, Higgins JM, Bhatia SN.
Source Division of Health Sciences and Technology, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.
Abstract
The search for predictive indicators of disease has largely focused on molecular markers. However, biophysical markers, which can integrate multiple pathways, may provide a more global picture of pathophysiology. Sicklecell disease affects millions of people worldwide and has been studied intensely at the molecular, cellular, tissue, and organismal level for a century, but there are still few, if any, markers quantifying the severity of this disease. Because the complications ofsicklecell disease are largely due to vaso-occlusive events, we hypothesized that a physical metric characterizing the vaso-occlusive process could serve as an indicator of disease severity. Here, we use a microfluidic device to characterize the dynamics of "jamming," or vaso-occlusion, in physiologically relevant conditions, by measuring a biophysical parameter that quantifies the rate of change of the resistance to flow after a sudden deoxygenation event. Our studies show that this single biophysical parameter could be used to distinguish patients with poor outcomes from those with good outcomes, unlike existing laboratory tests. This biophysical indicator could therefore be used to guide the timing of clinical interventions, to monitor the progression of the disease, and to measure the efficacy of drugs, transfusion, and novel small molecules in an ex vivo setting.
Am J Hematol. 2012 Mar;87(3):340-6. doi: 10.1002/ajh.22271. Epub 2012 Feb 3.
Framing the research agenda forsickle cell trait: building on the current understanding of clinical events and their potential implications. Goldsmith JC,Bonham VL,Joiner CH,Kato GJ,Noonan AS,Steinberg MH.
Source
Blood Diseases Branch, Division of Blood Diseases and Resources, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20892-7950, USA. goldsmithjc@nhlbi.nih.gov Abstract

Sickle Cell Trait (HbAS), the heterozygous state for thesickle hemoglobin beta globin gene is carried by as many as 100 million individuals including up to 25% of the population in some regions of the world (World Health Organization, Provisional agenda item 4.8, EB117/34 (22 December 2005) or World Health Organization, Provisional agenda item 11.4 (24 April 2006)). Persons with HbAS have some resistance to falciparum malaria infection in early childhood (Piel FB, Patil AP, Howes RE, et al., Nat Commun 2010;1104:1-7 and Aidoo M, Terlouw DJ, Kolczak M, et al., Lancet 2002;359:1311-1312) and as a result individuals with HbAS living in malarial endemic regions of Africa have a survival advantage over individuals with HbAA. Reports from the US emphasize possible health risks for individuals with HbAS including increased incidence of renal failure and malignancy, thromboembolic disorders, splenic infarction as a high altitude complication, and exercise-related sudden death. The National Heart, Lung, and Blood Institute, National Institutes of Health convened a workshop in Bethesda, Maryland on June 3-4, 2010, Framing the Research Agenda forSickle Cell Trait, to review the clinical manifestations of HbAS, discuss the exercise-related sudden death reports in HbAS, and examine the public health, societal, and ethical implications of policies regarding HbAS. The goal of the workshop was to identify potential research questions to address knowledge gaps.
Am J Hematol. 2012 Mar;87(3):333-6. doi: 10.1002/ajh.22265. Epub 2012 Jan 9. Inpatient management of sickle cell pain: a 'snapshot' of current practice.
Miller ST,Kim HY,Weiner D,Wager CG,Gallagher D, Styles L, Dampier CD; Investigators of the Sickle Cell Disease Clinical Research Network (SCDCRN). Collaborators (95)
Source
Division of Hematology/Oncology, State University of New York-Downstate Medical Center/Kings County Hospital Center, Brooklyn, New York 11203, USA. scott.miller@downstate.edu
Abstract
The Sickle Cell Disease Clinical Research Network (SCDCRN) designed the PROACTIVE Feasibility Study (ClinicalTrials.gov NCT00951808) to determine whether elevated serum levels of secretory phospholipase A2 (sPLA2) during hospitalization for pain would permit preemptive therapy of sickle cell acute chest syndrome (ACS) by blood transfusion. While PROACTIVE was not designed to assess pain management and was terminated early due to inadequate patient accrual, collection of clinical data allowed a "snapshot" of current care by expert providers. Nearly half the patients admitted for pain were taking hydroxyurea; hydroxyurea did not affect length of stay. Providers commonly administered parenteral opioid analgesia, usually morphine or hydromorphone, to adults and children, generally by patient-controlled analgesia (PCA). Adult providers were more likely to prescribe hydromorphone and did so at substantially higher morphine equivalent doses than were given to adults receiving morphine; the latter received doses similar to children who received either medication. All subjects treated with PCA received higher daily doses of opioids than those treated by time-contingent dosing. Physicians often restricted intravenous fluids to less than a maintenance rate and underutilized incentive spirometry, which reduces ACS in patients hospitalized for pain. Sickle Cell Conferences
April 12 – Atlanta -Sickle Cell Disease: Equity and Ethics. Emory University The symposium will include a keynote address and panel discussion on bioethics in sickle cell disease. The talks will discuss the racialization of the disease, social determinants, public policy, treatment and care. Confirmed participants includeDr. Carlton Haywood, Jr. from the Johns Hopkins University and Dr. Camara P. Jones from the Centers for Disease Control and Prevention, and Dr. Bruce Mitchell from the School of Medicine. Date: Thursday, April 12th
Location: Psychology Building, Room 290
Time: 4:00-6:00 PM. A reception will follow.
The symposium is co-sponsored by the Program for Science and Society, the Center for Ethics, the Race and Difference Initiative, and the Graduate Institute of Liberal Arts.
For more information contact Melissa Creary atmcreary@emory.edu
April 20, 2012 , Indianapolis, Indiana.Martin Center Announces 2012 Indiana Statewide Sickle Cell Conference Free Community Event -The free one day conference will be held on April 20, 2012 at the Indiana Landmarks Center at 1201 N. Central Avenue, Indianapolis, Indiana. The conference will begin with registration and a continental breakfast at 8:00 A.M. and will conclude at 4:30 P.M.
The conference has been planned with the assistance of multiple health organizations, including the Indiana Hemophilia and Thrombosis Center, Riley Hospital for Children, the Indiana State Department of Health, Indiana University Health Hospital, the North Central Sickle Cell Program at South Bend Memorial Hospital and the Indiana Minority Health Coalition. Martin Center and its partners have designed the 2012 Indiana Statewide Sickle Cell Conference to alert our communities about the continued presence of Sickle Cell Disease, as well as informing the public about the varieties of pain (psychological, emotional, social, economic and spiritual) in addition to the physical pain associated with it. The conference is also intended to inform the community about current treatment protocols for Sickle Cell and to inspire hope for those who have the disease by demonstrating the shared commitment that others have to make life better for them. http://www.themartincenter.org
May 4, 2012 Sickle Cell Disease: Overview and Update New York NY 7:30 AM- 5 PM Sponsored by the Sickle Cell/Thalassemia Program at New York Methodist Hospital for information please call 718-857-5643 or email torib9001@nyp.org
24th May - 25th May 2012Event name: Sickle Cell in Focus 2(SCiF)Venue: King’s College London Guy’s campus, London Programme Director: Professor Swee Lay Thein, King’s College London / King’s College Hospital, UK
Description: Sickle Cell in Focus is an annual, two-day intensive educational conference held to highlight and discuss emerging clinical complications and management of sickle cell disease. The clinical and scientific lectures are aimed at consultants, trainee doctors and other health professionals involved in the care of patients with the disease and academic researchers in this field. It attracts local, national and international guest speakers and delegates. For more information: SCiF is now being organized via the South Thames Sickle Cell and Thalassaemia Network (STSTN). Please visit the websitefor more information – http://www.ststn.co.uk Contact:info@ststn.co.uk orbelle.kelly@kcl.ac.uk
July 5-7, 2012 Venetian / Palazzo Hotel Las Vegas - Association of Nigerian Physicians in the Americas“The 18th Annual ANPA Convention & Scientific Assembly will be held July 5-7, 2012 at the Venetian / Palazzo Hotel in Las Vegas, Nevada. The theme for this year’s assembly will be “Righting the Wrong in Sickle Cell Disease”, and “Information Technology in Medical Practice”. The ANPA Annual Meeting features three full-day meetings, providing participants’ knowledge related to the challenges facing minority health care providers in the provision of clinical and therapeutic services for diseases and conditions related to a variety of medical specialties. The meeting will feature member lecturers providing state of the art technological advances that will impact the practice of medicine. The annual convention is of great value to our membership and other health care professionals by providing them with opportunities to keep abreast of developments in various areas of health care delivery and also offering continuing medical education (CME) credits. For more information please visit www.anpa.org or call 913.402.7102. “
September 25 – 29, 2012 The Sickle Cell Disease Association of America 40th Annual Conference Baltimore MD
The conference will be held September 25 – 29, 2012 at the Baltimore Marriott Waterfront Hotel in Baltimore, MD. We promise that this will be one of the most educational and empowering events to take place within the sickle cell community! http://www.sicklecelldisease.org/index.cfm?page=annual-convention Articles in the Medical Literature
1. Abnormalities in Cardiac Structure and Function in Adults with Sickle Cell Disease are not Associated with Pulmonary Hypertension. Knight-Perry JE, de Las Fuentes L, Waggoner AD, Hoffmann RG, Blinder MA, D VG, Field JJ.
J Am Soc Echocardiogram
.. 2011 Aug 26. [Epub ahead of print]
PMID: 21873028 [PubMed - as supplied by publisher]
Related citations
2. Increased concentrations of IL-18 and uric acid in sickle cell anemia: Contribution of hemolysis, endothelial activation and the inflammasome. Cerqueira BA, Boas WV, Zanette AD, Reis MG, Goncalves MS.
Cytokine
.. 2011 Aug 24. [Epub ahead of print]
PMID: 21871815 [PubMed - as supplied by publisher]
Related citations
3. Cardiovascular autonomic dysfunction in sickle cell anemia. Martins WD, Lopes HF, Consolim-Colombo FM, Gualandro SD, Arteaga-Fern??ndez E, Mady C. Auton Neurosci
.. 2011 Aug 24. [Epub ahead of print] PMID: 21868290 [PubMed - as supplied by publisher] Related citations
4. Lower Airway Nitric Oxide is Increased in Children with Sickle Cell Disease.
Radhakrishnan DK, Bendiak GN, Mateos-Corral D, Al-Saleh S, Bhattacharjee R, Kirby-Allen M, Grasemann H.
J Pediatr
.. 2011 Aug 23. [Epub ahead of print]


PMID: 21868036 [PubMed - as supplied by publisher]
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5. Transition of chronically ill youth to adult health care: experience of youth with hemoglobinopathy.
Bryant R, Young A, Cesario S, Binder B.
J Pediatr Health Care
.. 2011 Sep-Oct;25(5):275-83. Epub 2010 May 1.
PMID: 21867855 [PubMed - in process] Related citations
6. Clinical spectrum of serious bacterial infections among splenectomized patients with hemoglobinopathies in Israel: a 37-year follow-up study. Sakran W, Levin C, Kenes Y, Colodner R, Koren A.
Infection
.. 2011 Aug 25. [Epub ahead of print]
PMID: 21866338 [PubMed - as supplied by publisher]
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7. Prevalence of Hemoglobinopathy Disorders in Adult Patients Sent for Diagnosis of Anemia in Saudi Arabia.
Alsaeed AH.
Genet Test Mol Biomarkers
.. 2011 Aug 23. [Epub ahead of print]
PMID: 21861712 [PubMed - as supplied by publisher]
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8. Increased prevalence of osteonecrosis of the femoral head in children and adolescents with sickle-cell disease.
Mahadeo KM, Oyeku S, Taragin B, Rajpathak SN, Moody K, Santizo R, Catherine Driscoll M.
Am J Hematol
.. 2011 Sep;86(9):806-8. doi: 10.1002/ajh.22103. No abstract available.
PMID: 21850660 [PubMed - in process]
Related citations
9. Sickle cell trait is not independently associated with susceptibility to end-stage renal disease in African Americans.
Hicks PJ, Langefeld CD, Lu L, Bleyer AJ, Divers J, Nachman PH, Derebail VK, Bowden DW, Freedman BI.
Kidney Int
.. 2011 Aug 17. doi: 10.1038/ki.2011.286. [Epub ahead of print]
PMID: 21849968 [PubMed - as supplied by publisher]
Related citations
10. Tapered oral dexamethasone for the acute chest syndrome of sickle cell disease.
Quinn CT, Stuart MJ, Kesler K, Ataga KI, Wang WC, Styles L, Smith-Whitley K, Wun T, Raj A, Hsu LL, Krishnan S, Kuypers FA, Setty Y, Rhee S, Key NS, Buchanan GR; on Behalf of the Investigators of the Comprehensive Sickle Cell Centers.
Br J Haematol
.. 2011 Aug 16. doi: 10.1111/j.1365-2141.2011.08827.x. [Epub ahead of print]
PMID: 21848879 [PubMed - as supplied by publisher]
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11. Quality-of-Care Indicators for Children With Sickle Cell Disease.
Wang CJ, Kavanagh PL, Little AA, Holliman JB, Sprinz PG.
Pediatrics
.. 2011 Aug 15. [Epub ahead of print]
PMID: 21844055 [PubMed - as supplied by publisher]
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12. Molecular blood typing augments serologic testing and allows for enhanced matching of red blood cells for transfusion in patients with sickle cell disease. Wilkinson K, Harris S, Gaur P, Haile A, Armour R, Teramura G, Delaney M.
Transfusion
.. 2011 Aug 9. doi: 10.1111/j.1537-2995.2011.03288.x. [Epub ahead of print]
PMID: 21827505 [PubMed - as supplied by publisher]
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13. When children with sickle-cell disease become adults: Lack of outpatient care leads to increased use of the emergency department.
Hemker BG, Brousseau DC, Yan K, Hoffmann RG, Panepinto JA.
Am J Hematol
.. 2011 Jun 14. doi: 10.1002/ajh.22106. [Epub ahead of print] No abstract available.
PMID: 21815184 [PubMed - as supplied by publisher]
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14. Monitoring toxicity, impact, and adherence of hydroxyurea in children with sickle cell disease.
Brandow AM, Panepinto JA.
Am J Hematol
.. 2011 Sep;86(9):804-6. doi: 10.1002/ajh.22101. Epub 2011 Aug 3. No abstract available.
PMID: 21815183 [PubMed - in process]
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15. Recurrent, severe wheezing is associated with morbidity and mortality in adults with sickle cell disease.
Cohen RT, Madadi A, Blinder MA, Debaun MR, Strunk RC, Field JJ.
Am J Hematol
.. 2011 Sep;86(9):756-61. doi: 10.1002/ajh.22098. Epub 2011 Aug 2.
PMID: 21809369 [PubMed - in process]
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Stroke Deaths Down in African-American Children
A new study shows that the gap in ischemic stroke mortality rates between African-American and white children has narrowed by about two thirds in recent years, researchers report.
They speculate that this reduction may relate to publication of evidence from the Stroke Prevention Trial in Sickle Cell Anemia (STOP) that ultrasonographic screening and blood transfusions in children with sickle cell anemia can prevent strokes.
"The research is implying that by doing ultrasounds and transfusion therapy, we are preventing strokes and decreasing mortality, which is very important; we are making a difference in pediatric stroke," said lead researcher Laura Lehman, MD, clinical fellow in the Cerebrovascular Disorders and Stroke Program, Neurology Department, Children's Hospital, Boston, Massachusetts.
Their findings were presented at the American Stroke Association's International Stroke Conference 2012. http://www.medscape.com/viewarticle/759149 Charles F. Whitten, Pioneering Sickle Cell Doctor, Has Papers Acquired By National Institutes Of Health Library
The National Institutes of Health's National Library of Medicine has acquired the papers of the late Charles F. Whitten, a respected Detroit pediatrician known for his expertise and work related to Sickle Cell Disease.
Whitten, who passed away in 2008 at the age of 86, served as chief of pediatrics at Detroit Receiving Hospital and was the first African-American to head a hospital department in the city. He was also a distinguished professor of pediatrics at Wayne State University.
The doctor played an instrumental role in the formation of the Sickle Cell Disease Association of America and Detroit's Sickle Cell Detection and Information Center. http://www.huffingtonpost.com/2012/02/13/charles-f-whitten-national-institutes-of-health-library_n_1273365.html MEMBERS OF NEW INTERAGENCY PAIN RESEARCH COORDINATING COMMITTEE ANNOUNCED
More than 100 million Americans suffer from migraines, arthritis and other chronic pain conditions with an annual economic toll of nearly $600 billion in medical bills and lost productivity. To help address this problem, Congress directed the U.S. Department of Health and Human Services, through the Affordable Care Act, to create a new Interagency Pain Research Coordinating Committee. Its members, announced today by the National Institutes of Health, include biomedical researchers, representatives from nonprofit public advocacy organizations, and representatives of seven federal government organizations that deal with pain research and patient care.
The committee will work to identify critical gaps in basic and clinical research on the symptoms, causes, and treatment of pain and will recommend federal research programs in these areas. The focus will be to coordinate pain research activities across the federal government with the goals of stimulating pain research collaboration, fully leveraging the government resources dedicated to supporting pain research, and providing an important avenue for public involvement. The committee will explore public-private partnerships to broaden collaborative, cross-cutting research and consider best practices in disseminating information about pain to public and professional audiences.
"Pain is a universal condition, a serious and costly public health issue, and a challenge for family, friends, and health care providers," said Story Landis, Ph.D., director of NIH's National Institute of Neurological Disorders and Stroke (NINDS) and the committee chair. "This committee will play an important role working with federal agencies spearheading pain research. I am pleased that its membership reflects a great depth and wide range of both scientific expertise and effective public advocacy."
The committee appointees include leading federal officials together with six non-federal scientists, physicians, and other health professionals, as well as six members of the general public who are representatives of leading research, advocacy and service organizations. After tracking the work of several government agencies that conduct and support pain research, the committee will develop a report on scientific advances in the diagnosis, prevention, and treatment of chronic and acute pain.
Nigeria’s first stem cell transplant
Some months ago, the University of Benin Teaching Hospital (UBTH) successfully pioneered stem cell transplantation surgery in Nigeria. On the continent, this medical feat has previously been carried out only in Egypt and South Africa. The successful, cutting-edge procedure by an 18-man team led by Dr. Nosakhare Bazuaye was conducted in the hospital on a seven-year-old sickle cell anaemia patient, Mathew Ndik.

The institution commenced the project three years ago when it sent the experts to Basel, Switzerland to acquire requisite knowledge for stem cell transplantation procedure. Nigerians can now access the novel medical procedure for N2.5 million as against the N40 million needed for same outside the country.
This development represents great news for sickle cell patients and others that require regenerative medicine for a cure. This new procedure can also offer relief or even cures for many serious diseases, including Alzheimer’s, heart disease, diabetes, leukemia, thalassemia, cancer and multiple myeloma. It could also help patients recover from spinal cord injuries and strokes. UBTH’s strict adherence to procedure in this connection is worth acknowledging. The institution officially unveiled the successful breakthrough a few weeks ago, only after the patient crossed the 100-day mark traditionally observed before a hospital could be certified by WHO as having successfully carried out a stem cell transplant. http://allafrica.com/stories/201202071230.html
Say It Loud! The Sickle Cell Association of New Jersey (SCANJ) Public Service Announcement Contest 2012: Goal: to increase understanding of Sickle Cell Disease (SCD) and programs and services for individuals with SCD, primarily among youth ages 13-25 years via a competitive and non-competitive PSA video awareness campaign.
For all the information see http://sayitloudscanjcontest.eventbrite.com/
New Online Reference Book Resource
A classic educational resource on sickle cell, which has been out of print for several years, has recently been made available again as an open education resource. The resource is the late Frank B Livingstone’s 1985 book Frequencies of Hemoglobin Variants. With the kind permission of Frank’s daughter Amy Livingstone, the book has been scanned and made available on-line as an open education resource as part of an open education resources project led by Dr Vivien Rolfe at De Montfort University in the UK. Availableas a PDF at: http://www.sicklecellanaemia.org/teaching-resources/resources/scooter82/scooter82.html
The resource is free to use and/or to create educational derivatives from it, subject to the conditions described below Please do let the project lead, Dr Vivien Rolfe vrolfe@dmu.ac.uk , know if you make use of it and if so how. .
Online Newsletters
Sickle Cell Society based in London, England latest e-news letter is:
http://issuu.com/communityeventsuk/docs/sickle_cell_societywinter_final?mode=window&backgroundColor=%23222222
AFRICAN SC NEWS & WORLD REPORT at www.scdjournal.com/news-special
1. Obtain Free Special Edition of SICKLE CELL NEWS at www.scdjournal.com/free.html
2. Obtain our digital editions, self-help books, memoirs, etc at http://www.scdjournal.com/scdreader.html
2. Let's give a Talk on sickle cell at your educational/religious institution. register here
New Hemoglobinopathy Degree Program at University College London (UCL)
The Haemoglobinopathy MSc programme at UCL is the first and only online master’s degree providing a comprehensive holistic training in thalassaemia and sickle cell disease.
Who should do the programme:This is for all doctors in the field of general medicine, pediatrics, genetics, primary care who wish to specialise in areas related to Haemoglobinopathy. For further information, please visit our website: http://www.mschaemoglobinopathy.co.uk/ or Email: MSc_Haemoglobinopathy@ucl.ac.uk Web Resource
DNA Learning Center with excellent video animations http://www.dnalc.org/resources/3d/17-sickle-cell.html
Video Resources
CDC Webinar 10/27: The Use of Hydroxyurea for Sickle Cell Disease by Dr. Nancy Green, Columbia University Medical Center in Windows Media Player at mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDCHydrea.wmv
Schedule of Free CDC 2012 Webinars
4/26: Sickle Cell – Adult Providers Network Dr. Kathryn Hassell, University of Colorado School of Medicine
5/24: Sickle Cell Disease and Emergency Department Use Dr. Paula Tanabe, Duke University School of Nursing
6/28: Sickle Cell Trait – What Every CBO Needs to Know Dr. Lanetta Jordan, Memorial Regional Hospital
7/26: Improved Survival of Children and Adolescents with Sickle Cell Disease Dr. Charles Quinn, Cincinnati Children's Hospital Medical Center
8/23: Translating Research to Policy Dr. Shawn Bediako, University of Maryland, Baltimore County
9/27: Improving Quality of Care for Sickle Cell Pediatrics in the Emergency Department Dr. James Moses, Boston Medical Center
10/25: Strategies from the Field – Data Collection and Harmonization CDC’s Division of Blood Disorders and RuSH Project States
November/December: --- No Webinars---
See all the previous CDC Sickle Cell Webinars and instructions to view or listen to future events see: http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-health
John Hopkins - Urban Health Radio Program (UHRP)
"Breaking It Down: Our Health Our Way" Features Sickle Cell talks in February
WOLB 1010 AM Thursdays from 11 a.m. - 12 p.m. Listen live on the web at http://www.hopkinsmedicine.org/diversity_cultural_competence/urban_health_radio_program/
Free ASH webinars http://hematology.org/Meetings/Webinars/6832.aspx
Pain in Sickle cell disease and Sickle Cell Hydroxyurea Stroke, Renal Disease, and Treatment with Hydroxyurea in Adults with Sickle Cell Disease
Articles for February
1.
Feasibility of Web-based Technology to Assess Adherence to Clinic Appointments in Youth With Sickle Cell Disease. Modi AC, Crosby LE, Hines J, Drotar D, Mitchell MJ.
J Pediatr Hematol Oncol. 2012 Jan 23. [Epub ahead of print]
PMID: 22278205 [PubMed - as supplied by publisher]
Related citations
2. Exchange Transfusion Therapy and Its Effects on Real-time Microcirculation in Pediatric Sickle Cell Anemia Patients: An Intravital Microscopy Study.
Cheung AT, Miller JW, Miguelino MG, To WJ, Li J, Lin X, Chen PC, Samarron SL, Wun T, Zwerdling T, Green R.
J Pediatr Hematol Oncol. 2012 Jan 23. [Epub ahead of print]
PMID: 22278200 [PubMed - as supplied by publisher]
Related citations
3. Local incentive spirometry improves peak expiratory flow rate in teenage sickle cell anaemia patients: a randomized pilot trial.
Adeniyi A, Saminu K.
Afr Health Sci. 2011 Sep;11(3):303-8.
PMID: 22275916 [PubMed - in process]
Related citations
4.
Molecular Link between Intravascular Hemolysis and Vascular Occlusion in Sickle Cell Disease. Zhou Z, Yee DL, Guchhait P. Curr Vasc Pharmacol. 2012 Jan 20. [Epub ahead of print] PMID: 22272904 [PubMed - as supplied by publisher] Related citations
5. Prevalence of Enuresis and Daytime Urinary Incontinence in Children and Adolescents With Sickle Cell Disease. Portocarrero ML, Portocarrero ML, Sobral MM, Lyra I, Lordêlo P, Barroso U Jr. J Urol. 2012 Jan 18. [Epub ahead of print] PMID: 22264459 [PubMed - as supplied by publisher] Related citations

6. Preoperative blood transfusions for sickle cell disease. Hirst C, Williamson L. Cochrane Database Syst Rev. 2012 Jan 18;1:CD003149. PMID: 22258951 [PubMed - in process] Related citations

7. Association of coagulation activation with clinical complications in sickle cell disease. Ataga KI, Brittain JE, Desai P, May R, Jones S, Delaney J, Strayhorn D, Hinderliter A, Key NS. PLoS One. 2012;7(1):e29786. Epub 2012 Jan 11. PMID: 22253781 [PubMed - in process] Free PMC Article Related citations

8.
Risk factors for alloimmunization in patients with sickle cell anemia. Pinto PC, Braga JA, Santos AM. Rev Assoc Med Bras. 2011 Dec;57(6):668-673. English, Portuguese. PMID: 22249547 [PubMed - as supplied by publisher] Free Article Related citations

9. Upper Airway Lymphoid Tissue Size in Children with Sickle Cell Disease. Strauss T, Sin S, Marcus CL, Mason TB, McDonough JM, Allen JL, Caboot JB, Bowdre CY, Jawad AF, Smith-Whitley K, Ohene-Frempong K, Pack AI, Arens R. Chest. 2012 Jan 12. [Epub ahead of print] PMID: 22241762 [PubMed - as supplied by publisher] Related citations

10. Moderate endurance exercise is not a risk for rhabdomyolysis or renal failure in sickle cell trait carriers. Messonnier L, Samb A, Tripette J, Gogh BD, Loko G, Sall ND, Féasson L, Hue O, Lamothe S, Bogui P, Connes P. Clin Hemorheol Microcirc. 2012 Jan 3. [Epub ahead of print] PMID: 22240384 [PubMed - as supplied by publisher] Related citations

11. Chronic transfusion practices for prevention of primary stroke in children with sickle cell anemia and abnormal TCD velocities. Aygun B, Wruck LM, Schultz WH, Mueller BU, Brown C, Luchtman-Jones L, Jackson S, Iyer R, Rogers ZR, Sarnaik S, Thompson AA, Gauger C, Helms RW, Ware RE; for the TCD With Transfusions Changing to Hydroxyurea (TWiTCH) Trial Investigators. Am J Hematol. 2011 Dec 29. doi: 10.1002/ajh.23105. [Epub ahead of print] No abstract available. PMID: 22231377 [PubMed - as supplied by publisher] Related citations

12. Inpatient management of sickle cell pain: A 'snapshot' of current practice. Miller ST, Kim HY, Weiner D, Wager CG, Gallagher D, Styles L, Dampier CD; for the Investigators of the Sickle Cell Disease Clinical Research Network (SCDCRN). Am J Hematol. 2011 Dec 17. doi: 10.1002/ajh.22265. [Epub ahead of print] No abstract available. PMID: 22231150 [PubMed - as supplied by publisher] Related citations

13. Pneumococcal Bacteremia in a Vaccinated Pediatric Sickle Cell Disease Population. Ellison AM, Ota KV, McGowan KL, Smith-Whitley K. Pediatr Infect Dis J. 2012 Jan 5. [Epub ahead of print] PMID: 22228232 [PubMed - as supplied by publisher] Related citations

14. Prospects for primary stroke prevention in children with sickle cell anaemia. Jordan LC, Casella JF, Debaun MR.
Br J Haematol. 2012 Jan 9. doi: 10.1111/j.1365-2141.2011.09005.x. [Epub ahead of print] PMID: 22224940 [PubMed - as supplied by publisher]
Related citations
Sickle Cell News for January 2012
American Society of Hematology Statement on Screening for Sickle Cell Trait and Athletic Participation January26,2012 http://www.hematology.org/advocacy/policy-st
atements/7704.aspx
Background The American Society of Hematology (ASH) represents approximately 16,000 physicians, scientists, and medical trainees committed to the study and treatment of blood and blood-related diseases. ASH members include clinicians who specialize in treating children and adults with sickle cell disease (SCD) and researchers who investigate the causes and potential treatments of SCD manifestations.
Sickle cell disease is an inherited blood disorder that affects 80-100,000 Americans, mostly but not exclusively of African ancestry. SCD causes production of abnormal hemoglobin, resulting in severe anemia, pain, other devastating disabilities, and, in some cases, premature death. SCD requires the inheritance of two defective globin genes. Eight to 10 percent of African Americans have sickle cell trait. Individuals with sickle cell trait do not have SCD, but are carriers of one defective gene associated with SCD. The majority of their hemoglobin is normal. Millions of Americans and hundreds of millions of individuals worldwide with the sickle cell trait enjoy normal life spans without serious health consequences. Rarely, clinical issues such as exertional rhabdomyolysis (the rapid breakdown of skeletal muscle due to injury to muscle tissue) have been reported in individuals with sickle cell trait. These incidents have generally occurred under extreme conditions such as severe dehydration and high intensity physical activity.
In April 2010, the National Collegiate Athletic Association (NCAA) adopted a policy requiring Division I institutions to perform sickle cell trait testing for all incoming student athletes. This requirement arose from a lawsuit following the death during preseason training of a college football player, who was subsequently found to have sickle cell trait. The policy includes an opt-out provision for students who can provide results from a prior test and for those who are willing to sign a waiver of liability against the university and the NCAA. There have been no well-controlled, hypothesis-driven prospective studies on sickle cell trait and exertional collapse. Most cases reported to date are autopsy descriptions or case reports in which other potential contributors are not fully investigated. The extremely small number of deaths in a highly prevalent carrier state implies that other genetic or environmental factors play a role. Rhabdomyolysis and exertional collapse also occur in individuals without sickle cell trait.
Universal preventive measures implemented by the U.S. Army to mitigate risk of exertion-related heat illness for all soldiers include heat acclimatization, monitoring work-rest cycles, guidelines for nutrition and hydration, and maintaining staff preparedness for early and rapid detection and treatment of heat illnesses. Using these universal guidelines, the death rate has been significantly lowered for all individuals undergoing training, including those with sickle cell trait. Similarly, governmental authorities in Brazil (which has similar sickle cell carrier rates as the U.S.) have promulgated guidelines to avoid heat-related injuries and see no need for athletes or military personnel to be screened for sickle cell trait.
ASH Policy
ASH does not support testing or disclosure of sickle cell trait status as a prerequisite for participation in athletic activities. ASH believes that current scientific evidence does not justify this requirement. It is also not consistent with good medical practice or established principles of public health ethics. Screening for sickle cell trait should be voluntary and should take place in a setting that ensures privacy and is performed by a knowledgeable provider who is able to offer comprehensive counseling.
ASH recommends the implementation of universal interventions to reduce exertion-related injuries and deaths, since this approach can be effective for all athletes irrespective of their sickle cell status. Universal interventions are used successfully by organizations like the U.S. Army and the Brazilian military. Until the NCAA requires universal interventions, student athletes remain at risk for suffering from significant heat stress/exertion-related injury or death. Participation in athletics can be made safer with these measures, thereby rendering screening for and disclosure of sickle cell trait status unnecessary. ASH believes that the NCAA Division I policy, as currently written and implemented, has the potential to harm the student athlete and the larger community of individuals with sickle cell trait. The NCAA policy attributes risk imprecisely, obscures consideration of other relevant risk factors, fails to incorporate appropriate counseling, and could lead to stigmatization and racial discrimination.
ASH strongly supports increased biomedical and population-based research on sickle cell trait as it relates to exertion-related illness, as well as other clinical conditions. New knowledge derived from research should benefit individuals with sickle cell trait and help inform public policy. Additional Material
-Read the ASH press release about the Society's Policy Statement on Screening for Sickle Cell Trait and Athletic Participation -Access a list of Frequently Asked Questions about sickle cell trait for medical experts and patients The American Society of Hematology is the world’s largest professional society concerned with the causes and treatment of blood disorders. Its mission is to further the understanding, diagnosis, treatment, and prevention of disorders affecting blood, bone marrow, and the immunologic, hemostatic, and vascular systems by promoting research, clinical care, education, training, and advocacy in hematology. The official journal of ASH is Blood, the most cited peer-reviewed publication in the field, which is available weekly in print and online.
Sickle Cell Patient in New Movie- Joyful Noise
Williamstown, N.J. native Dexter Darden has a memorable supporting turn as Queen Latifah’s son Walter in the enjoyable new film Joyful Noise. The 20-year-old musician/actor holds his own on screen against both the Oscar-nominated actress and legendary country singer Dolly Parton. Darden, who grew up singing in church and at Victory Christian School, chatted with City Paper about getting his start from Paul Newman, Dolly Parton’s fried chicken and his favorite one-hit wonder. http://www.citypaper.net/blogs/criticalmass/QA-Joyful-Noise-star-and-New-Jersey-native-Dexter-Darden.html Dexter Darden knows all about perseverance. Darden was diagnosed with Sickle Cell Anemia as a child, but even at the age of 8, his talent shined through at the Paul Newman’s Hole in the Wall Gang Camp for children with blood diseases and cancer. Newman recognized his talents so Darden found himself performing at star-studded galas (with the likes of Julia Roberts, Matt Damon and Morgan Freeman) to raise money for the camp and the cause, and dancing, modeling and acting roles followed. Darden graduated from Victory Christian High School in Williamstown.
Favorite Jersey shore spot: “I love Ocean City because my family always went down there. I am a HUGEEEEE Polish water ice fan, so every time I go down there, I have to get some.”
On the movie’s message: “The whole movie, in general, kind of applies to my life. The Ovations don’t let anything stop them. With having Sickle Cell Anemia, I always kept fighting and dreaming about making it.” http://site.suburbanfamilymag.com/articles/?articleid=239
High blood pressure, anemia put sickle cell kids at risk for strokes
Sickle Cell News from Allan Platt
August 2013
> James Eckman MD, Director of the 24 hour Georgia Comprehensive Sickle Cell Center to Retire – Symposium in his honor on November 16, 2013at Emory University in Atlanta Georgia
>>
>> Prior to 1984, patients presenting with sickle cell pain crisis were seen in Atlanta area emergency rooms, placed low on triage lists, evaluation procedures were erratic and continuity of care usually absent.
>>
> Dr. James Eckman arrived in Atlanta from the University of Minnesota Medical School to establish a sickle cell program at Grady Memorial Hospital and Emory University School of Medicine. With very little resources, Dr. Eckman obtained grant funding to support the salaries of a genetics nurse, a social worker and a clinical nurse specialist in psychiatry as the beginning of a multidisciplinary team. Dr. Eckman, with an intense lobbying effort by the Sickle Cell Patient/Parent Group, and hospital administration, convinced members of the Georgia General Assembly of the need for a specialized clinic in the state of Georgia. In 1984 the Georgia General Assembly provided the original state grant of $550,000 to Grady Memorial Hospital to fund the world’s first 24-hour comprehensive acute care, sickle cell center.
>
> Having established the clinic on this foundation, during the past 27 years, under the leadership of Dr. Eckman, the center has cared for more than 4,000 patients, expanded its scope of services, and become a medical home model in the care of sickle cell patients. This has occurred through the development of the Problem Oriented Clinical Guidelines for Sickle Syndromes, authored by Dr. Eckman, first published with a Maternal and Child Health grant and distributed for free world-wide in 1991. These guidelines are continually updated and are available on the World Wide Web for all providers to access at the Sickle Cell Information Center web site at http://www.SCInfo.org.
>
> The clinical success of the center, led by Dr. Eckman, with a dedicated staff of hematologists, physician assistants, nurse practitioners, nurses, clinic assistants, social workers and clinical nurse specialists in psychiatry, allowed the staff to apply for Federal research funding. In 1993, the National Institutes of Health awarded Dr. Eckman and Emory University $7 million over five years in research funding for projects to discover new treatments and prevention of complications. Emory is now the leading center out of twenty-five national centers, providing bone marrow transplants to cure sickle cell disease in the United States. Emory provided the first unrelated cord blood stem cell transplant. There are new treatments, such as fish oil or N3 fatty acids that prevent pain events with little or no side effects, new psychosocial interventions, new educational materials on computer-based CD-ROM and Internet technology, new understanding of the pathology of pain events and kidney damage that will lead to new treatments.
>
> > > Dr. Eckman has championed newborn screening for sickle cell in many states nationally and internationally. Through his public health efforts, the infant mortality related to sickle cell disease decreased in Georgia. This has saved the lives of many sickle cell children who would have died from pneumococcal sepsis if timely preventive care with oral penicillin prophylaxis was not started. It was through his efforts that Georgia instituted universal mandatory sickle cell screening for newborns in October of 1998.
>
> As a Professor of Medicine and Adjunct Professor of Pediatrics, Dr. Eckman teaches medical students, residents, and fellows the Art and science of patient care. He spends countless hours preparing stimulating lectures with practical handouts and visually pleasing slides. He teaches at the bedside as a role model for housestaff, showing them how to deliver compassionate and expert care. With all of his duties and responsibilities, he is available to comfort a patient with a reassuring word or answer a family’s question. He has published extensively on sickle cell disease management, new treatments, newborn screening, pain assessment and pain treatment. He is co-author of the bestselling lay sickle cell education book Hope and Destiny, The Patient and Parent’s Guide to Sickle Cell Disease and Sickle Cell Trait (Hilton Publishing 2011)
>
> Dr. Eckman has been committed to attending to the psychosocial needs of the patients and their families. To this end, he has supported the provision of mental health services to individuals across their life span with sickle cell disease. These services have included psychology services from psychology interns, postdoctoral fellows, and faculty. Psychology trainees and faculty frequently comment on the value Dr. Eckman places on a biopsychosocial approach to care and the ways in which this enhances the quality of life of the patients served at the Center. Since most psychology trainees and faculty have received minimal, if any, training in sickle cell disease, Dr. Eckman has been invested in educating them about the disease. He offers multiple training opportunities to non-medical professionals through didactics, informal teaching, multimedia educational materials (e.g., CD-ROM, videos, Web based and internet information), and the coordination of conferences. In his teaching, he is very respectful of the knowledge base and training of those he is educating, shares his extensive knowledge base openly and effectively, and is always approachable. He clearly loves to teach and views educating others as a way to ultimately enhance the quality of the care offered to the patients. In addition to teaching other professionals, the families at the Center have tremendous admiration and respect for what he has taught them.
>
> On behalf of the Department of Hematology and Medical Oncology at Emory University School of Medicine, you are cordially invited to join us in celebrating the long anddistinguished career of James R. Eckman, MD at the Sickle Cell Scientific Symposium and Reception on Saturday, November 16, 2013. This educational program will be held on Emory University’s campus and will feature world renowned authorities in sickle cell disease, all of whom are longtime friends and colleagues of Dr. Eckman. If you would like to attend, please feel free to RSVP now as the program plans are developing. Please contact: Chris Terry-Carter at cterryc@emory.edu or Joél Anthony atjantho3@emory.edu. >
> Healthy People 2020 Blood Disorders and Blood Safety Objectives http://www.healthypeople.gov/2020/topicsobjectives2020/overview.aspx?topicid=4 >
> Sickle Cell disease objectives and recommendations are a part of Healthy Perople 2020 >
> New Videos >
> 2013-07-25 - Dr. Coretta Jenerette, International Association of Sickle Cell Nurses and Physician Assistants >
> Nurses’ Impact on the Stigmatization of Individuals with Sickle Cell: Challenges and Recommendations >
> mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDC072513.wmv >
> SAVE THE DATES
>
> Fellow colleagues, you are invited to participate in the“Public Health Webinar Series on Hemoglobinopathies” Hosted by: The Division of Blood Disorders, CDC
> > 4th Thursday of every month from 2:00PM – 3:00PM EST >
> 9/26: NHLBI Sickle Cell Disease Guidelines >
> Dr. Joylene John-Sowah, National Heart Lung and Blood Institute, NIH >
> 10/24: Current Data on Efficacy and Effectiveness of Hydroxyurea in Children with Sickle Cell Disease >
> Dr. Winfred Wang, St. Jude Children’s Research Hospital >
> November/December: --- No W
ebinars--- > > If you have ideas on topics for future webinars, or have any questions or comments about this series please submit them to Shae Popespope@cdc.gov . >
> The purpose of this webinar series is to offer a hemoglobinopathies learning collaborative platform for providers, consumers, educators, and scientists. CDC Web based Sickle Cell Resources
CDC’s YouTube Link: http://www.youtube.com/watch?v=gnrvYsZWR1c&list=UUiMg06DjcUk5FRiM3g5sqoQ&index=2&feature=plpp_video CDC Video Archive (http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-health CDC Sickle Cell Disease Webpage:http://wwwdev.cdc.gov/NCBDDD/sicklecell/video.html Articles in the Medical Literature for June
1. PLoS One. 2013 Aug 14;8(8):e72077. doi: 10.1371/journal.pone.0072077. eCollection 2013. Hydroxyurea use and hospitalization trends in a comprehensive pediatric sickle cell program. Nottage KA, Hankins JS, Smeltzer M, Mzayek F,Wang WC, Aygun B, Gurney JG. Department of Hematology, St. Jude Children's Research Hospital, Memphis, Tennessee, United States of America. Abstract
BACKGROUND:
A decline in hospitalizations and pain episodes among those with sickle cell disease (SCD) who take hydroxyurea (HU) has been shown when compared to pre-HU patterns but paradoxically, when compared to those who have never been treated, HU recipients often have more frequent hospitalizations. This analysis evaluates the impact of increasing usage of HU on trends in hospitalizations and blood transfusions within a large SCD treatment program. METHODS:
Eligibility was restricted to patients with Hb SS or Hb Sβ(0)-thalassemia who were 2-18 years old between 2006-2010 and received care at St. Jude Children's Research Hospital (N = 508). Hospitalizations and blood transfusions were calculated for each of the years under study for those exposed and never exposed to HU. Differences in number of hospitalizations before and after HU initiation were compared. RESULTS:
The proportion of patients receiving HU increased by 4% per year on average. In the HU exposed group, a modest decline in mean per-patient hospitalizations and per-patient hospital days occurred, while those never exposed to HU trended toward a slight increase over time. Rates of blood transfusions declined among those on HU but not in patients never exposed to HU. Patients on HU had a median of one fewer hospital admission in the year after initiation of HU, compared to the year prior. Two deaths occurred in the patient population, both of whom were not exposed to HU. CONCLUSIONS:
Increasing usage of HU was concurrent with decreased hospitalization rates and blood transfusions. Our results support the utility of HU on decreasing hospitalizations and transfusions for patients with SCD outside of the clinical trial setting. PMCID: PMC3743768 Free PMC Article
PMID: 23967276 [PubMed - in process]
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2. J Blood Med. 2013 Aug 5;4:101-10. doi: 10.2147/JBM.S35478. eCollection 2013.
Deferasirox: appraisal of safety and efficacy in long-term therapy.
Chaudhary P, Pullarkat V.
Jane Ann Nohl Division of Hematology, University of Southern California Keck School of Medicine, Los Angeles, CA, USA. Abstract
Deferasirox is a once-daily, oral iron chelator that is widely used in the management of patients with transfusional hemosiderosis. Several Phase II trials along with their respective extension studies as well as a Phase III trial have established the efficacy and safety of this novel agent in transfusion-dependent patients with β-thalassemia, sickle-cell disease and bone marrow-failure syndromes, including myelodysplastic syndrome and aplastic anemia. Data from various clinical trials show that a deferasirox dose of 20 mg/kg/day stabilizes serum ferritin levels and liver iron concentration, while a dose of 30-40 mg/kg/day reduces these parameters and achieves negative iron balance in red cell transfusion-dependent patients with iron overload. Across various pivotal clinical trials, deferasirox was well tolerated, with the most common adverse events being gastrointestinal disturbances, skin rash, nonprogressive increases in serum creatinine, and elevations in liver enzyme levels. Longer-term extension studies have also confirmed the efficacy and safety of deferasirox. However, it is essential that patients on deferasirox therapy are monitored regularly to ensure timely management for any adverse events that may occur with long-term therapy.
PMCID: PMC3743529 Free PMC Article PMID: 23966805 [PubMed]
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3. Popul Health Manag. 2013 Aug 21. [Epub ahead of print] Characteristics of Acute Care Utilization of a Delaware Adult Sickle Cell Disease Patient Population. Anderson N, Bellot J, Senu-Oke O, Ballas SK.
1 Jefferson School of Nursing , Philadelphia, Pennsylvania. Abstract
Abstract Sickle cell disease (SCD) is an inherited blood disorder that is chronic in nature and manifests itself through many facets of the patient's life. Comprehensive specialty centers have the potential to reduce health care costs and improve the quality of care for patients who have chronic medical conditions such as heart failure and SCD. The purpose of this practice inquiry was to analyze de-identified data for acute care episodes involving SCD in order to create a detailed picture of acute care utilization for adult patients in Delaware with SCD from 2007 to 2009. Gaining a better understanding of acute care utilization for adults with SCD may provide evidence to improve access to high-quality health care services for this vulnerable patient population in the state of Delaware. Population Health Management 20xx;xx:xx-xx. PMID: 23965046 [PubMed - as supplied by publisher] Related citations 4.
Am J Hematol. 2013 Aug 20. doi: 10.1002/ajh.23575. [Epub ahead of print]
Neuropathy, neuropathic pain and sickle cell disease. Ballas SK, Darbari DS. Cardeza Foundation, Department of Medicine, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA. PMID: 23963922 [PubMed - as supplied by publisher] Related citations 5.
Am J Hematol. 2013 Aug 20. doi: 10.1002/ajh.23571. [Epub ahead of print]
Vasculopathy, inflammation and blood flow in leg ulcers of patients with sickle cell anemia. Minniti CP, Delaney KM, Gorbach AM, Xu D, Lee CC, Malik N, Koroulakis A, Antalek M, Maivelett J,Peters-Lawrence M, M Novelli E, Lanzkron SM,Axelrod KC, Kato GJ. Hematology Branch, NHLBI, National Institutes of Health, Bethesda, MD, USA.
Abstract Chronic leg ulcers are frequent and debilitating complications of sickle cell anemia. Inadequate blood supply has been postulated to be an important factor in their occurrence and delayed healing. Little is known about their microcirculatory and histopathological changes. We evaluated the microcirculation of lower extremity ulcers with laser speckle contrast imaging and infrared thermography, and obtained clinical and laboratory characteristics in 18 adults with sickle cell anemia and chronic leg ulcers. Skin biopsies were obtained in four subjects. Subjects had markers of severe disease, anemia, and high degree of hemolysis, inflammation and thrombophilia. Higher blood flow was present in the ulcer bed, lesser in the immediate periwound area, compared to an unaffected control skin area. Microscopic examination showed evidence of venostasis, inflammation, and vasculopathy. Blood vessels were increased in number, had activated endothelium and evidence of thrombosis/recanalization. High blood flow may be due to chronic inflammation, cutaneous vasodilatation, venostasis, and in situ thrombosis. These changes in skin microcirculation are similar to chronic venous ulcers in the non-SCD population, thus suggesting that leg ulcers may be another end-organ complication with endothelial dysfunction that appears in patients with SCD at a younger age and with higher frequency than in the general population. Copyright © 2013 Wiley Periodicals, Inc., A Wiley Company.
PMID: 23963836 [PubMed - as supplied by publisher] Related citations
6.
Blood. 2013 Aug 20. [Epub ahead of print] Bone marrow transplantation for thalassemia from alternative related donors: improved outcomes with a new approach. Gaziev J, Marziali M, Isgrò A, Sodani P, Paciaroni K, Gallucci C, Andreani M, Testi M, De Angelis G,Alfieri C, Cardarelli L, Ribersani M, Armiento D,Lucarelli G. International Center for Transplantation in Thalassemia and Sickle Cell Anemia, Mediterranean Institute of Hematology, Policlinico Tor Vergata, Rome, Italy. Abstract
Bone marrow transplantation performance can be limited by a lack of ideal donors, and the role of alternative donor hematopoietic cell transplantation in thalassemia is not well established. Here we used a new treatment protocol (Pc 26.1) in 16 thalassemia patients to perform BMT using phenotypically HLA-identical or one-antigen mismatched relatives (related donors-RDs). We compared these results with HLA matched sibling (matched sibling donors-MSDs) BMT in 66 patients. The entire RD group and 88% of MSD group had sustained engraftment. Rejection incidence was 0% in the RD and 12% (95% CI, 6-21%) in MSD groups (P = 0.15), with respective thalassemia-free survival (TFS) probabilities of 94% (95% CI, 63-99%) and 82% (95% CI, 70-89%) (P = 0.24). Transplant-related mortality was 6% (95% CI, 1-26%) in the RD group and 8% (95% CI, 3-16%) in the MSD group (P = 0.83). The intensified new protocol was not associated with increased nonhematological toxicity. The present data show that the Pc 26.1 preparative regimen allows thalassemia patients to safely undergo BMT from related donors who are not HLA-matched siblings, with transplant outcomes similar to patients of MSD grafts. PMID: 23963044 [PubMed - as supplied by publisher] Related citations
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7. PLoS One. 2013 Aug 7;8(8):e70794. doi: 10.1371/journal.pone.0070794. eCollection 2013. Increased Reticulocytosis during Infancy Is Associated with Increased Hospitalizations in Sickle Cell Anemia Patients during the First Three Years of Life. Meier ER, Byrnes C, Lee YT, Wright EC,Schechter AN, Luban NL, Miller JL. Molecular Medicine Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, United States of America ; Center for Cancer and Blood Disorders, Children's National Medical Center, Washington, District of Columbia, United States of America ; Department of Pediatrics, The George Washington University Medical Center, Washington, District of Columbia, United States of America. Abstract
OBJECTIVE: Among older children with sickle cell anemia, leukocyte counts, hemoglobin, and reticulocytosis have previously been suggested as disease severity markers. Here we explored whether these blood parameters may be useful to predict early childhood disease severity when tested in early infancy, defined as postnatal ages 60-180 days.
STUDY DESIGN: Data from fifty-nine subjects who were followed at Children's National Medical Center's Sickle Cell Program for at least three years was retrospectively analyzed. Comparisons were made between white blood cell counts, hemoglobin and reticulocyte levels measured at ages 60-180 days and the clinical course of sickle cell anemia during infancy and childhood.

RESULTS: A majority of subjects had demonstrable anemia with increased reticulocytosis. Only increased absolute reticulocyte levels during early infancy were associated with a significant increase in hospitalization during the first three years of life. Higher absolute reticulocyte counts were also associated with a markedly shorter time to first hospitalizations and a four-fold higher cumulative frequency of clinical manifestations over the first three years of life. No significant increase in white blood cell counts was identified among the infant subjects. CONCLUSIONS:

These data suggest that during early infancy, increased reticulocytosis among asymptomatic SCA subjects is associated with increased severity of disease in childhood.
PMCID: PMC3737358 Free PMC Article PMID: 23951011 [PubMed - in process]
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v
Am J Hematol. 2013 Aug 14. doi: 10.1002/ajh.23569. [Epub ahead of print] Efficacy and safety of deferasirox compared with deferoxamine in sickle cell disease: 2-year results including pharmacokinetics and concomitant hydroxyurea. Vichinsky E, Sickle Cell News for July 2013
UCLA Stem Cell Gene Therapy For Sickle Cell Disease Advances Toward Clinical Trials https://www.stemcell.ucla.edu./news/gene-therapy-sickle-cell-disease-advances-toward-clinical-trials - See abstract #5 in this newsletter
Researchers at UCLA’s Eli & Edythe Broad Center of Regenerative Medicine & Stem Cell Research have successfully established the foundation for using hematopoietic (blood-producing) stem cells (HSC) from the bone marrow of patients with sickle cell disease (SCD) to treat the disease. The study was led by Dr. Donald Kohn, professor of pediatrics and microbiology, immunology and molecular genetics in the life sciences. Kohn introduced an anti-sickling gene into the HSC to capitalize on the self-renewing potential of stem cells and create a continual source of healthy red blood cells that do not sickle. The breakthrough gene therapy technique for sickle cell disease is scheduled to begin clinical trials by early 2014. The study was published online ahead of press today in Journal of Clinical Investigation.
Gene Therapy Kohn’s gene therapy approach using HSC from patient’s own blood is a revolutionary alternative to current SCD treatments as it creates a self-renewing normal blood cell by inserting a gene that has anti-sickling properties into HSC. This approach also does not rely on the identification of a matched donor, thus avoiding the risk of rejection of donor cells. The anti-sickling HSC will be transplanted back into the patient’s bone marrow and multiplies the corrected cells that make red blood cells without sickling.
“The results demonstrate that our technique of lentiviral transduction is capable of efficient transfer and consistent expression of an effective anti-sickling beta-globin gene in human SCD bone marrow progenitor cells, which improved the physiologic parameters of the resulting red blood cells.” Kohn said. Kohn and colleagues found that in the laboratory the HSC produced new non-sickled blood cells at a rate sufficient for significant clinical improvement for patients. The new blood cells survive longer than sickled cells, which could also improve treatment outcomes. The success of this technique will allow Kohn to begin clinical trials in patients with SCD by early next year.
Current treatments include transplanting patients with donor HSC, which is a potential cure for SCD, but due to the serious risks of rejection, only a small number of patients have undergone this procedure and it is usually restricted to children with severe symptoms. This study was supported in part by a Disease Team I Award from the California Institute for Regenerative Medicine (CIRM), the state’s stem cell research agency created by voter initiative in 2004. Other support came from the UCLA Broad Stem Cell Research Center and Jonsson Comprehensive Cancer Center and the Ruth L. Kirschstein National Research Service Award.
The stem cell center was launched in 2005 with a UCLA commitment of $20 million over five years. A $20 million gift from the Eli and Edythe Broad Foundation in 2007 resulted in the renaming of the center. With more than 200 members, the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research is committed to a multi-disciplinary, integrated collaboration of scientific, academic and medical disciplines for the purpose of understanding adult and human embryonic stem cells. The center supports innovation, excellence and the highest ethical standards focused on stem cell research with the intent of facilitating basic scientific inquiry directed towards future clinical applications to treat disease. The center is a collaboration of the David Geffen School of Medicine, UCLA’s Jonsson Cancer Center, the Henry Samueli School of Engineering and Applied Science and the UCLA College of Letters and Science. To learn more about the center, visit our web site at http://www.stemcell.ucla.edu.
Please join the discussion about Bone Marrow Transplantation in Sickle Cell Disease at the NHLBI Annual Sickle Cell Disease Clinical Research Meetings. Bone Marrow Transplantation in Sickle Cell Disease: A Question of Outcomes. Monday, August 19, 2013; 1:00 - 5:00 PM, Natcher Conference Center, NIH, Bethesda, MD New advances to improve outcomes in SCD and to lower the toxicities of BMT in SCD mandate continued and ongoing comparison of the outcomes of SCD patients undergoing BMT with those not transplanted. This session will explore issues of expanding eligibility criteria for BMT and of developing and standardizing outcomes measures to optimize comparisons of transplanted and non-transplanted patients with SCD. The meeting is open to all and the audience will be encouraged to participate in the discussion. Please register for the meetings (and indicated your choice to attend the session) at: https://www.cvent.com/events/annual-sickle-cell-disease-clinical-research-meetings/registration-b0cafc512d25422096ef3a6a28095937.aspx Registration is free.
Johns Hopkins professor: Sickle cell patient, researcher, and advocatehttp://hub.jhu.edu/2013/07/08/carlton-haywood-sickle-cell Johns Hopkins researcher .understands sickle cell disease in a way few others can—the overwhelming pain that "blossoms into a thunderstorm," the toll it takes on a patient's life, and the paucity of understanding of—or funding for—the condition in the health care community. Haywood, 37, a faculty member at the Johns Hopkins schools of medicine and public health and at the university's Berman Institute of Bioethics, has lived with the rare disease since birth. He was featured in Saturday's edition of The Baltimore Sun:

In Memory of Keone Penn, age 27: Medical trailblazer wanted to be a chef http://www.ajc.com/news/news/local-obituaries/keone-penn-27-medical-trailblazer-wanted-to-be-a-c/nYXxF/

Keone Penn’s middle initial — D — actually stood for Denard, but it could have easily been short for determination. When Penn was 12 years old, he was thrust into the medical spotlight as the first person in the world to undergo a groundbreaking stem cell transplant that ultimately cured him of sickle cell disease. It was a painful process but he was determined to beat the disease and the health complications that would follow, his mother, Leslie Brodnex said. Not long before his 27th birthday, an age his doctors never imagined he’d reach, Penn did something else they said he’d never do: He enrolled in culinary arts school.

Listening to Blood Cells http://www.photonics.com/Article.aspx?AID=54334 Red blood cells struck with laser light generate high-frequency sound waves that could help researchers to differentiate normal blood cells from abnormal ones for the diagnosis of blood-related diseases like sickle cell

Dangerous Braids That Tangle in Brains and Veins By Frank Ferrone | May 30, 2013 at http://blogs.scientificamerican.com/guest-blog/2013/05/30/dangerous-braids-that-tangle-in-brains-and-veins/ New Free Publications from the CDC The CDC has recently updated their Sickle Cell Disease National Resource Directory. The directory is a listing of national agencies, specialty care centers, and community-based organizations that provide services and resources for people affected by sickle cell disease (SCD). The interactive map of the directory is available at http://www.cdc.gov/ncbddd/sicklecell/map/map-nationalresourcedirectory.html. The directory is available as a PDF version at http://www.cdc.gov/ncbddd/sicklecell/freematerials.html

In 2010, in partnership with the National Institutes of Health’s National Heart, Lung, and Blood Institute, the Registry and Surveillance System for Hemoglobinopathies (RuSH) project was launched to collect initial state-specific, information on people with SCD and thalassemia. Factsheets featuring new data on sickle cell disease in the RuSH project states are now available on our website. http://www.cdc.gov/ncbddd/sicklecell/freematerials.html The CDC factsheet “What You Should Know About Sickle Cell Trait” is now available in Spanish. http://www.cdc.gov/ncbddd/spanish/sicklecell/freematerials.html. The English version has also been updated: http://www.cdc.gov/ncbddd/sicklecell/freematerials.html New Videos CDC webinar: from April 2013 - 4/25: Building Behavioral and Social Science Databases for the Hemoglobinopathies: Lessons from the Study of Thalassemia Dr. Robert Yamashita, California State University San Marcos mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDC042513.wmv CDC webinar from June 2013 Beta-globin Haplotype Analysis in Children with Sickle Cell Anemia -Dr. Christopher Bean, National Center on Birth Defects and Developmental Disabilities, CDC mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDC062713.wmv SAVE THE DATES Fellow colleagues, you are invited to participate in the“Public Health Webinar Series on Hemoglobinopathies” Hosted by: The Division of Blood Disorders, CDC 4th Thursday of every month from 2:00PM – 3:00PM EST
8/22: Mental Health and Learning Needs in children with Sickle Cell Disease Dr. Patricia Kavanagh, Boston University School of Medicine/Boston Medical Center 9/26: NHLBI Sickle Cell Disease Guidelines

Dr. Joylene John-Sowah, National Heart Lung and Blood Institute, NIH 10/24: Current Data on Efficacy and Effectiveness of Hydroxyurea in Children with Sickle Cell Disease Dr. Winfred Wang, St. Jude Children’s Research Hospital
November/December: --- No Webinars--- If you have ideas on topics for future webinars, or have any questions or comments about this series please submit them to Shae Pope spope@cdc.gov . The purpose of this webinar series is to offer a hemoglobinopathies learning collaborative platform for providers, consumers, educators, and scientists. CDC Web based Sickle Cell Resources CDC’s YouTube Link: http://www.youtube.com/watch?v=gnrvYsZWR1c&list=UUiMg06DjcUk5FRiM3g5sqoQ&index=2&feature=plpp_video CDC Video Archive (http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-health CDC Sickle Cell Disease Webpage: http://wwwdev.cdc.gov/NCBDDD/sicklecell/video.html Articles in the Medical Literature for June 1.
PLoS Med. 2013 Jul;10(7):e1001484. doi: 10.1371/journal.pmed.1001484. Epub 2013 Jul 16. Global Burden of Sickle Cell Anaemia in Children under Five, 2010-2050: Modelling Based on Demographics, Excess Mortality, and Interventions. Piel FB, Hay SI, Gupta S, Weatherall DJ, Williams TN.
Evolutionary Ecology of Infectious Disease, Department of Zoology, University of Oxford, Oxford, United Kingdom ; Spatial Ecology and Epidemiology Group, Department of Zoology, University of Oxford, Oxford, United Kingdom ; Global Network for Sickle Cell Disease, Toronto, Ontario, Canada. Abstract BACKGROUND:

The global burden of sickle cell anaemia (SCA) is set to rise as a consequence of improved survival in high-prevalence low- and middle-income countries and population migration to higher-income countries. The host of quantitative evidence documenting these changes has not been assembled at the global level. The purpose of this study is to estimate trends in the future number of newborns with SCA and the number of lives that could be saved in under-five children with SCA by the implementation of different levels of health interventions.
METHODS AND FINDINGS:
First, we calculated projected numbers of newborns with SCA for each 5-y interval between 2010 and 2050 by combining estimates of national SCA frequencies with projected demographic data. We then accounted for under-five mortality (U5m) projections and tested different levels of excess mortality for children with SCA, reflecting the benefits of implementing specific health interventions for under-five patients in 2015, to assess the number of lives that could be saved with appropriate health care services. The estimated number of newborns with SCA globally will increase from 305,800 (confidence interval [CI]: 238,400-398,800) in 2010 to 404,200 (CI: 242,500-657,600) in 2050. It is likely that Nigeria (2010: 91,000 newborns with SCA [CI: 77,900-106,100]; 2050: 140,800 [CI: 95,500-200,600]) and the Democratic Republic of the Congo (2010: 39,700 [CI: 32,600-48,800]; 2050: 44,700 [CI: 27,100-70,500]) will remain the countries most in need of policies for the prevention and management of SCA. We predict a decrease in the annual number of newborns with SCA in India (2010: 44,400 [CI: 33,700-59,100]; 2050: 33,900 [CI: 15,900-64,700]). The implementation of basic health interventions (e.g., prenatal diagnosis, penicillin prophylaxis, and vaccination) for SCA in 2015, leading to significant reductions in excess mortality among under-five children with SCA, could, by 2050, prolong the lives of 5,302,900 [CI: 3,174,800-6,699,100] newborns with SCA. Similarly, large-scale universal screening could save the lives of up to 9,806,000 (CI: 6,745,800-14,232,700) newborns with SCA globally, 85% (CI: 81%-88%) of whom will be born in sub-Saharan Africa. The study findings are limited by the uncertainty in the estimates and the assumptions around mortality reductions associated with interventions. CONCLUSIONS:

Our quantitative approach confirms that the global burden of SCA is increasing, and highlights the need to develop specific national policies for appropriate public health planning, particularly in low- and middle-income countries. Further empirical collaborative epidemiological studies are vital to assess current and future health care needs, especially in Nigeria, the Democratic Republic of the Congo, and India. Please see later in the article for the Editors' Summary. PMCID: PMC3712914 Free Article
PMID: 23874164 [PubMed - in process] Related citations
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PLoS Med. 2013 Jul;10(7):e1001483. doi: 10.1371/journal.pmed.1001483. Epub 2013 Jul 16. Sickle cell anaemia in a changing world. Fottrell E, Osrin D.

Institute for Global Health, UCL Institute of Child Health, London, United Kingdom ; Umeå Centre for Global Health Research, Umeå University, Umeå, Sweden. Abstract David Osrin and Edward Fottrell comment on new research by Frédéric Piel and colleagues on the growing burden of sickle cell anemia, and discuss the need for changing policy and health services in response to epidemiologic transitions in child mortality. Please see later in the article for the Editors' Summary. PMCID: PMC3712907 Free Article
PMID: 23874163 [PubMed - in process] Related citations
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3. J Control Release. 2013 Jul 17. pii: S0168-3659(13)00401-X. doi: 10.1016/j.jconrel.2013.07.008. [Epub ahead of print] Drug-Loaded Sickle Cells Programmed ex vivo for Delayed Hemolysis Target Hypoxic Tumor Microvessels and Augment Tumor Drug Delivery. Choe SW, Terman DS, Rivers AE, Rivera J, Lottenberg R, Sorg BS.
Gumi Electronics & Information Technology Research Institute, Gumi, Korea. Abstract
Selective drug delivery to hypoxic tumor niches remains a significant therapeutic challenge that calls for new conceptual approaches. Sickle red blood cells (SSRBCs) have shown an ability to target such hypoxic niches and induce tumoricidal properties when used together with exogenous pro-oxidants. Here we determine whether the delivery of a model therapeutic encapsulated in murine SSRBCs can be enhanced by ex vivo photosensitization under conditions that delay autohemolysis to a time that coincides with maximal localization of SSRBCs in a hypoxic tumor. Hyperspectral imaging of 4T1 carcinomas shows oxygen saturation levels <10% in a large fraction (commonly 50% or more) of the tumor. Using video microscopy of dorsal skin window chambers implanted with 4T1 tumors, we demonstrate that allogeneic SSRBCs, but not normal RBCs (nRBCs), selectively accumulate in hypoxic 4T1 tumors between 12-24 hours after systemic administration. We further show that ex vivo photo-oxidation can program SSRBCs to postpone hemolysis/release of a model therapeutic to a point that coincides with their maximum sequestration in hypoxic tumor microvessels. Under these conditions, drug-loaded photosensitized SSRBCs show a 3-4 fold greater drug delivery to tumors compared to non-photosensitized SSRBCs, drug-loaded photosensitized nRBCs, and free drug. These results demonstrate that photo-oxidized SSRBCs, but not photo-oxidized nRBCs, sequester and hemolyze in hypoxic tumors and release substantially more drug than photo-oxidized nRBCs and non-photo-oxidized SSRBCs. Photo-oxidation of drug-loaded SSRBCs thus appears to exploit the unique tumor targeting and carrier properties of SSRBCs to optimize drug delivery to hypoxic tumors. Such programmed and drug-loaded SSRBCs therefore represent a novel and useful tool for augmenting drug delivery to hypoxic solid tumors.
© 2013.
PMID: 23871960 [PubMed - as supplied by publisher]
Related citations 4. Pain Manag Nurs. 2013 Jul 16. pii: S1524-9042(13)00032-5. doi: 10.1016/j.pmn.2013.03.002. [Epub ahead of print] Adolescent Pediatric Pain Tool for Multidimensional Measurement of Pain in Children and Adolescents. Jacob E, Mack AK, Savedra M, Van Cleve L, Wilkie DJ.
University of California Los Angeles School of Nursing, Los Angeles, California. Electronic address: ejacob@sonnet.ucla.edu. Abstract
Very few multidimensional tools are available for measurement of pain in children and adolescents. We critically reviewed the scientific literature to examine the psychometrics and utility of the Adolescent Pediatric Pain Tool (APPT), a multidimensional self-report tool that evaluates the intensity, location, and quality (including affective, evaluative, sensory, and temporal) dimensions of pain. The APPT is available in English and Spanish for children and adolescents, and was modeled after the McGill Pain Questionnaire in adults. We found good evidence for construct validity, reliability, and sensitivity of the APPT for the measurement of pediatric pain. The APPT was used to measure pain in children with different conditions, such as cancer, sickle cell disease, orthopedic, traumatic injuries, and allergy testing. Although the APPT was designed to assess the multiple dimensions of pain, the majority of the reports included results only for the intensity ratings. Unlike the numerical and pediatric faces rating scales, which are widely used in clinical practice and research, the APPT is not limited to the single dimension of pain intensity. It measures multiple dimensions, and may be able to discriminate between nociceptive and neuropathic pain. The APPT is one of a few multidimensional pain measures that can help to advance the science of pediatric pain and its management. When the APPT is used in practice or research, the multiple dimensions of pain may be characterized and compared in different painful conditions. It may guide the use of multimodal interventions in children and adolescents with a variety of pain conditions. Copyright © 2013 American Society for Pain Management Nursing. Published by Elsevier Inc. All rights reserved. PMID: 23870767 [PubMed - as supplied by publisher]
Related citations 5.
J Clin Invest. 2013 Jul 1. pii: 67930. doi: 10.1172/JCI67930. [Epub ahead of print]
β-globin gene transfer to human bone marrow for sickle cell disease.
Romero Z, Urbinati F, Geiger S, Cooper AR, Wherley J, Kaufman ML, Hollis RP, de Assin RR, Senadheera S, Sahagian A, Jin X,Gellis A, Wang X, Gjertson D, Deoliveira S, Kempert P, Shupien S,Abdel-Azim H, Walters MC, Meiselman HJ, Wenby RB, Gruber T,Marder V, Coates TD, Kohn DB. Abstract
Autologous hematopoietic stem cell gene therapy is an approach to treating sickle cell disease (SCD) patients that may result in lower morbidity than allogeneic transplantation. We examined the potential of a lentiviral vector (LV) (CCL-βAS3-FB) encoding a human hemoglobin (HBB) gene engineered to impede sickle hemoglobin polymerization (HBBAS3) to transduce human BM CD34+ cells from SCD donors and prevent sickling of red blood cells produced by in vitro differentiation. The CCL-βAS3-FB LV transduced BM CD34+ cells from either healthy or SCD donors at similar levels, based on quantitative PCR and colony-forming unit progenitor analysis. Consistent expression of HBBAS3 mRNA and HbAS3 protein compromised a fourth of the total β-globin-like transcripts and hemoglobin (Hb) tetramers. Upon deoxygenation, a lower percentage of HBBAS3-transduced red blood cells exhibited sickling compared with mock-transduced cells from sickle donors. Transduced BM CD34+ cells were transplanted into immunodeficient mice, and the human cells recovered after 2-3 months were cultured for erythroid differentiation, which showed levels of HBBAS3 mRNA similar to those seen in the CD34+ cells that were directly differentiated in vitro. These results demonstrate that the CCL-βAS3-FB LV is capable of efficient transfer and consistent expression of an effective anti-sickling β-globin gene in human SCD BM CD34+ progenitor cells, improving physiologic parameters of the resulting red blood cells. PMID: 23863630 [PubMed - as supplied by publisher]
Related citations 6.
Am J Hematol. 2013 Jul 16. doi: 10.1002/ajh.23547. [Epub ahead of print] Pain and other non-neurological adverse events in children with sickle cell anemia and previous stroke who received hydroxyurea and phlebotomy or chronic transfusions and chelation: Results from the SWiTCH clinical trial.
Alvarez O, Yovetich NA, Scott JP, Owen W, Miller ST, Sickle Cell News for June 2013
June 19 World Sickle Cell Day
orld Sickle Cell Day Education http://www.ippmedia.com/frontend/index.php?l=56137 Sickle cell disease been ranked the biggest killer disease among children under the age of five after malaria, hence the need for the government and stakeholders to put in more efforts to fight it. Over 90 percent of Africans are the most sufferers of the disease followed by Asians and those loving in the Mediterranean area. This was revealed yesterday in Dar es Salaam by the Sickle Cell Foundation of Tanzania (SCFT) Chairperson, Grace Rubambey at the World Sickle Cell Day initiated by the World Health Organization (WHO) and celebrated on June 19 annually. Rubambey said Tanzania ranks fouth in the world, with the highest number of sickle cell disease births a year (up to 11,000), after Nigeria, India and DR Congo, adding that if untreated, up to 90 percent of children may die in childhood. She said Tanzania and Africa in general is in a position of having high rates of the disease due to poverty, as patients need good services like clean water and medical treatment which are still challenges in many countries on the continent.

“Early diagnosis of sickle cell in newborns as well as comprehensive care can effectively improve the situation and reduce mortality rate by 70 percent in some countries,” she noted. She said that low understanding of the disease has been identified as the biggest challenge among Tanzanians as there is a misleading notion that associates sickle cell with HIV/Aids hence leaving many scared of attending clinics. However, CSFT launched a campaign on sickle cell called “Cycle for Sickle Cell” which began in October 2012 and turned out successful as it helped raise awareness.

For his part, sickle cell department coordinator from the Muhimbili National Hospital (MNH), Deogratius Soka said USD2m equivalent to 3bn/- is required to start building a structure for the disease’s centre. He however said as of now awareness among the public has increased whereby the number of patients attending has increased from 800 in 2004 to 4,000 this year.

He said since MNH already has a department dealing with sickle cell, they now focus on reaching other hospitals which don’t have the section by supporting them with experts and facilities. He added that Tanzania intends to introduce screening for newborns and strengthen sickle cell services in health facilities at all levels.
Soka noted that there are advances in medicine and improved knowledge on the management of sickle cell that can be implemented in Tanzania to reduce mortality and improve the quality of life of people with the disease. Meanwhile, Kenya Commercial Bank (KCB) branch manager Philipo Pilla said the foundation needs more support from various institutions so that it reaches more people.

He added that several people are suffering but know nothing about the disease, thus more education is needed to increase awareness. SICKLE CELL FOUNDATION NIGERIA (SCFN)

www.sicklecellfoundation.com The SCFN has, arguably, the most comprehensive Sickle Cell Centre in Africa. With donor support, we supervise, in 4 Nigerian States, the running of 6 Sickle Cell Clinics involving a free supply of drugs, some materials and some equipment. More States will be added when financial provision permits. Already, these dedicated clinics have positively impacted the longevity and quality of lives of patients. Other routine services include an e-library on SCD (membership available); genetic counseling; patient and community education; TCD scanning of children to determine risk of stroke; laboratory diagnosis; leg ulcer treatment; chorionic villus sampling (CVS) for prenatal diagnosis (PND). Access to PND is limited by the cost of having to send samples to England for DNA diagnosis. Our DNA laboratory requires some equipment and materials to enable it attain world standard, complete PND locally and thus improve access to the service. We also run training courses on Genetic Counseling, Update Seminars for doctors and nurses; Practical training on TCD scanning and on CVS under ultrasound guidance. We invite collaboration on research and office space and accommodation are available for visiting researchers. Our immediate needs are 1. 1 Apheresis machine
2. For DNA analysis

2. 1 Thermocycler (0.2ml tube)
2.2 Nano drop Spectrophotometer
2.3 GeneMapper ® ID-X v1.2 Software, Full Version for 3500 Genetic analyser
2.4 Gel Tank and Power Pack
Contact: Annette Akinsete annettea@sicklecellfoundation.com
Olu Akinyanju oakinyanju@sicklecellfoundation.com
New Free Publications from the CDC All available at http://www.cdc.gov/ncbddd/sicklecell/freematerials.html The Registry and Surveillance System for Hemoglobinopathies (RuSH) data for several states Toolkit for Living Well with Sickle Cell Disease Adobe PDF file Fact Sheet: Sickle Cell Disease Adobe PDF file Sickle Cell Disease National Resource Directory Adobe PDF file The Sickle Cell Disease National Resource Directory is a compilation of national agencies, state-based health providers, and community-based organizations that provide services and resources for individuals and families affected by SCD. New Video

Sickle Cell Disease on the Doctors TV show http://www.thedoctorstv.com/main/show_synopsis/1221?section=synopsis CDC webinar: from May Baby on Board: What You Need to Know about Pregnancy in the Hemoglobinopathies Dr. Sophie Lanzkron, Sickle Cell Center for Adults at Johns Hopkins Hospital mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDCbabyonboard.wmv SAVE THE DATES

Fellow colleagues, you are invited to participate in the“Public Health Webinar Series on Hemoglobinopathies” Hosted by: The Division of Blood Disorders, CDC 4th Thursday of every month from 2:00PM – 3:00PM EST
6/27: Beta-globin Haplotype Analysis in Children with Sickle Cell Anemia
Dr. Christopher Bean, National Center on Birth Defects and Developmental Disabilities, CDC
7/25: Nurses’ Impact on the Stigmatization of Individuals with Sickle Cell: Challenges and Recommendations
Dr. Coretta Jenerette, International Association of Sickle Cell Nurses and Physician Assistants
8/22: Mental Health and Learning Needs in children with Sickle Cell Disease
Dr. Patricia Kavanagh, Boston University School of Medicine/Boston Medical Center
9/26: NHLBI Sickle Cell Disease Guidelines
Dr. Joylene John-Sowah, National Heart Lung and Blood Institute, NIH
10/24: Current Data on Efficacy and Effectiveness of Hydroxyurea in Children with Sickle Cell Disease
Dr. Winfred Wang, St. Jude Children’s Research Hospital
November/December: --- No Webinars---
If you have ideas on topics for future webinars, or have any questions or comments about this series please submit them to Shae Pope spope@cdc.gov . The purpose of this webinar series is to offer a hemoglobinopathies learning collaborative platform for providers, consumers, educators, and scientists. CDC Web based Sickle Cell Resources CDC’s YouTube Link: http://www.youtube.com/watch?v=gnrvYsZWR1c&list=UUiMg06DjcUk5FRiM3g5sqoQ&index=2&feature=plpp_video CDC Video Archive (http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-health CDC Sickle Cell Disease Webpage: http://wwwdev.cdc.gov/NCBDDD/sicklecell/video.html Articles in the Medical Literature for June 1. Clin Chim Acta. 2013 Jun 21. pii: S0009-8981(13)00248-9. doi: 10.1016/j.cca.2013.06.007. [Epub ahead of print] HPLC-ESI-MS/MS analysis of hemoglobin peptides in tryptic digests of dried-blood spot extracts detects HbS, HbC, HbD, HbE, HbO-Arab, and HbG-Philadelphia mutations. Haynes CA, Guerra SL, Fontana JC, Dejesús VR. Biochemical Mass Spectrometry Laboratory, Centers for Disease Control and Prevention, 4770 Buford Hwy. NE, Mail Stop F-19, Atlanta, GA, 30341. Electronic address: cph7@cdc.gov. Abstract BACKGROUND: Hemoglobinopathies are mutations resulting in abnormal globin chain structure; some have clinically significant outcomes such as anemia or reduced lifespan. Five β-globinmutations are (c.20A>T, p.E6V), (c.19G>A, p. E6K),(c.79G>A, p.E26K),(c.364G>C, p.E121Q), and(c.364G>A, p.E121K), resulting in HbS (sickle-cell hemoglobin), HbC, HbE,HbD-Los Angeles, and HbO-Arab, respectively. One α-globin mutation is (c.[207C>G or 207C>A], p.N68K), resulting in HbG-Philadelphia. METHODS: HPLC-ESI-MS/MS analysis of dried-blood spot (DBS) punches from newborns extracted with a trypsin-containing solution provides greater than 90% coverage of α-, β-, and γ-globinamino acid sequences. Because the(c.20A>T, p.E6V), (c.19G>A, p. E6K), (c.79G>A, p.E26K), (c.364G>C, p.E121Q), (c.364G>A, p.E121K), and (c.[207C>G or 207C>A], p.N68K)mutations generate globinpeptides with novel amino acid sequences, detecting one of these peptides in DBS extracts is indicative of the presence of ahemoglobinopathy in the newborn. RESULTS: The method described here can distinguish normal β-globin peptides from the mutant HbS,HbC, HbE,HbD-Los AngelesandHbO-Arab peptides, as well as normal α-globin peptide from the mutant HbG-Philadelphia peptide, allowing the identification of unaffected heterozygotes such as HbAS, and of compound heterozygotes such as HbASG-Philadelphia. CONCLUSIONS: This HPLC-ESI-MS/MS analytical approach provides informationthat is not available from traditional hemoglobin analyses such as isoelectric focusing and HPLC-UV. It is also capable of determining the amino acid sequence of hemoglobinpeptides, potentially allowing the detection of numerous hemoglobinopathiesresulting from point mutations. Published by Elsevier B.V. PMID: 23796846 [PubMed - as supplied by publisher] 2. Pediatr Blood Cancer. 2013 Jun 17. doi: 10.1002/pbc.24624. [Epub ahead of print] Clinically meaningful measurement of pain in children with sickle cell disease. Myrvik MP, Brandow AM, Drendel AL, Yan K, Hoffmann RG, Panepinto JA. Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin; Division of Pediatric Hematology/Oncology/Transplant, Medical College of Wisconsin, Milwaukee, Wisconsin. Abstract BACKGROUND: Limited understanding of the interpretability of patient-reported pain scores may impact pain management. The current study assessed the minimal clinically significant improvement in pain and pain scores signifying patient-reported need for medication and treatment satisfaction in patients with sickle cell disease (SCD). PROCEDURE: Patients, 8-18-years-old, with SCD were recruited while receiving treatment for pain. Patients completed initial pain severity ratings using the Visual Analog Scale (VAS) and the Numeric Rating Scale (NRS). Serial assessments of pain severity, pain relief, perceived need for medication, and treatment satisfaction were completed in the emergency department and the hospitalization. Data were used to calculate the minimal clinically significant improvement in pain and pain scores associated with perceived need for pain medication and treatment satisfaction. RESULTS: Twenty-eight patients completed 305 assessments during 37 total visits. A decrease in pain severity score of 0.97 cm for the VAS and 0.9 for the NRS was found to be the minimum clinically significant improvement in pain. Pain scores >7.45 cm on the VAS or 7.5 on the NRS were suggestive of patient-reported need for pain medication. Pain scores <7.35 cm on the VAS or 8.5 on the NRS were suggestive of patient-reported treatment satisfaction discrimination. CONCLUSIONS: The minimal clinical significant improvement was defined for the VAS and NRS and both scales were able to discriminate between important clinical findings including pain relief, need for pain medication, and treatment satisfaction. Collectively, this study provides data to improve our understanding of pain ratings of pediatric patients with SCD. Pediatr Blood Cancer 2013;9999:1-7. © 2013 Wiley Periodicals, Inc. Copyright © 2013 Wiley Periodicals, Inc. PMID: 23776145 [PubMed - as supplied by publisher] Related citations 3. Pediatr Blood Cancer. 2013 Jun 18. doi: 10.1002/pbc.24630. [Epub ahead of print] Trends in blood transfusion among hospitalized children with sickle cell disease. Raphael JL, Oyeku SO, Kowalkowski MA, Mueller BU, Ellison AM. Department of Pediatrics, Baylor College of Medicine, Houston, Texas. Abstract BACKGROUND: Blood transfusions represent a major therapeutic option in acute management of sickle cell disease (SCD). Few data exist documenting trends in transfusion among children with SCD, particularly during hospitalization. PROCEDURE: This was an analysis of cross-sectional data of hospital discharges within the Kid's Inpatient Database (years 1997, 2000, 2003, 2006, 2009). Hospitalizations for children (0-18 years) with a primary or secondary SCD-related diagnosis were examined. The primary outcome was blood transfusion. Trends in transfusion were assessed using weighted multivariate logistic regression in a merged dataset with year as the primary independent variable. Co-variables consisted of child and hospital characteristics. Multivariate logistic regression was conducted for 2009 data to assess child and hospital-level factors associated with transfusion. RESULTS: From 1997 to 2009, the percentage of SCD-related hospitalizations with transfusion increased from 14.2% to 28.8% (P < 0.0001). Among all SCD-related hospitalizations, the odds of transfusion increased over 20% for each successive study interval. Hospitalizations with vaso-occlusive pain crisis (OR 1.35, 95% CI 1.27-1.43) or acute chest syndrome/pneumonia (OR 1.24, 95% CI 1.13-1.35) as the primary diagnoses had the highest odds of transfusion for each consecutive study interval. Older age and male gender were associated with higher odds of transfusion. CONCLUSIONS: Blood transfusion is increasing over time among hospitalized children with SCD. Further study is warranted to identify indications contributing to the rise in transfusions and if transfusions in the inpatient setting have been used appropriately. Future studies should also assess the impact of rising trends on morbidity, mortality, and other health-related outcomes. Pediatr Blood Cancer © 2013 Wiley Periodicals, Inc. Copyright © 2013 Wiley Periodicals, Inc. PMID: 23775719 [PubMed - as supplied by publisher] Related citations 4. Blood. 2013 Jun 17. [Epub ahead of print] Mast cell activation contributes to sickle cell pathobiology and pain. Vincent L, Vang D, Nguyen J, Gupta M, Luk K, Ericson ME, Simone DA, Gupta K. Vascular Biology Center, Division of Hematology, Oncology & Transplantation, Department of Medicine, University of Minnesota, Minneapolis, MN, United States; Abstract Sickle cell anemia (SCA) is an inherited disorder associated with severe life-long pain and significant morbidity. The mechanisms of pain in SCA remain poorly understood. We show that mast cell activation/degranulation contributes to sickle pain pathophysiology by promoting neurogenic inflammation and nociceptor activation via the release of substance P in the skin and dorsal root ganglion. Mast cell inhibition with imatinib ameliorated cytokine release from skin biopsies and led to a correlative decrease between GMCSF and white blood cells in sickle mice. Targeting mast cells by genetic mutation or pharmacologic inhibition with imatinib ameliorates tonic hyperalgesia and prevents hypoxia/reoxygenation-induced hyperalgesia in sickle mice. Pre-treatment with the mast cell stabilizer Cromolyn sodium improved analgesia following low doses of morphine that would otherwise be ineffective. Mast cell activation therefore underlies sickle pathophysiology leading to inflammation, vascular dysfunction, pain and requirement for high doses of morphine. Pharmacological targeting of mast cells with imatinib may be a suitable approach to address pain and perhaps treat SCA. PMID: 23775718 [PubMed - as supplied by publisher] Related citations Icon for HighWire 5. Cochrane Database Syst Rev. 2013 Jun 12;6:CD010155. [Epub ahead of print] Low-molecular-weight heparins for managing vaso-occlusive crises in people with sickle cell disease. van Zuuren EJ, Fedorowicz Z. Department of Dermatology, Leiden University Medical Center, PO Box 9600, B1-Q, Leiden, Netherlands, 2300 RC. Abstract BACKGROUND: Sickle cell disease is one of the most common and severe genetic disorders in the world. It can be broadly divided into two distinct clinical phenotypes characterized by either haemolysis or vaso-occlusion. Pain is the most prominent symptom of vaso-occlusion, and hypercoagulability is a well-established pathogenic phenomenon in people with sickle cell disease. Low-molecular-weight heparins might control this hypercoagulable state through their anticoagulant effect. OBJECTIVES: To assess the effects of low-molecular-weight heparins for managing vaso-occlusive crises in people with sickle cell disease. SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Haemoglobinopathies Trials Register comprising references identified from comprehensive electronic database searches. We also searched abstract books of conference proceedings and several online trials registries for ongoing trials.Date of the last search of the Cochrane Cystic Fibrosis and Genetic Disorders Group Haemoglobinopathies Trials Register: 6 December 2012. SELECTION CRITERIA: Randomised controlled clinical trials and controlled clinical trials that assessed the effects of low-molecular-weight heparins in the management of vaso-occlusive crises in people with sickle cell disease. DATA COLLECTION AND ANALYSIS: Study selection, data extraction, assessment of risk of bias and analyses were carried out independently by the two review authors. MAIN RESULTS: One study (with an overall unclear to high risk of bias) comprising 253 participants was included. This study, with limited data, reported that pain severity at day two and day three was lower in the tinzaparin group than in the placebo group (P < 0.01, analysis of variance (ANOVA)) and additionally at day 4 (P < 0.05 (ANOVA)). Thus tinzaparin resulted in more rapid resolution of pain, as measured with a numerical pain scale. The mean difference in duration of painful crises was statistically significant at -1.78 days in favour of the tinzaparin group (95% confidence interval -1.94 to -1.62). Participants treated with tinzaparin had statistically significantly fewer hospitalisation days than participants in the group treated with placebo, with a mean difference of -4.98 days (95% confidence interval -5.48 to -4.48). Two minor bleeding events were reported as adverse events in the tinzaparin group, and none were reported in the placebo group. AUTHORS' CONCLUSIONS: Based on the results of one study, evidence is incomplete to support or refute the effectiveness of low-molecular-weight heparins in people with sickle cell disease. Vaso-occlusive crises are extremely debilitating for sufferers of sickle cell disease; therefore well-designed placebo-controlled studies with other types of low-molecular-weight heparins, and in participants with different genotypes of sickle cell disease, still need to be carried out to confirm or dismiss the results of this single study. PMID: 23760785 [PubMed - as supplied by publisher] Related citations 6. PLoS One. 2013 Jun 6;8(6):e65001. doi: 10.1371/journal.pone.0065001. Print 2013. Dilemma in Differentiating between Acute Osteomyelitis and Bone Infarction in Children with Sickle Cell Disease: The Role of Ultrasound. Inusa BP, Oyewo A, Brokke F, Santhikumaran G, Jogeesvaran KH. Department of Paediatrics, Evelina Children's Hospital, Guy's and St. Thomas' National Health Service (NHS) Foundation Trust, London, United Kingdom. Abstract BACKGROUND: Distinguishing between acute presentations of osteomyelitis (OM) and vaso-occlusive crisis (VOC) bone infarction in children with sickle cell disease (SCD) remains challenging for clinicians, particularly in culture-negative cases. We examined the combined role of ultrasound scan (USS), C - reactive protein and White blood counts (WCC) in aiding early diagnosis in children with SCD presenting acutely with non-specific symptoms such as bone pain, fever or swelling which are common in acute osteomyelitis or VOC. METHODS: We reviewed the records of all children with SCD who were discharged from our department from October 2003 to December 2010 with a diagnosis of osteomyelitis based on clinical features and the results of radiological and laboratory investigations. A case control group with VOC who were investigated for OM were identified over the same period. RESULTS: In the osteomyelitis group, USS finding of periosteal elevation and/or fluid collection was reported in 76% cases with the first scan (day 0-6). Overall 84% were diagnosed with USS (initial +repeat). 16% had negative USS. With VOC group, USS showed no evidence of fluid collection in 53/58 admissions (91%), none of the repeated USS showed any fluid collection. Mean C-reactive protein (CRP), and white cell count (WCC) were significantly higher in the OM. CONCLUSION: The use of Ultrasound in combination with CRP and WCC is a reliable, cost-effective diagnostic tool for differentiating osteomyelitis from VOC bone infarction in SCD. A repeat ultrasound and/or magnetic resonance imaging (MRI) scan may be is necessary to confirm the diagnosis. PMCID: PMC3675051 Free PMC Article PMID: 23755165 [PubMed - in process] Related citations Icon for Public Library of ScienceIcon for PubMed Central 7. PLoS Negl Trop Dis. 2013 May 30;7(5):e2120. doi: 10.1371/journal.pntd.0002120. Print 2013 May. Is sickle cell anemia a neglected tropical disease? Ware RE. Texas Children's Center for Global Health, Texas Children's Hospital, Houston, Texas, United States of America ; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States of America. PMCID: PMC3671937 Free PMC Article PMID: 23750287 [PubMed - in process] Related citations Icon for Public Library of ScienceIcon for PubMed Central 8. Atherosclerosis. 2013 May 16. pii: S0021-9150(13)00309-2. doi: 10.1016/j.atherosclerosis.2013.05.006. [Epub ahead of print] Stroke in sickle cell anemia patients: A need for multidisciplinary approaches. Menaa F. Center of Hematology and Hemotherapy (Hemocentro), School of Medicine and Medical Sciences (FCM), University of Campinas (UNICAMP), São Paulo, Brazil; Laboratory of Human Molecular Genetics, Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas (UNICAMP), São Paulo, Brazil; Department of Nanomedicine and Biochemistry, Fluorotronics, Inc., San Diego, CA, USA. Electronic address: dr.fmenaa@gmail.com. Abstract Sickle cell anemia (SCA) is an autosomal recessive disorder, with Mendelian inheritance pattern, caused by a missense mutation in the β-polypeptide chain of the hemoglobin B. SCA preferentially affects populations in countries where malaria was/is present (e.g. Africa, USA, Brazil). Thereby, in USA, the incidence of SCA is relatively high, around 1/500, and the prevalence is about 1/1000. In Brazil, SCA represents a major public health problem with an incidence ranging from 1/2000 to 1/600 depending on the regions. Homozygotic patients present more severe medical conditions and reduced life expectancy than heterozygous individuals who generally are asymptomatic. Eventually, this life-threatening disease displays a complex etiology owing to heterogeneous phenotypes and clinical outcomes, subsequently affecting the management of the patients. One of the most critical complications associated with SCA is stroke, a leading neurologic cause of death and disability. About 24% of SCA patients have a stroke by the age of 45 and 11% by the age of 20. From the general population, twin and familial aggregation studies as well as genome-wide association studies (GWAS), mostly in pediatric populations with ischemic stroke, showed that the risk of stroke has a substantial genetic component. Nevertheless, to fully characterize genomic contributors of stroke and permit reliable personalized medicine, multidisciplinary studies incorporating knowledge from clinical medicine, epidemiology, genetics, and molecular biology, are required. In this manuscript, stroke in SCA patients is extensively reviewed with emphasis to the US and Brazilian populations. Recent advances in genomics analysis of stroke in SCA patients are highlighted. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved. PMID: 23746538 [PubMed - as supplied by publisher] Related citations 9. Cochrane Database Syst Rev. 2013 May 31;5:CD007001. doi: 10.1002/14651858.CD007001.pub3. Hematopoietic stem cell transplantation for people with sickle cell disease. Oringanje C, Nemecek E, Oniyangi O. Institute of Tropical Disease Research and Prevention, University of Calabar Teaching Hospital, Calabar, Nigeria. chyoma12@yahoo.com. Update of Cochrane Database Syst Rev. 2009;(1):CD007001. Abstract BACKGROUND: Sickle cell disease is a genetic disorder involving a defect in the red blood cells due to its sickled hemoglobin. The main therapeutic interventions include preventive and supportive measures. Hematopoietic stem cell transplantations are carried out with the aim of replacing the defective cells and their progenitors (hematopoietic (i.e. blood forming) stem cells) in order to correct the disorder. OBJECTIVES: To determine whether stem cell transplantation can improve survival and prevent symptoms and complications associated with sickle cell disease. To examine the risks of stem cell transplantation against the potential long-term gain for people with sickle cell disease. SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Group's Haemoglobinopathies Trials Register complied from electronic searches of the Cochrane Central Register of Controlled Trials (CENTRAL) (updated each new issue of The Cochrane Library) and quarterly searches of MEDLINE.Unpublished work was identified by searching the abstract books of major conference proceedings and we conducted a search of the website: www.ClinicalTrials.gov.Date of the most recent search of the Group's Haemoglobinopathies Trials Register: 16 August 2012. SELECTION CRITERIA: Randomized controlled and quasi-randomized studies that compared any method of stem cell transplantation with either each other or with any of the preventive or supportive interventions (e.g. periodic blood transfusion, use of hydroxyurea, antibiotics, pain relievers, supplemental oxygen) in people with sickle cell disease irrespective of the type of sickle cell disease, gender and setting. DATA COLLECTION AND ANALYSIS: No relevant trials were identified. MAIN RESULTS: Ten trials were identified by the initial search and none for the update. None of these trials were suitable for inclusion in this review. AUTHORS' CONCLUSIONS: Reports on the use of hematopoietic stem cell transplantation improving survival and preventing symptoms and complications associated with sickle cell disease are currently limited to observational and other less robust studies. No randomized controlled trial assessing the benefit or risk of hematopoietic stem cell transplantations was found. Thus, this systematic review identifies the need for a multicentre randomized controlled trial assessing the benefits and possible risks of hematopoietic stem cell transplantations comparing sickle status and severity of disease in people with sickle cell disease. PMID: 23728664 [PubMed - in process] Related citations 10. Cochrane Database Syst Rev. 2013 May 31;5:CD003425. doi: 10.1002/14651858.CD003425.pub2. Splenectomy versus conservative management for acute sequestration crises in people with sickle cell disease. Owusu-Ofori S, Hirst C. Transfusion Medicine Unit, Komfo Anokye Teaching Hospital, Kumasi, Ghana.sowusu_ofori@hotmail.com. Update of Cochrane Database Syst Rev. 2002;(4):CD003425. Abstract BACKGROUND: Acute splenic sequestration crises are a complication of sickle cell disease, with high mortality rates and frequent recurrence in survivors of first attacks. Splenectomy and blood transfusion, with their consequences, are the mainstay of long-term management used in different parts of the world. OBJECTIVES: To assess whether splenectomy (total or partial), to prevent acute splenic sequestration crises in people with sickle cell disease, improved survival and decreased morbidity in people with sickle cell disease, as compared with regular blood transfusions. SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Haemoglobinopathies Trials Register, which comprises of references identified from comprehensive electronic database searches and handsearching relevant journals and abstract books of conference proceedings.Additional trials were sought from the reference lists of the trials and reviews identified by the search strategy.Date of the most recent search: 06 December 2012. SELECTION CRITERIA: All randomized or quasi-randomized controlled trials comparing splenectomy (total or partial) to prevent recurrence of acute splenic sequestration crises with no treatment or blood transfusions in people with sickle cell disease. DATA COLLECTION AND ANALYSIS: No trials of splenectomy for acute splenic sequestration were found. MAIN RESULTS: No trials of splenectomy for acute splenic sequestration were found. AUTHORS' CONCLUSIONS: Splenectomy, if full, will prevent further sequestration and if partial, may reduce the recurrence of acute splenic sequestration crises. However, there is a lack of evidence from trials showing that splenectomy improves survival and decreases morbidity in people with sickle cell disease. There is a need for a well-designed, adequately-powered, randomized controlled trial to assess the benefits and risks of splenectomy compared to transfusion programmes, as a means of improving survival and decreasing mortality from acute splenic sequestration in people with sickle cell disease. PMID: 23728644 [PubMed - in process] Related citations 11. J Arthroplasty. 2013 May 28. pii: S0883-5403(13)00259-3. doi: 10.1016/j.arth.2013.03.017. [Epub ahead of print] Excellent Results and Minimal Complications of Total Hip Arthroplasty in Sickle Cell Hemoglobinopathy at Mid-Term Follow-Up Using Cementless Prosthetic Components. Issa K, Naziri Q, Maheshwari AV, Rasquinha VJ, Delanois RE, Mont MA. Rubin Institute for Advanced Orthopedics, Center for Joint Preservation and Replacement, Sinai Hospital of Baltimore, Baltimore, Maryland. Abstract The purpose of this study was to compare the outcomes of cementless primary total hip arthroplasty (THA) in sickle cell patients compared to the remaining cohort of osteonecrosis patients who did not have this disease. Thirty-two sickle cell patients (42 hips) who had a mean age of 37years and mean follow-up of 7.5years (range, 5-11years) were compared to 87 non-sickle cell osteonecrosis patients (102 hips) who had mean age of 43years and mean follow-up of 7years (range, 3-10.5years). Outcomes evaluated included implant survivorship, Harris hip scores, complication rates, radiographic outcomes, and Short Form-(SF-36) health questionnaire. There were no significant differences in aseptic implant survivorship (95 vs. 97%), Harris hip scores (87 vs. 88 points), SF-36 score, or radiographic findings between the two patient cohorts. In light of these findings, we believe that the outcomes of THA improved in sickle cell patients with optimized medical management and the use of cementless prosthetic devices. Copyright © 2013 Elsevier Inc. All rights reserved. PMID: 23726348 [PubMed - as supplied by publisher] Related citations Sickle Cell Conferences and Events SCDAA 41ST ANNUAL CONVENTION BALTIMORE MD September 24th - 27th "2013 Moving Forward: Advocating for New Discoveries, Advancements and Breakthroughs"http://www.sicklecelldisease.org/index.cfm?page=annual-convention ESH Eurocord-Ed Eurocord World Cord Blood Congress IV and Innovative Therapies for Sickle Cell Disease Oct 24 – 27, 2013 Monaco http://www.esh.org/conference/esh-eurocord-ed-eurocord-world-cord-blood-congress-iv/ 7th Annual Sickle Cell and Thalassaemia Conference: UK 3-5 October 2013 Improving the quality of life for patients affected with Sickle Cell Disease and Thalassaemia Now in its seventh year, this annual Sickle Cell Disease and Thalassaemia Conference run by Evelina Children’s Hospital at Guy's and St Thomas' NHS Foundation Trust will take place from3rd to 5th October 2013.Combining theory and clinical practice and drawing on the latest research in the field, this annual Conference is intended for all those health care professionals involved in the diagnosis, treatment and care of patients with Sickle Disease and Thalassaemia.To book or for further information, please visit the website www.guysandstthomasevents.co.uk Global Sickle Cell Diseases Network Conference: Rio De Janeiro, Brazil, April 9-11, 2014website www.globalsicklecelldisease.org Sickle Cell News for May 2013 June 19 World Sickle Cell Day http://worldsicklecellday.webs.com/ The World Health Organization (WHO) has started work to promote a world wide agenda to address hemoglobin dysfunctions. WHO has made a commitment to: Recognize that sickle cell disease is a major health issue. Increase awareness of the world community regarding sickle cell disease. Eliminate harmful and wrong prejudices associated with sickle cell disease. Urges member countries where sickle cell disease is a public health problem to establish health programs at the national level and operate specialized centers for sickle cell disease and facilitate access to treatment. Promote satisfactory access to medical services to people affected with sickle cell disease. Provide technical support to all countries to prevent and manage sickle cell disease. Promote and help research to improve the lives of people affected with sickle cell disease. The World Sickle Cell day is celebrated across the globe with special emphasis in African Nations and Asia. The celebrations include a press, media campaigns, music shows, cultural activities, and talk shows. The main emphasis is hence on educating medical professionals, care givers, and associated personnel about prevention, research, and resources to minimize the complications due to sickle cell disease. Hence June 19th is devoted mainly to spread awareness, through talks, seminars, pamphlets, literature and consultations. SCDAA Announces Kier "Junior" Spates as Ambassador http://www.sicklecelldisease.org/index.cfm?page=news&id=34 Comedian Kier "Junior" Spates of the Steve Harvey Morning Show is joining the fight against sickle cell disease. Spates signed on as the national celebrity ambassador for the Sickle Cell Disease Association of America, Inc. (SCDAA) after recently speaking out about his struggle with the disease. Together, SCDAA and Spates will launch the "Rise Above" initiative. The campaign will educate and raise awareness about the blood disease across the nation. Spates, a native of Houston, Texas, boasts an impressive resume that includes television spots on Black Entertainment Television, collaborative efforts on the "Rickey Smiley and Friends" show and his role in Hinton Battle's "Love Lies" stage play. He is most notably known today for his hilarious and high energy commentary on the Steve Harvey Morning Show. "We are excited to work with such a bright talent as Kier. He is the perfect choice for raising awareness about sickle cell disease in addition to spreading joy to those who support our cause," says SCDAA President Sonja Banks. Spates is also living with sickle cell disease. He hopes to inspire others and increase the support and visibility of the disease through this recent partnership with the SCDAA. Please visitwww.facebook.com/riseabovecampaign for updates about SCDAA's joint "Rise Above" campaign with Spates. New Video New Parents hand book and Children’s DVD produced in the UK The 3rd Edition of, 'A Parents guide to managing Sickle Cell Disease', in English is available on the UK national screening web site www.sct.screening.nhs.ukand on the Brent Centre web site www.sickle-thal.nwlh.nhs.uk. It is being translated into French also and will be available in the summer. A new children's DVD, 'My Sickle Cell Disease and Me', funded by Roald Dhal, aimed at children aged 5 - 11years is available on the Brent Centre web site www.sickle-thal.nwlh.nhs.uk SAVE THE DATES Fellow colleagues, you are invited to participate in the“Public Health Webinar Series on Hemoglobinopathies” Hosted by: The Division of Blood Disorders, CDC 4th Thursday of every month from 2:00PM – 3:00PM EST 6/27: Beta-globin Haplotype Analysis in Children with Sickle Cell Anemia Dr. Christopher Bean, National Center on Birth Defects and Developmental Disabilities, CDC 7/25: Nurses’ Impact on the Stigmatization of Individuals with Sickle Cell: Challenges and Recommendations Dr. Coretta Jenerette, International Association of Sickle Cell Nurses and Physician Assistants 8/22: Mental Health and Learning Needs in children with Sickle Cell Disease Dr. Patricia Kavanagh, Boston University School of Medicine/Boston Medical Center 9/26: NHLBI Sickle Cell Disease Guidelines Dr. Joylene John-Sowah, National Heart Lung and Blood Institute, NIH 10/24: Current Data on Efficacy and Effectiveness of Hydroxyurea in Children with Sickle Cell Disease Dr. Winfred Wang, St. Jude Children’s Research Hospital November/December: --- No Webinars--- If you have ideas on topics for future webinars, or have any questions or comments about this series please submit them to Shae Pope spope@cdc.gov . The purpose of this webinar series is to offer a hemoglobinopathies learning collaborative platform for providers, consumers, educators, and scientists. ... CDC Web based Sickle Cell Resources CDC’s YouTube Link: http://www.youtube.com/watch?v=gnrvYsZWR1c&list=UUiMg06DjcUk5FRiM3g5sqoQ&index=2&feature=plpp_video CDC Video Archive (http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-health CDC Sickle Cell Disease Webpage: http://wwwdev.cdc.gov/NCBDDD/sicklecell/video.html Articles in the Medical Literature for May 1. J Pain. 2013 May 20. pii: S1526-5900(13)00938-3. doi: 10.1016/j.jpain.2013.03.007. [Epub ahead of print] Validation of the Sickle Cell Disease Pain Burden Interview-Youth. Zempsky WT, O'Hara EA, Santanelli JP, Palermo TM, New T, Smith-Whitley K, Casella JF. Division of Pain and Palliative Medicine, Department of Pediatrics, Connecticut Children's Medical Center, Hartford, Connecticut; University of Connecticut School of Medicine, Farmington, Connecticut. Electronic address: wzempsk@ccmckids.org. Abstract The purpose of this study was to develop and validate a brief, clinically relevant, multidimensional interview to assess pain burden among children and adolescents with sickle cell disease (SCD). The Sickle Cell Disease Pain Burden Interview-Youth (SCPBI-Y) was developed using a panel of experts, patients, and caregivers. Validation was undertaken with children and youth with SCD, ages 7 to 21 years (N = 129), recruited from 4 urban children's hospitals. Participants were recruited from inpatient (n = 62) and outpatient (n = 67) settings. The SCPBI-Y demonstrated strong internal consistency reliability, cross-informant concordance (child-caregiver), and test-retest reliability (outpatient setting). Moderate construct validity was found with validated measures of functional ability, pain, and quality of life. The SCPBI-Y demonstrated construct validity using a contrasted group approach between youth in inpatient versus outpatient settings and by severity of SCD symptoms, suggesting that youth in inpatient settings and with higher disease severity exhibited greater pain burden. Discriminant validity was found between SCPBI-Y and mood. Our preliminary findings suggest that the SCPBI-Y is a valid and reliable multidimensional interview that can be used in different clinical settings to evaluate pain burden among children and adolescents with SCD. PERSPECTIVE: Multifaceted pain assessments are salient in providing optimal care to children and adolescents with SCD; however, current evaluations are lengthy and cumbersome to administer clinically. The current study introduces and validates a brief, clinically useful multidimensional interview to evaluate pain burden specific to youth with SCD. Copyright © 2013 American Pain Society. Published by Elsevier Inc. All rights reserved. PMID: 23701707 [PubMed - as supplied by publisher] Related citations 2. PLoS Pathog. 2013 May;9(5):e1003327. doi: 10.1371/journal.ppat.1003327. Epub 2013 May 16. Hemoglobinopathies: Slicing the Gordian Knot of Plasmodium falciparum Malaria Pathogenesis. Taylor SM, Cerami C, Fairhurst RM. Division of Infectious Diseases and International Health, Duke University Medical Center, Durham, North Carolina, United States of America ; Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, North Carolina, United States of America. Abstract Plasmodium falciparum malaria kills over 500,000 children every year and has been a scourge of humans for millennia. Owing to the co-evolution of humans and P. falciparum parasites, the human genome is imprinted with polymorphisms that not only confer innate resistance to falciparum malaria, but also cause hemoglobinopathies. These genetic traits-including hemoglobin S (HbS), hemoglobin C (HbC), and α-thalassemia-are the most common monogenic human disorders and can confer remarkable degrees of protection from severe, life-threatening falciparum malaria in African children: the risk is reduced 70% by homozygous HbC and 90% by heterozygous HbS (sickle-cell trait). Importantly, this protection is principally present for severe disease and largely absent for P. falciparum infection, suggesting that these hemoglobinopathies specifically neutralize the parasite's in vivo mechanisms of pathogenesis. These hemoglobin variants thus represent a "natural experiment" to identify the cellular and molecular mechanisms by which P. falciparum produces clinical morbidity, which remain partially obscured due to the complexity of interactions between this parasite and its human host. Multiple lines of evidence support a restriction of parasite growth by various hemoglobinopathies, and recent data suggest this phenomenon may result from host microRNA interference with parasite metabolism. Multiple hemoglobinopathies mitigate the pathogenic potential of parasites by interfering with the export of P. falciparum erythrocyte membrane protein 1 (PfEMP1) to the surface of the host red blood cell. Few studies have investigated their effects upon the activation of the innate and adaptive immune systems, although recent murine studies suggest a role for heme oxygenase-1 in protection. Ultimately, the identification of mechanisms of protection and pathogenesis can inform future therapeutics and preventive measures. Hemoglobinopathies slice the "Gordian knot" of host and parasite interactions to confer malaria protection, and offer a translational model to identify the most critical mechanisms of P. falciparum pathogenesis. PMCID: PMC3656091 Free PMC Article PMID: 23696730 [PubMed - in process] Related citations Icon for Public Library of ScienceIcon for PubMed Central 3. Value Health. 2013 May;16(3):A121. doi: 10.1016/j.jval.2013.03.579. Epub 2013 May 3. Expanding concepts of opioid-taking behavior in sickle cell disease: A multi-phase, mixed methods study. Alsalman AJ, Li Wong JK, Hassan NT, Smith WR. Virginia Commonwealth University, Richmond, VA, USA. PMID: 23693291 [PubMed - in process] Related citations 4. Pediatr Blood Cancer. 2013 May 15. doi: 10.1002/pbc.24588. [Epub ahead of print] Association Between Baseline Fetal Hemoglobin Levels and Incidence of Severe Vaso-Occlusive Pain Episodes in Children With Sickle Cell Anemia. Bhatnagar P, Keefer JR, Casella JF, Barron-Casella EA, Bean CJ, Hooper CW, Payne AB, Arking DE, Debaun MR. McKusick-Nathans Institute of Genetic Medicine, School of Medicine, Johns Hopkins University, Baltimore, Maryland. Abstract The ameliorating effect of high fetal hemoglobin (HbF) levels on the incidence of pain episodes in sickle cell anemia (SCA) is well-known; however, in children this relationship is less clearly established. We hypothesized that higher HbF levels in children with SCA are associated with fewer severe pain episodes. A meta-analysis of data from the Silent Infarct Transfusion Trial (n = 456) and the Cooperative Study of Sickle Cell Disease (n = 764), demonstrated that baseline HbF levels were associated with the incidence of severe pain, commonly defined across studies as an event requiring hospitalization (P-value = 0.02). Pediatr Blood Cancer © 2013 Wiley Periodicals, Inc. Copyright © 2013 Wiley Periodicals, Inc. PMID: 23677903 [PubMed - as supplied by publisher] Related citations 5. J Pediatr Hematol Oncol. 2013 May 9. [Epub ahead of print] Transcranial Doppler in Sickle Cell Disease. Sarkar N, Sharma VK. *Division of Neurology, National University Hospital †Yong Loo Lin School of Medicine National University of Singapore, Singapore. PMID: 23669727 [PubMed - as supplied by publisher] Related citations 6. Clin J Pain. 2013 May 9. [Epub ahead of print] Differences in Pain Management Between Hematologists and Hospitalists Caring for Patients With Sickle Cell Disease Hospitalized for Vasoocclusive Crisis. Shah N, Rollins M, Landi D, Shah R, Bae J, De Castro LM. *Department of Pediatric Hematology/Oncology †Division of Hematology ‡Department of Pediatrics §Division of Oncology ∥Department of Hospital Medicine, Duke University Medical Center, Durham, NC. Abstract OBJECTIVES:: Sickle cell disease (SCD) is a chronic disease characterized by multiple vaso-occlusive complications and is increasingly cared for by hospitalists. The purpose of this study is to examine differences in pain management between hematologists and hospitalists. METHODS:: We performed a single-institution, retrospective review of pain management patterns and outcomes in adult SCD patients hospitalized for vaso-occlusive crisis. RESULTS:: Over 26 months, we found a total of 298 patients (120 cared for by the hematologists and 178 by hospitalists), with a mean age of 32 (range 19-58). Patients cared for by hospitalists had a lower total number of hours on a patient controlled analgesia (PCA) device (171 vs. 212 hours, P=0.11). Hospitalists also were significantly more likely to utilize demand only PCA (42% vs. 23%, P=0.002) and had a significantly lower rate of using both continuous and demand PCA (54% vs. 67%, P=0.04). In addition, patients cared for by hospitalists had a significantly shorter hospitalization (8.4 days) compared to hematologists (10 days, P=0.04) with a non-significant difference in 7 and 30 day readmission rates (7.2% vs. 6.7% and 40% vs. 35% respectively). CONCLUSION:: We found patients cared for by hospitalists more frequently utilized home oral pain medication during admission, had shorter lengths of hospitalization, and did not have a significant increase in readmission rates. PMID: 23669451 [PubMed - as supplied by publisher] Related citations 7. Clin Pediatr (Phila). 2013 May 9. [Epub ahead of print] Incidence of Serious Bacterial Infections in Febrile Children With Sickle Cell Disease. Bansil NH, Kim TY, Tieu L, Barcega B. 1Loma Linda University, Loma Linda, CA, USA. Abstract Objective. To determine the incidence of serious bacterial infections in febrile children with sickle cell disease and to describe the outcomes of children discharged from the pediatric emergency department. Methods. We conducted a retrospective chart review of 188 febrile patients with sickle cell disease presenting to our pediatric emergency department over a 10-year period. Serious bacterial infection was defined as bacteremia, meningitis, urinary tract infection, osteomyelitis, or pneumonia. Results. Our overall incidence rate for serious bacterial infections was 16.0% (95% confidence interval [CI] = 10.8% to 21.2%). Pneumonia had the highest incidence rate of 13.8% (95% CI = 8.8% to 18.8%). This was followed by bacteremia and urinary tract infections, both with incidence rates of 1.1% (95% CI = 0.0% to 2.5%). We had no cases of meningitis or osteomyelitis in our study group. Conclusion. We had an incidence of 16.0% for serious bacterial infections in febrile children with sickle cell disease, with the majority of patients diagnosed with pneumonia. PMID: 23661790 [PubMed - as supplied by publisher] Related citations 8. Haematologica. 2013 May 3. [Epub ahead of print] A randomized, placebo-control trial of arginine therapy for the treatment ofchildren with sickle cell disease hospitalized with vaso-occlusive pain episodes. Morris CR, Kuypers FA, Lavrisha L, Ansari M, Sweeters N, Stewart M, Gildengorin G, Neumayr L, Sickle Cell News for April 2013 Anti-sickling therapies should be focus for sickle cell science http://www.eurekalert.org/pub_releases/2013-04/mcog-ats041713.php Pain is an undeniable focal point for patients with sickle cell disease but it's not the best focus for drug development, says one of the dying breed of physicians specializing in the condition. Rather scientists need to get back to the crux of the disease affecting 1 in 500 black Americans and find better ways to prevent the hallmark sickling that impedes red blood cells' oxygen delivery, damaging blood vessel walls and organs along the way, said Dr. Abdullah Kutlar, Director of the Sickle Cell Center at the Medical College of Georgia at Georgia Regents University. "We have one drug that reduces sickling and we need more," said Kutlar, the 2013 Roland B. Scott, M.D., Lecturer for the 7th Annual Sickle Cell Disease Research and Educational Symposium and National Sickle Cell Disease Scientific Meeting April 14-17 in Miami. "Pain is very important to someone who is suffering, but by using pain as an end point, we are missing opportunities and wasting drugs that could be very helpful," he said. "Moving forward, I suggest we develop new combination therapies that have anti-sickling capabilities at their center," said Kutlar, noting such cocktail approaches have worked well for cancer and HIV. Kutlar completed an extensive historical review of patient and study outcomes in preparation for the lecture honoring the late Howard University physician who made it his mission to improve the lives of children with sickle cell disease. Scott's contributions include prompting the National Sickle Cell Control Act of 1972, which established the first federally-funded comprehensive sickle cell centers, including the one at MCG led by Dr. Titus H.J. Huisman. No doubt Scott, Huisman and others have made a tremendous difference to patients, whose average life expectancy has gone from the teens to the 50s in the past 30 years, Kutlar said. Much of that progress grew out of focusing on the basics, including developing hydroxyurea, still the only Food and Drug Administration-approved drug that targets sickling. Approved 15 years ago, hydroxyurea works by increasing expression of fetal hemoglobin, which can't sickle. However, it's still not widely used – about 35 percent of Kutlar's adult patients take it, for example – probably for a combination of reasons that include a side effect of weight gain and unsubstantiated concerns that it increases cancer risk. He and his colleagues need to do a better job communicating the benefits of this drug in addition to finding new ones, Kutlar said. Reduced sickling means less damage to blood vessels and organs, he said, noting that the major cause of death in adults and children is acute chest syndrome, a severe pneumonia resulting from cumulative lung damage. A handful of new anti-sickling drugs are in various stages of development, including a thalidomide- derivative pioneered by MCG researchers that also enhances fetal hemoglobin expression. Other good endpoints for drug development include downstream effects of sickling, such as the unnatural adhesion of red blood cells to blood vessel walls, Kutlar said. Unfortunately work was recently halted on a drug that reduced adhesion but not pain, Kutlar said. Pain needs to be the primary endpoint only for pain medications, he noted. The good news is that many new pain medications are available for these patients, whose pain crises can be severe enough to require hospitalization and whose chronic pain can impair daily living. However, that circles back to the complex causes of pain. The pain initially likely results from tissues crying out for more oxygen and later from nerve and organ damage resulting from ongoing impaired oxygen supplies. Pain control can get even more complex and difficult because regular use of opiates, a common analgesic for sickle cell patients, actually increases pain sensitivity, Kutlar said. In addition to finding better therapies, physicians who treat sickle cell patients need to help cultivate the next generation of caregivers, Kutlar said. He's in the minority in that he opted to take care of patients with sickle cell disease rather than pursue the more common – and generally more professionally lucrative – hematology path: treating cancer. "We don't have enough hematologists, period," said Kutlar. The problem does have a good cause: the reality that more patients are living longer. However, the number of physicians to treat adult patients is dismal. Helping cultivate the next generation is a focus of a study led by Kutlar and Dr. Robert W. Gibson, a GRU occupational therapist and medical anthropologist. They are reaching out to primary care physicians – who also are in short supply in this country – as a permanent medical home for patients as they reach adulthood. Kutlar and Gibson are co-principal investigators on $7 million, five-year grant from the National Center on Minority Health and Health Disparities of the National Institutes of Health supporting this initiative as well as the search for new drugs and more. MCG physicians follow about 1,500 adults and children with sickle cell disease. Clinical Research Forum selects sickle cell project among 'Top 10' clinical research achievements of 2012http://www.news-medical.net/news/20130422/Clinical-Research-Forum-selects-sickle-cell-project-among-Top-10-clinical-research-achievements-of-2012.aspx Pioneering research led by Johns Hopkins scientists on the use of partially matched bone marrow transplants to wipe out sickle cell disease has been selected as one of the Top 10 Clinical Research Achievements of 2012 by the Clinical Research Forum. The success of a preliminary clinical trial of the so-called haploidentical transplants has the potential to bring curative transplants to a majority of sickle cell patients who need them, eliminating painful and debilitating symptoms and the need for a lifetime of pain medications and blood transfusions. On behalf of the research team, Robert A. Brodsky, M.D., the Johns Hopkins Family Professor of Medicine in Oncologyand director of the Division of Hematology at the Johns Hopkins University School of Medicine, will receive the award and an additional honor, the Distinguished Clinical Research Achievement Award, at a ceremony on April 18 during the Clinical Research Forum annual meeting in Washington, D.C. New Web article Sickle Cell Disease Review Advances in disease management and new treatment models help patients live longer. 1 contact hour of CEU for nurses: http://nursing.advanceweb.com/Continuing-Education/CE-Articles/Sickle-Cell-Disease.aspx New Video - Strategies to Improve Implementation of Hydroxyurea Dr. Courtney Thornburg, Duke Pediatric Sickle Cell Clinic mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDChydrea313.wmv SAVE THE DATES Fellow colleagues, you are invited to participate in the“Public Health Webinar Series on Hemoglobinopathies” Hosted by: The Division of Blood Disorders, CDC 4th Thursday of every month from 2:00PM – 3:00PM EST 5/23: Baby on Board: What You Need to Know about Pregnancy in the Hemoglobinopathies Dr. Sophie Lanzkron, Sickle Cell Center for Adults at Johns Hopkins Hospital 6/27: Beta-globin Haplotype Analysis in Children with Sickle Cell Anemia Dr. Christopher Bean, National Center on Birth Defects and Developmental Disabilities, CDC 7/25: Nurses’ Impact on the Stigmatization of Individuals with Sickle Cell: Challenges and Recommendations Dr. Coretta Jenerette, International Association of Sickle Cell Nurses and Physician Assistants 8/22: Mental Health and Learning Needs in children with Sickle Cell Disease Dr. Patricia Kavanagh, Boston University School of Medicine/Boston Medical Center 9/26: NHLBI Sickle Cell Disease Guidelines Dr. Joylene John-Sowah, National Heart Lung and Blood Institute, NIH 10/24: Current Data on Efficacy and Effectiveness of Hydroxyurea in Children with Sickle Cell Disease Dr. Winfred Wang, St. Jude Children’s Research Hospital November/December: --- No Webinars--- If you have ideas on topics for future webinars, or have any questions or comments about this series please submit them to Shae Pope spope@cdc.gov . The purpose of this webinar series is to offer a hemoglobinopathies learning collaborative platform for providers, consumers, educators, and scientists. CDC Web based Sickle Cell Resources CDC’s YouTube Link: http://www.youtube.com/watch?v=gnrvYsZWR1c&list=UUiMg06DjcUk5FRiM3g5sqoQ&index=2&feature=plpp_video CDC Video Archive (http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-health CDC Sickle Cell Disease Webpage: http://wwwdev.cdc.gov/NCBDDD/sicklecell/video.html Articles in the Medical Literature for April 1. J Pediatr Hematol Oncol. 2013 Apr 24. [Epub ahead of print] Cytochrome P450 2D6 Polymorphisms and Predicted Opioid Metabolism in African American Children With Sickle Cell Disease. Yee MM, Josephson C, Hill CE, Harrington R, Castillejo MI, Ramjit R, Osunkwo I. *Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta Departments of †Pediatrics, Hematology/Oncology ‡Pathology and Laboratory Medicine, Emory University §Emory University School of Medicine, Atlanta, GA. Abstract The opioid medications codeine and hydrocodone, commonly prescribed in sickle cell disease (SCD), require metabolic conversion by cytochrome P450 2D6 (CYP2D6) to morphine and hydromorphone, respectively, to exert their analgesic effects. The CYP2D6 gene is highly polymorphic, with variant alleles that result in decreased, absent, or ultrarapid enzyme activity. Seventy-five children with SCD were tested for CYP2D6 polymorphisms, and metabolic phenotypes were inferred from the genotypes. The most common variant alleles were CYP2D6*2 (normal activity, 28.7%), CYP2D6*17 (reduced activity, 17.3%), CYP2D6*5 (gene deletion, 8.7%), and CYP2D6*4 (absent function, 8.0%). Normal/extensive metabolizer genotypes were found in 28/75 (37.5%), intermediate metabolism in 33/75 (44.0%), poor metabolism in 4/75 (5.3%), ultrarapid metabolism in 3/75 (4.0%), indeterminate in 6/75 (8.0%). Allele frequencies did not vary significantly among different hemoglobin genotypes. Identification of variant CYP2D6 genotypes may identify individuals with altered metabolism and therefore altered analgesic response to codeine and hydrocodone, thus providing a personalized medicine approach to treatment of pain in SCD. Further pharmacokinetic and pharmacodynamic studies are needed to define the relationship of CYP2D6 and other gene polymorphisms to individual opioid effect in SCD. PMID: 23619115 [PubMed - as supplied by publisher] Related citations 2. J Pediatr Hematol Oncol. 2013 Apr 24. [Epub ahead of print] Hyperhemolysis in Sickle Cell Disease. Aragona E, Kelly MJ. *Division of Hospitalist Medicine, Children's National Medical Center, The George Washington University School of Medicine and Health Sciences, Washington, DC †Division of Pediatric Hematology Oncology, The Floating Hospital for Children at Tufts Medical Center, Tufts University School of Medicine, Boston, MA. Abstract An 18-year-old female with sickle cell disease presented with thigh pain, dark urine, and hematuria within 72 hours of receiving a blood transfusion. Her clinical picture was consistent with hemolysis. Subsequent laboratory workup, however, demonstrated reticulocytopenia without evidence of an antibody-mediated transfusion reaction. As her hemoglobin continued to decrease, she was treated with IVIG and steroids for presumed hyperhemolysis. Clinicians should have a high index of suspicion for hyperhemolysis in sickle cell patients with evidence of hemolysis after a recent transfusion. Differentiating hyperhemolysis from other hemolytic syndromes is critical; transfusions in a hyperhemolytic episode can accelerate hemolysis causing life-threatening anemia. PMID: 23619113 [PubMed - as supplied by publisher] Related citations 3. J Pediatr Hematol Oncol. 2013 May;35(4):289-298. Barriers to Hematopoietic Cell Transplantation Clinical Trial Participation of African American and Black Youth With Sickle Cell Disease and Their Parents. Omondi NA, Ferguson SE, Majhail NS, Denzen EM, Buchanan GR, Haight AE,Labotka RJ, Rizzo JD, Murphy EA. *National Marrow Donor Program †Center for International Blood and Marrow Transplant Research and University of Minnesota, Minneapolis, MN ‡The University of Texas Southwestern Medical Center, Children's Medical Center, Dallas, TX §Children's Healthcare of Atlanta, Emory University School of Medicine, Atlanta, GA ∥Chicago Sickle Cell Center, University of Illinois, Chicago, IL ¶Center for International Blood and Marrow Transplant Research, Medical College of Wisconsin Clinical Cancer Center, Milwaukee, WI. Abstract African Americans and Blacks have low participation rates in clinical trials and reduced access to aggressive medical therapies. Hematopoietic cell transplantation (HCT) is a high-risk but potentially curative therapy for sickle cell disease (SCD), a disorder predominantly seen in African Americans. We conducted focus groups to better understand participation barriers to HCT clinical trials for SCD. Nine focus groups of youth with SCD (n=10) and parents (n=41) were conducted at 3 sites representing the Midwest, South Atlantic, and West South Central US. Main barriers to clinical trial participation included gaps in knowledge about SCD, limited access to SCD/HCT trial information, and mistrust of medical professionals. For education about SCD/HCT trials, participants highly preferred one-on-one interactions with medical professionals and electronic media as a supplement. Providers can engage with sickle cell camps to provide information on SCD/HCT clinical trials to youth and local health fairs for parents/families. Youth reported learning about SCD through computer games; investigators may find this medium useful for clinical trial/HCT education. African Americans affected by SCD face unique barriers to clinical trial participation and have unmet HCT clinical studies education needs. Greater recognition of these barriers will allow targeted interventions in this community to increase their access to HCT. PMID: 23612380 [PubMed - as supplied by publisher] Related citations Icon for Lippincott Williams & Wilkins 4. J Pediatr Hematol Oncol. 2013 May;35(4):329-30. doi: 10.1097/MPH.0b013e318290c5f3. Sickle Cell-related Bone Marrow Complications: The Utility of Diffusion-weighted Magnetic Resonance Imaging. Pratesi A, Medici A, Bresci R, Micheli A, Barni S, Pratesi C. Misericordia e Dolce Hospital, Prato, Tuscany, Italy. Abstract In sickle cell disease diffusion-weighted imaging (DWI) are helpful, costeffective, and promising techniques for differentiating bone marrow involvements. So we suggest to consider a MR diffusion panoramic study (whole-body diffusion MR) when multiple follow-up imaging is required in young patients who are at high risk for chronic radiation damage, so that alternatives to PET study may be taken into consideration. PMID: 23612384 [PubMed - in process] Related citations Icon for Lippincott Williams & Wilkins 5. Eur Cytokine Netw. 2013 Apr 19. [Epub ahead of print] Altered levels of pro-inflammatory cytokines in sickle cell disease patients during vaso-occlusive crises and the steady state condition. Keikhaei B, Mohseni AR, Norouzirad R, Alinejadi M, Ghanbari S, Shiravi F, Solgi G. Thalassemia & Hemoglobinopathy research center, Ahvaz Joundishapur University of Medical Science, Ahvaz, Iran. Abstract Objective: This study aimed to evaluate serum levels of pro-inflammatory cytokines and TGF-β in sickle cell disease (SCD) patients, and to compare the results during vaso-occlusive crisis (VOC) or steady state (StSt) conditions. Methods: 54 SCD patients (37HbSS and 17Sβ+Thal) were enrolled in the study and evaluated in two groups as follows; group A consisted of 39 VOC patients and group B comprised 15 StSt patients. Nineteen healthy volunteers were included as controls. Circulating levels of IL-1, IL-6, IL-8, IL-17,TNF-α and TGF-β were measured using ELISA. Results: Patients in VOC showed higher mean levels of all cytokines than those found in steady-state patients, but this was only marginally significant for IL-8 levels (P = 0.08). Increased levels of TGF-β and IL-17 were found in StSt patients versus normal controls (P = 0.004 and P<0.0001 respectively). A positive correlation was observed between IL-8 and IL-17 in both groups of patients (P = 0.002 and P = 0.005 respectively). Decreased levels of TNF-α, IL-1β and IL-17 were found in hydroxyurea-treated patients. Additionally, significantly higher levels of IL-6 and IL-8 were observed in hydroxyurea-treated and untreated patients than in controls respectively (P = 0.04 and P = 0.01). Conclusions: Our findings indicate that pro-inflammatory cytokines, especially IL-8 and IL-17, could be used as related markers for assessing disease severity, and consequently therapeutic intervention. PMID: 23608554 [PubMed - as supplied by publisher] Related citations Icon for John Libbey Eurotext 6. Am J Hematol. 2013 Apr 20. doi: 10.1002/ajh.23457. [Epub ahead of print] Genetic modifiers of sickle cell anemia in the BABY HUG cohort: Influence on laboratory and clinical phenotypes. Sheehan VA, Luo Z, Flanagan JM, Howard TA, Thompson BW, Wang WC, Kutlar A, Ware RE; BABY HUG Investigators. Hematology Center, Department of Pediatrics, Baylor College of Medicine, Houston, TX. Abstract The recently completed BABY HUG trial investigated the safety and efficacy of hydroxyurea in infants with sickle cell anemia (SCA). To investigate the effects of known genetic modifiers, genomic DNA on 190 randomized subjects was analyzed for alpha thalassemia, beta-globin haplotype, polymorphisms affecting endogenous fetal hemoglobin (HbF) levels (XmnI, BCL11A, and HBS1L-MYB), UGT1A1 promoter polymorphisms, and the common G6PD A- mutation. At study entry, infants with alpha thalassemia trait had significantly lower MCV, total bilirubin, and absolute reticulocyte count. Beta-globin haplotypes associated with milder disease had significantly higher hemoglobin and %HbF. BCL11A and XmnI polymorphisms had significant effects on baseline HbF, while UGT1A1 promoter polymorphisms significantly influenced baseline serum bilirubin. At study exit, subjects randomized to placebo still exhibited laboratory effects of alpha thalassemia and other modifiers, while those assigned hydroxyurea had treatment effects that exceeded most genetic influences. The pain phenotype was influenced by HbF modifiers in both treatment groups. These data document that genetic polymorphisms do modify laboratory and clinical phenotypes even in very young patients with SCA. The hydroxyurea effects are more potent, however, indicating that treatment criteria should not be limited to certain genetic subsets, and supporting the use of hydroxyurea for all young patients with SCA. Copyright © 2013 Wiley Periodicals, Inc., A Wiley Company. PMID: 23606168 [PubMed - as supplied by publisher] Related citations News for March 2013 New Treatment for Sickle Cell Brings Hope and a Cure to Chicago Area Patients Source Newsroom: University of Illinois at Chicago Newswise — Two brothers have been cured of their sickle cell disease at the University of Illinois Hospital & Health Sciences System using a relatively uncommon type of stem cell transplant that is performed without chemotherapy. Their transplants were possible thanks to a third brother who was a match for both, against long odds. Julius and Desmond Means never imagined life without sickle cell. The brothers, ages 25 and 19, have spent their lives in and out of hospitals, each suffering from different complications of the disease. Growing up, they tired easily and couldn't keep up with their friends. As they grew older, the disease caused bone damage and affected Julius's lungs. Desmond's organs were also being damaged, and he was jaundiced. For either young man to receive a transplant, a healthy sibling who is a compatible donor was needed. An acceptable match requires that at least eight of 10 known human leukocyte antigen (H.L.A.) genes be identical between donor and recipient. Julius and Desmond's healthy older brother Clifford, 27, matched 10 of 10 H.L.A. genes with both of them -- an occurrence of "extremely low" likelihood, according to Dr. Damiano Rondelli, director of stem-cell transplantation at UI Health. The men's mother, Beverly Means, also noted the good fortune. "I had won the lottery of health," she said. In preparation for the transplant, Clifford was given medication to increase the number of stems cells released from the bone marrow into the bloodstream. His blood was then processed through a machine that collects white cells, including stem cells. The stem cells were frozen until the transplants. Last May, Julius received his transplant at UI Hospital. He was given medication to suppress his immune system and one small dose of total body radiation right before the transplant. Then the frozen bags of stem cells were thawed and hung by IV pole for infusion into him. Then in September, Desmond received his stem cell transplant. Now several months since the transplants, both Julius and Desmond no longer have sickle cell disease. Their bone marrow is producing healthy red blood cells. "Being cured, I feel like we can do anything," says Julius, who composed a rap about his transplant while recovering in the hospital. The brothers are pursuing their interests in rap music and dance and plan to attend college. The chemotherapy-free stem cell transplant is a new procedure and is much better-tolerated by patients with aggressive sickle cell disease, who often have underlying organ damage and other complications. UI Health is the first center in the Chicago area to offer this treatment, and one other patient has been successfully transplanted here. The efficacy and safety of the pre-transplant medication regimen are currently being studied at UI Health. About 30 adults have received chemotherapy-free stem cell transplants for sickle cell disease at the National Institutes of Health in Bethesda, Md. Approximately 85 percent have been cured. NSIGHT: Cyclists for sickle cell unite in Dar es Salaam Tanzania http://thecitizen.co.tz/business/-/29878-insight-cyclists-for-sickle-cell-unite-in-dar-es-salaam In one of the biggest cycling charity events the city has yet seen, around 400 people, of an astonishing range of ages and physical abilities, donned orange reflector vests emblazoned with ‘Cycle for Sickle Cell’, to join the event to raise funds for a new Sickle Cell Centre at Muhimbili National Hospital, (MNH) and awareness into a disease that is one of the biggest causes of childhood mortality in Tanzania. Sickle cell disease is an inherited blood disorder that causes significant illness and death and Tanzania’s burden of the disease ranks fourth in the world, with the highest number of SCD births a year (up to 11,000), after Nigeria, India and Democratic Republic of Congo. If untreated, up to 90 per cent of these children will die in childhood. One of the main challenges is that awareness of this inherited disease is considerably low in Tanzania. Many children go undiagnosed and lives are lost. Research scientists, doctors and other healthcare workers are working hard, hand in hand, to change this. The Government of Tanzania has recognized the public health burden of sickle cell disease and dedicated sickle cell services have been provided at Muhimbili National Hospital since the 1980s. In 2004, a systematic framework for comprehensive healthcare was established at Muhimbili (http://www.muhas.ac.tz and http://www.mnh.or.tz/), which is the main clinical, academic and research centre in the country. In 2009, the ministry of Health and Social Welfare included sickle cell disease as a priority condition in the national strategy for non-communicable diseases and Tanzania intends to introduce new-born screening and strengthen sickle cell services in health facilities at primary, secondary and tertiary level. In order to develop a platform for advocacy, the Sickle Cell Foundation of Tanzania was launched in 2010. Tanzania has established a biomedical research programme in SCD to find interventions that are locally appropriate and have global significance. With local and global partnerships, it has developed a systematic framework for comprehensive research with prospective surveillance of over 2,500 SCD patients. Tech update – Novartis develops two Smartphone apps for Android and iPhone The Sickle Cell Disease Resource Locator uses your location to connect you with health resources relevant to sickle cell disease and a Sickle Cell Disease Tracker to help with iron overload. New Video 2/28: Disparities in Sickle Cell Disease Care: Disentangling the Roles of Race, Place, and Disease State Dr. Carlton Haywood Jr., Johns Hopkins University mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDChaywood.wmv SAVE THE DATES Fellow colleagues, you are invited to participate in the“Public Health Webinar Series on Hemoglobinopathies” Hosted by: The Division of Blood Disorders, CDC 4th Thursday of every month from 2:00PM – 3:00PM EST 3/28: Strategies to Improve Implementation of Hydroxyurea Dr. Courtney Thornburg, Duke Pediatric Sickle Cell Clinic 4/25: Building Behavioral and Social Science Databases for the Hemoglobinopathies: Lessons from the Study of Thalassemia Dr. Robert Yamashita, California State University San Marcos 5/23: Baby on Board: What You Need to Know about Pregnancy in the Hemoglobinopathies Dr. Sophie Lanzkron, Sickle Cell Center for Adults at Johns Hopkins Hospital 6/27: Beta-globin Haplotype Analysis in Children with Sickle Cell Anemia Dr. Christopher Bean, National Center on Birth Defects and Developmental Disabilities, CDC 7/25: Nurses’ Impact on the Stigmatization of Individuals with Sickle Cell: Challenges and Recommendations Dr. Coretta Jenerette, International Association of Sickle Cell Nurses and Physician Assistants 8/22: Mental Health and Learning Needs in children with Sickle Cell Disease Dr. Patricia Kavanagh, Boston University School of Medicine/Boston Medical Center 9/26: NHLBI Sickle Cell Disease Guidelines Dr. Joylene John-Sowah, National Heart Lung and Blood Institute, NIH 10/24: Current Data on Efficacy and Effectiveness of Hydroxyurea in Children with Sickle Cell Disease Dr. Winfred Wang, St. Jude Children’s Research Hospital November/December: --- No Webinars--- If you have ideas on topics for future webinars, or have any questions or comments about this series please submit them to Shae Pope spope@cdc.gov . The purpose of this webinar series is to offer a hemoglobinopathies learning collaborative platform for providers, consumers, educators, and scientists. CDC Web based Sickle Cell Resources CDC’s YouTube Link: http://www.youtube.com/watch?v=gnrvYsZWR1c&list=UUiMg06DjcUk5FRiM3g5sqoQ&index=2&feature=plpp_video CDC Video Archive (http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-health CDC Sickle Cell Disease Webpage: http://wwwdev.cdc.gov/NCBDDD/sicklecell/video.html Articles in the Medical Literature for March 1. J Pediatr Hematol Oncol. 2013 Apr;35(3):165-9. doi: 10.1097/MPH.0b013e3182847483. Systematic review of transition from adolescent to adult care in patients with sickle cell disease. Jordan L, Swerdlow P, Coates TD. *The Sickle Cell Disease Association of America Inc., Baltimore, MD †Department of Epidemiology and Public Health, University of Miami, Miller School of Medicine, Miami, FL ‡Barbara Ann Karmanos Cancer Institute, Wayne State University, Detroit, MI §Children's Hospital Los Angeles, Los Angeles, CA. Abstract Awareness and practice of appropriate treatment for childhood sickle cell disease (SCD) has improved, and survival rates have increased significantly. Today, most patients will eventually require treatment in the adult-care setting. Adolescents who are transferred out from successful pediatric programs face numerous challenges regarding continuity of care, and mortality rates remain high in this age group. Here, we describe a systematic literature review conducted to examine the barriers to and approaches for successful transition of patients with SCD from adolescent to adult care. Articles were primarily located through the US National Library of Medicine (Pubmed.gov) and were omitted if their principal focus was not SCD transition treatment. A secondary search of 5 additional sources was conducted regarding relevant guidelines or meta-analyses. Current publications describe barriers to continuity of care in this group, proposals for improving the transition process, and contemporary models for SCD care transition. Clinical recommendations include development of a flexible, patient-centric transition plan and education for health care providers. PMID: 23511487 [PubMed - in process] Related citations 2. Pediatr Blood Cancer. 2013 Mar 18. doi: 10.1002/pbc.24473. [Epub ahead of print] Stroke with intracranial stenosis is associated with increased platelet activation in sickle cell anemia. Majumdar S, Webb S, Norcross E, Mannam V, Ahmad N, Lirette S, Iyer R. Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi. smajumdar@umc.edu. Abstract BACKGROUND: Overt stroke in sickle cell anemia (SCA) is associated with intracranial stenosis and thrombus formation. Platelet activation is critical for thrombus formation. PROCEDURE: Platelet activation studies were performed in 50 subjects: 18 SCA patients with history of stroke or abnormal transcranial Doppler (TCD) and intracranial stenosis seen by magnetic resonance angiogram (MRA), 7 SCA patients with history of stroke or abnormal TCD but no intracranial stenosis, 13 SCA patients with no history of stroke or abnormal TCD, and 12 healthy African-Americans. RESULTS: Of the 18 patients with intracranial stenosis, 11 (61%) had evidence of the moyo-moya phenomenon on MRA. SCA children with intracranial stenosis had a significantly greater total white cell count compared to both healthy African-American controls and SCA patients in the steady-state (P < 0.001). In addition, SCA patients with history of stroke or abnormal TCD had a significantly higher platelet count compared to healthy African-American controls (P < 0.002). The percentage of platelet surface P-selectin expression was significantly greater in patients with intracranial stenosis compared to the other groups (P < 0.05), particularly in individuals that did not have the moya-moya phenomenon seen on MRA. CONCLUSION: Stroke with intracranial stenosis is associated with increased platelet activation in sickle cell anemia, and further investigation is needed on the role of anti-platelet agents in this high-risk population. Pediatr Blood Cancer © 2013 Wiley Periodicals, Inc. Copyright © 2013 Wiley Periodicals, Inc. PMID: 23509099 [PubMed - as supplied by publisher] Related citations 3. Pediatr Blood Cancer. 2013 Mar 18. doi: 10.1002/pbc.24530. [Epub ahead of print] Alloimmunization in Sickle Cell Anemia in the Era of Extended Red Cell Typing. O'Suoji C, Liem RI, Mack AK, Kingsberry P, Ramsey G, Thompson AA. Division of Hematology, Oncology and Stem Cell Transplant, Ann and Robert H. Lurie Children's Hospital of Chicago, Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois. Abstract BACKGROUND: Red blood cell (RBC) transfusion remains an essential part of the management of patients with sickle cell disease (SCD). Alloimmunization is a major complication of transfusions. Extended RBC typing is advocated as a means to reduce alloimmunization in SCD. Our goal was to assess alloimmunization among individuals with SCD at our center since implementing extended RBC typing. MATERIALS AND METHODS: We reviewed electronic medical records of all patients with SCD (N = 641) in our comprehensive SCD Program to determine transfusion histories. Cross-referencing with our blood bank database, we extracted data such as antibodies identified, detection date and genotyping in specific cases. Transfusion sources were determined for those with C, E, and Kell antibodies. RESULTS: Of 180 patients transfused from 2002 to 2011, 26 developed at least one new antibody. The majority of alloimmunized patients (14/26) received episodic transfusions only. The most common antibodies formed were against C and E antigens. Of the 16 patients who developed C, E, Kell antibodies, nine had one or more documented transfusions at an outside hospital. Five patients had Rh variants undetectable on routine phenotyping including two novel e alleles related to ceAR and ceS (733G). CONCLUSION: Despite extended RBC typing, alloimmunization may still occur due to RBC variants that are not detected on routine screening and transfusions at institutions where extended RBC typing is not done. Extended RBC typing should be the standard of care for patients with SCD. Prospective genotyping may reduce allosensitization to rare variants not detected on routine screening. Pediatr Blood Cancer 2013;9999:XX-XX. © 2013 Wiley Periodicals, Inc. Copyright © 2013 Wiley Periodicals, Inc. PMID: 23508932 [PubMed - as supplied by publisher] Related citations 4. Eur J Haematol. 2013 Mar 14. doi: 10.1111/ejh.12103. [Epub ahead of print] Optimizing Hydroxyurea Use In Children With Sickle Cell Disease: Low Regimen Dose Is Effective. Sharef SW, Al-Hajri M, Beshlawi I, Al-Shahrabally A, Elshinawy M, Zachariah M,Mevada ST, Bashir W, Rawas A, Taqi A, Al-Lamki Z, Wali Y. Departments of Child Health, Sultan Qaboos University Hospital, Oman. Abstract BACKGROUND AND OBJECTIVES: Hydroxyurea (HU) is the standard treatment for severely affected children with sickle cell disease (SCD). Starting dose is 15-20 mg/kg/day that can be escalated up to 35 mg/kg/day. Ethnic neutropenia is common in this area of the world that requires judicious usage of myelosuppressive drugs. Aim was to assess the efficacy of a lower initial dose of HU and cautious dose escalation regimen in patients with SCD. METHODS: We assessed 161 patients with SCD on HU, at Sultan Qaboos University Hospital (SQUH), Muscat, Oman, retrospectively from 1998-2008 and prospectively from 2009-2011. Starting dose of HU was 10-12 mg/kg/day, adjusted based on response or side-effects. Patients were divided into two groups according to the dose of HU (10-15.9 mg/kg/day, and 16-26 mg/kg/day). RESULTS: Nineteen patients were excluded for various reasons. Forty four children were in the low dose group, and 98 were in the high dose group. There was significant reduction in the annual number of admissions due to vaso-occlusive crisis in both groups (P <0.001). However, the difference between the two groups was statistically insignificant (P > 0.05). In addition, there was an observed clinical improvement regarding the acute chest syndrome (ACS). Both groups had comparable significant improvements in their laboratory markers (e.g.; Hb, MCV, and ANC). All 142 patients tolerated the treatment well. Reversible toxicities occurred in both low and high dose groups. CONCLUSION: In SCD patients, low dose regimen of HU is a feasible option that ensured safety and yet did not affect efficacy. © 2013 John Wiley & Sons A/S. © 2013 John Wiley & Sons A/S. PMID: 23489171 [PubMed - as supplied by publisher] Related citations 5. Platelets. 2013 Mar 7. [Epub ahead of print] Platelet Activation and Inhibition iN Sickle cell disease (PAINS) study. Frelinger AL 3rd, Jakubowski JA, Brooks JK, Carmichael SL, Berny-Lang MA, Barnard MR, Heeney MM, Michelson AD. Center for Platelet Research Studies, Division of Hematology/Oncology, Boston Children's Hospital, Dana-Farber Cancer Institute, Harvard Medical School , Boston, MA , USA. Abstract Platelet activation/aggregation in sickle cell disease (SCD) may promote tissue ischemia, suggesting that antiplatelet therapy may be useful. However, the assessment of platelet function and the effect of antiplatelet therapy in blood from SCD patients may be confounded by hemolysis with the release of adenosine 5'-diphosphate (ADP). Here we evaluate the levels of platelet activation markers in SCD adolescents vs. normal controls and compare, by multiple methods, the effect of in vitro blockade of the platelet ADP receptor P2Y12 by prasugrel's active metabolite, R-138727. Platelet activation markers in blood from SCD adolescents (n = 15) and healthy adults (n = 10), and the effect of R-138727 (0.1-10 µM) added in vitro, were evaluated with and without ADP stimulation. The circulating levels of platelet-monocyte and platelet-neutrophil aggregates were significantly higher (p < 0.01) in SCD patients than in healthy controls. R-138727, in a concentration-dependent manner, inhibited platelet function in both SCD patients and healthy subjects as judged by ADP-stimulated light transmission aggregation, VerifyNow® P2Y12 assay, multiple electrode aggregometry, and flow cytometric analysis of platelet vasodilator-stimulated phosphoprotein, activated GPIIb-IIIa and P-selectin. The R-138727 IC50s for each assay were not significantly different in SCD vs. healthy subjects. In summary: (1) The high circulating levels of platelet-monocyte and platelet-neutrophil aggregates demonstrate in vivo platelet activation in SCD and may be useful as markers of the in vivo pharmacodynamic efficacy of antiplatelet therapy in SCD. (2) The similar in vitro R-138727 IC50s in SCD and healthy subjects suggest that the prasugrel dose-dependence for platelet inhibition in SCD patients will be similar to that previously observed in healthy subjects. PMID: 23469943 [PubMed - as supplied by publisher] Related citations 6. Pediatrics. 2013 Mar 4. [Epub ahead of print] Weight Status of Children With Sickle Cell Disease. Chawla A, Sprinz PG, Welch J, Heeney M, Usmani N, Pashankar F, Kavanagh P. Hasbro Children's Hospital, Providence, Rhode Island; Abstract OBJECTIVE:Historically, many children and adolescents with sickle cell disease (SCD) were underweight. Treatment advances like hydroxyurea have been associated with improved growth. We hypothesized that increased hemoglobin (Hb) levels would be associated with increased weight status of children with SCD.METHODS:Investigators at 6 institutions conducted a retrospective chart review of all patients aged 2 to 19 years of age for the calendar years 2007-2009. Height, weight, baseline Hb levels, demographic information, and select comorbidities were recorded from the most recent clinic visit. Overweight and obesity were defined as ≥85th and ≥95th BMI percentiles for age and gender, respectively, and underweight was defined as <5th BMI percentile.RESULTS:Data were collected on 675 children and adolescents in 3 New England states. In this sample, 22.4% were overweight or obese, whereas only 6.7% were underweight. Overweight or obese status was associated with sickle genotypes other than Hb SS or Hb Sβ0 disease, and were associated with higher baseline Hb levels. Underweight individuals were more likely to be male, older, and have had at least 1 SCD-related complication. After adjusting for demographic factors, any SCD-related complication, SCD-directed treatments, and obesity-related conditions, there was a 36% increased odds of overweight/obesity for each 1 g/dL increase in baseline Hb levels.CONCLUSIONS:Nearly one-quarter of children and adolescents with SCD in New England are overweight or obese. Longitudinal studies are needed to determine the impact of elevated BMI on the morbidity and mortality of both children and adults with SCD. PMID: 23460681 [PubMed - as supplied by publisher] Related citations 7. Pain Res Manag. 2013 Jan-Feb;18(1):33-8. Daily changes in pain, mood and physical function in children hospitalized for sickle cell disease pain. Zempsky WT, Palermo TM, Corsi JM, Lewandowski AS, Zhou C, Casella JF. Connecticut Children's Medical Center, Hartford, Connecticut 06106, USA.wzempsk@ccmckids.org Abstract BACKGROUND: Youth with sickle cell disease (SCD) are commonly hospitalized for treatment of painful vaso-occlusive episodes (VOE). However, limited data are available concerning the course of hospitalization for these children and adolescents and, in particular, whether daily changes occur in pain, emotional status and physical function. OBJECTIVES: To characterize changes in daily pain intensity, physical function and mood over the course of hospitalization, and to determine whether specific clinical characteristics were associated with these changes. METHODS: Daily ratings of pain (0 to 10 numerical rating scale) and mood (Positive and Negative Affect Scale for Children) were completed by 25 youth (11 to 20 years of age) with SCD over a total of 152 days (mean [± SD] = 6.7±5.6 days) of hospitalization. Trained raters determined each youth's daily physical function. RESULTS: Sickle Cell News for February 2013 Could an old antidepressant treat sickle cell disease? Tests in mice & human blood cells look promisinghttp://www.eurekalert.org/pub_releases/2013-02/uomh-cao021913.php An antidepressant drug used since the 1960s may also hold promise for treating sickle cell disease, according to a surprising new finding made in mice and human red blood cells by a team from the University of Michigan Medical School. The discovery that tranylcypromine, or TCP, can essentially reverse the effects of sickle cell disease was made by U-M scientists who have spent more than three decades studying the basic biology of the condition, with funding from the National Institutes of Health. Their findings, published in Nature Medicine, pave the way for a clinical trial now being planned for adult patients who have the life-threatening condition. The discovery may also lead to other treatments for the disease, which leads misshapen red blood cells to cause vascular damage and premature death. But the researchers caution it is too soon for the drug to be used in routine treatment of sickle cell anemia, an inherited genetic disease that affects tens of thousands of Americans and millions of others worldwide. The climax of a decade of discovery In the new paper, the researchers describe a painstaking effort to test TCP's effect on the body's production of a particular form of hemoglobin – the key protein that allows red blood cells to carry oxygen. The drug acts on a molecule inside red blood cells called LSD1, which is involved in blocking the production of the fetal form of hemoglobin. The U-M team zeroed in on the importance of LSD1 as a drug target after many years of research. Then, they literally did a Google search to find drugs that act on LSD1. That's how they found TCP, which since 1960 has been used to treat severe depression. In the new paper, they describe how TCP blocked LSD1 and boosted the production of fetal hemoglobin -- offsetting the devastating impact of the abnormal "adult" form of hemoglobin that sickle cell patients make. "This is the first time that fetal hemoglobin synthesis was re-activated both in human blood cells and in mice to such a high level using a drug, and it demonstrates that once you understand the basic biological mechanism underlying a disease, you can develop drugs to treat it," says Doug Engel, Ph.D., senior author of the study and chair of U-M's Department of Cell & Developmental Biology. "This grew out of an effort to discover the details of how hemoglobin is made during development, not with an immediate focus on curing sickle cell anemia, but just toward understanding it." Engel credits the dedication and persistence of his team, including a former research assistant professor, Osamu Tanabe, M.D., Ph.D., now at Japan's Tohoku University, U-M postdoctoral fellow, Lihong Shi, Ph.D., first author of the study, and research instructor Shuaiying Cui, Ph.D.. Together, they have identified LSD1's crucial role, and its epigenetic interaction with two nuclear receptors in the nuclei of red blood cell precursors called TR2 and TR4. Working in tandem, they repress the expression of the gene that makes fetal hemoglobin – an effect called gene silencing. So, interfering with this repression allows the fetal hemoglobin subunits to be made. Treatment with TCP caused fetal hemoglobin to be produced at such high abundance that it made up 30 percent of all hemoglobin in cultured human blood cells – a finding Engel called "startling." TCP is FDA-approved, though patients taking it need to follow strict dietary guidelines to avoid drug interactions with certain naturally occurring chemicals in some foods. Reference: Nature Medicine, http://dx.doi.org/10.1038/nm.3101 NFL Twins to Tackle Sickle Cell Diseasehttp://newbrunswick.patch.com/articles/nfl-twins-to-tackle-sickle-cell-disease NFL defensive backs and twin brothers Jason McCourty of the Tennessee Titans and Devin McCourty of the New England Patriots will visit Robert Wood Johnson University Hospital on Saturday, Feb. 23 for a campaign against sickle cell disease. The McCourtys, along with the Embrace Kids Foundation, Robert Wood Johnson University Hospital, and the New York Blood Center are working together on the “Tackle Sickle Cell” campaign, which intends to educate and raise monetary and blood donors to fight against the disease. Anyone who registers through TackleSickleCell.org and donates will receive a $10 restaurant gift card, and will be entered in a drawing for a signed football helmet and a $100 restaurant gift card, according to the hospital. For more information, visit TackleSickleCell.org or Facebook.com/TackleSickleCell. Treatment of sickle cell disease largely involves long-term disease management.http://myfox8.com/2013/02/22/house-call-sickle-cell-disease-adult-disease-management/ Proper lifestyle modifications are essential to avoiding sickle cell disease-related symptomatic episodes and health conditions, which involve maintaining a well-balanced diet, avoiding smoking and alcohol consumption, limiting caffeine intake, and staying hydrated. Long-term sickle cell disease management also involves proper dental, foot, eye and skin/wound care. Sickle news from Tanzania. Sickle Cell Disease: What can Africa contribute? 13 February 2013. http://videocast.nih.gov/Summary.asp?File=17804&bhcp=1 part of NIH Wednesday Afternoon Lecture Series. http://wals.od.nih.gov/ Improving Sickle Cell Disease Care Beyond the Clinic From text reminders to self-monitoring pill bottles, healthcare providers in the Working to Improve Sickle Cell Healthcare (WISCH) project using technology to improve care for patients with sickle cell disease when they leave the doctor’s office. http://www.nichq.org/resources/SickleCellTech-Feb2013.html Books Telfair, J. and Crosby, L. (2013) Disparities in the delivery of health care and pain management for persons with sickle cell disease. In Incayawar, M and Todd, K (EDs) CULTURE, BRAIN AND ANALGESIA: Understanding and Managing Pain in Diverse Populations New York, NY: Oxford University Press (Chapter 17), 198-204. Sickle Cell Art by Hertz Nazaire World famous sickle cell artist Hertz Nazaire is selling his art to raise sickle cell awareness. Much of his work goes unpaid, but he needs support also: “I don't mind not getting paid for my work as long as it helps others understand our pain but I don't think the community knows how hard my life has been while these images have been on slides and spread out all over the world.” “I only sold 20 items in 6 years online mostly the postage stamps that canvas is new, just created this week. I turn 40 years old this year my pain is still very annoying but I am glad that my art has been loved by so many. Thank You for your support” His latest work, avery large wrapped canvas print ready to hang for an office is available at: http://www.zazzle.com/need_not_suffer_alone_sickle_cell_art_canvas_g-192431769758790410?gl=nazaire&rf=238198779154864644 Hertz online store address is http://www.zazzle.com/nazaire Happy birthday Hertz and many more Video Resources # 505 LIVING WITH ILLNESS ( with Discussion Guide) In the Mix is the Emmy award winning PBS series for young adults. One program addresses sickle cell anemia and is available as an educational DVD. A special discount of $20 off the usual $70 can be received by using the code 20Off and listing that on the P.O. For more information and a transcript, visit www.inthemix.org This program addresses the most critical issues and problems concerning school, friends and family that challenge young people who are coping with serious and/or chronic conditions. Teens speak frankly from their experiences, sharing their concerns and advice with insight and humor. A boy describes his ways of dealing with Crohn’s; a girl copes with Juvenile Diabetes; and several teens who are living with sickle cell anemia describe their conditions and dispel misconceptions. They all stress that they want to be treated as normal teenagers.Young Adult Library Services Association “Selected Videos” list. Winner of the CINE Golden Eagle Award “The well-spoken adolescents, who represent a variety of backgrounds, openly share their experiences and discuss the impact of their afflictions on their lives. Including information on treatments and side effects, this video takes an honest and insightful look at a topic not often discussed among teens.” – Booklist New Video Posted Managing and Monitoring Transfusional Iron Overload by Dr. Thomas Coates on 1/25/13 mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDCironCoates.wmv SAVE THE DATES Fellow colleagues, you are invited to participate in the“Public Health Webinar Series on Hemoglobinopathies” Hosted by: The Division of Blood Disorders, CDC 4th Thursday of every month from 2:00PM – 3:00PM EST 2/28: Disparities in Sickle Cell Disease Care: Disentangling the Roles of Race, Place, and Disease State Dr. Carlton Haywood Jr., Johns Hopkins University 3/28: Strategies to Improve Implementation of Hydroxyurea Dr. Courtney Thornburg, Duke Pediatric Sickle Cell Clinic 4/25: Building Behavioral and Social Science Databases for the Hemoglobinopathies: Lessons from the Study of Thalassemia Dr. Robert Yamashita, California State University San Marcos 5/23: Baby on Board: What You Need to Know about Pregnancy in the Hemoglobinopathies Dr. Sophie Lanzkron, Sickle Cell Center for Adults at Johns Hopkins Hospital 6/27: Beta-globin Haplotype Analysis in Children with Sickle Cell Anemia Dr. Christopher Bean, National Center on Birth Defects and Developmental Disabilities, CDC 7/25: Nurses’ Impact on the Stigmatization of Individuals with Sickle Cell: Challenges and Recommendations Dr. Coretta Jenerette, International Association of Sickle Cell Nurses and Physician Assistants 8/22: Mental Health and Learning Needs in children with Sickle Cell Disease Dr. Patricia Kavanagh, Boston University School of Medicine/Boston Medical Center 9/26: NHLBI Sickle Cell Disease Guidelines Dr. Joylene John-Sowah, National Heart Lung and Blood Institute, NIH 10/24: Current Data on Efficacy and Effectiveness of Hydroxyurea in Children with Sickle Cell Disease Dr. Winfred Wang, St. Jude Children’s Research Hospital November/December: --- No Webinars--- If you have ideas on topics for future webinars, or have any questions or comments about this series please submit them to Shae Pope spope@cdc.gov . The purpose of this webinar series is to offer a hemoglobinopathies learning collaborative platform for providers, consumers, educators, and scientists. CDC Web based Sickle Cell Resources CDC’s YouTube Link: http://www.youtube.com/watch?v=gnrvYsZWR1c&list=UUiMg06DjcUk5FRiM3g5sqoQ&index=2&feature=plpp_video CDC Video Archive (http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-health CDC Sickle Cell Disease Webpage:http://wwwdev.cdc.gov/NCBDDD/sicklecell/video.html Articles in the Medical Literature for January 1. Lab Chip. 2013 Feb 22. [Epub ahead of print] A simple, rapid, low-cost diagnostic test for sickle cell disease. Yang X, Kanter J, Piety NZ, Benton MS, Vignes SM, Shevkoplyas SS. Department of Biomedical Engineering, Tulane University, New Orleans, LA 70118. shevkop@tulane.edu. Abstract This communication describes a very simple, rapid and inexpensive point-of-care diagnostic test for sickle cell disease (SCD) that can conclusively differentiate between blood samples from normal healthy individuals, sickle cell trait carriers and SCD patients using the characteristic blood stain patterns produced by each sample on paper. PMID: 23429713 [PubMed - as supplied by publisher] 2. Pediatr Neurol. 2013 Mar;48(3):188-99. doi: 10.1016/j.pediatrneurol.2012.12.004. Cerebral blood flow abnormalities in children with sickle cell disease: a systematic review. Behpour AM, Shah PS, Mikulis DJ, Kassner A. Department of Diagnostic Imaging, Hospital for Sick Children, Toronto, Ontario, Canada; Department of Medical Imaging, University of Toronto, Toronto, Ontario, Canada. Abstract A systematic review was performed to assess whether cerebral blood flow with different imaging modalities could identify brain abnormalities in children with sickle cell disease where structural magnetic resonance imaging and transcranial Doppler velocity appeared normal. A total of 11 studies were identified which reported cerebral blood flow abnormalities alongside structural magnetic resonance imaging or transcranial Doppler velocity abnormalities in patients with sickle cell disease. Potential for bias was assessed with the quality assessment of diagnostic accuracy studies scale in addition to treatment bias. Subjects of each study were categorized into patients with and without stroke. The prevalence of abnormalities for each modality was then separately calculated in each group. The included studies had mostly moderate degrees of bias. The prevalence of blood flow abnormalities compared with structural magnetic resonance imaging abnormalities was equal to or lower in patients with stroke and equal to or greater in patients without stroke. Blood flow abnormalities were more prevalent than transcranial Doppler abnormalities in four studies of patients without stroke and in one study of patients with stroke. The studies suggest that the assessment of cerebral blood flow in sickle cell disease can be of potential value in addressing brain abnormalities at the tissue level; however, further studies are warranted. Copyright © 2013 Elsevier Inc. All rights reserved. PMID: 23419469 [PubMed - in process] 3. Pediatr Blood Cancer. 2013 Feb 15. doi: 10.1002/pbc.24486. [Epub ahead of print] Exploring barriers and facilitators to clinical trial enrollment in the context of sickle cell anemia and hydroxyurea. Lebensburger JD, Sidonio RF, Debaun MR, Safford MM, Howard TH, Scarinci IC. Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama. jlebensburger@peds.uab.edu. Abstract BACKGROUND: Several sickle cell clinical trials have closed due to inability to enroll patients. To limit the early cessation of a proposed clinical trial due to low accrual rates, we sought to better understand barriers and facilitators to enrolling parents of children with sickle cell anemia (SCD) into clinical trials. PROCEDURE: Focus groups (n = 3) were conducted with parents/guardians (n = 14) who had not previously been recruited for a clinical trial and were not administering hydroxyurea to their children. RESULTS: Three main themes related to barriers to clinical trial enrollment were identified during analysis of focus groups: general barriers to health related research (general mistrust of research studies, emotional and practical concerns), barriers to trial design (randomization), and barriers to hydroxyurea (long term unknown risks, cancer, myelosuppressive effects). Facilitators identified were need for more education, including request for peer education, and improved explanation of clinical trials or study rationale. CONCLUSION: Engagement of parents/guardians of children with SCD in identifying barriers and facilitators to clinical trial enrollment may be critical to the development of strategies to enhance SCD trial completion. Pediatr Blood Cancer © 2013 Wiley Periodicals, Inc. Copyright © 2013 Wiley Periodicals, Inc. PMID: 23418000 [PubMed - as supplied by publisher] 4. Biol Blood Marrow Transplant. 2013 Feb 14. pii: S1083-8791(13)00082-7. doi: 10.1016/j.bbmt.2013.02.010. [Epub ahead of print] Long Term Outcome and Evaluation of Organ Function in Pediatric Patients Undergoing Haploidentical and Matched Related Hematopoietic Cell Transplantation for Sickle Cell Disease. Dallas M, Triplett B, Shook D, Hartford C, Srinivasan A, Laver J,Ware R, Leung W. Departmentof BoneMarrowTransplantationand CellularTherapy,St. JudeChildren's Research Hospital; Departmentof Pediatrics,Universityof TennesseeHealthScienceCenter, College of Medicine, Memphis, Tennessee. Electronic address: mari.dallas@stjude.org. Abstract Human leukocyte antigen (HLA) matched related donor (MRD) hematopoietic stem cell transplant (HSCT) for patients with sickle cell disease (SCD) has been well established, however experience using alternative donors, including haploidentical donors for treatment of SCD is limited. We report the long-term outcome of 22 pediatric patients who underwent a related donor HSCT for SCD at St. Jude Children's Research Hospital. Patients received a myeloablative MRD from a sibling (14) or reduced intensity parental haploidentical (8) HSCT. The medianageforthe patients who underwent a MRD and haploidentical donor HSCT were11.0±3.9 yrs. and9.0±5.0 yrs., respectively. The median time to follow up for the MRD cohort was 9.0 ± 2.3 yrs. withan overallsurvival (OS) of93%andrecurrence/graftfailureof0%. The median follow up for the haploidentical donor cohort was 7.4 ± 2.4 years with an OSof75%, disease free survival of 38%anddisease recurrence of 38%. We report the long-term hematological response and organ function in patients undergoing a MRD and haploidentical donor HSCT for severe SCD. Our data demonstrate long-term hematologic improvements after HSCT for our patients with sustained engraftment. In summary, our dataconfirmsthatHSCT offerslong--termprotectionfromcomplicationsthat commonlydevelopinpatientswithSCDsuchasstroke,pulmonaryhypertension, acutechest and nephropathy, regardless of donor source. Copyright © 2013 American Society for Blood and Marrow Transplantation. Published by Elsevier Inc. All rights reserved. PMID: 23416852 [PubMed - as supplied by publisher] 5. J Hematol Oncol. 2013 Feb 17;6(1):17. [Epub ahead of print] A double-blind, randomized, multicenter phase 2 study of prasugrel versus placebo in adult patients with sickle cell disease. Wun T, Soulieres D, Frelinger AL, Krishnamurti L, Novelli EM,Kutlar A, Ataga KI, Knupp CL, McMahon LE, Strouse JJ, Zhou C,Heath LE, Nwachuku CE, Jakubowski JA, Riesmeyer JS, Winters KJ. Abstract ABSTRACT: BACKGROUND: Platelet activation has been implicated in the pathogenesis of sickle cell disease (SCD) suggesting antiplatelet agents may be therapeutic. To evaluate the safety of prasugrel, a thienopyridine antiplatelet agent, in adult patients with SCD, we conducted a double-blind, randomized, placebo-controlled study. METHODS: The primary endpoint, safety, was measured by hemorrhagic events requiring medical intervention. Patients were randomized to prasugrel 5 mg daily (n = 41) or placebo (n = 21) for 30 days. Platelet function by VerifyNow(R) P2Y12 and vasodilator-stimulated phosphoprotein assays at days 10 and 30 were significantly inhibited in prasugrel- compared with placebo-treated SCD patients. RESULTS: There were no hemorrhagic events requiring medical intervention in either study arm. Mean pain rate (percentage of days with pain) and intensity in the prasugrel arm were decreased compared with placebo. However, these decreases did not reach statistical significance. Platelet surface P-selectin and plasma soluble P-selectin, biomarkers of in vivo platelet activation, were significantly reduced in SCD patients receiving prasugrel compared with placebo. In sum, prasugrel was well tolerated and not associated with serious hemorrhagic events. CONCLUSIONS: Despite the small size and short duration of this study, there was a decrease in platelet activation biomarkers and a trend toward decreased pain. Free Article PMID: 23414938 [PubMed - as supplied by publisher] 6. J Health Psychol. 2013 Feb 13. [Epub ahead of print] Psychological aspects and hospitalization for pain crises. Tsao J, Jacob E, Seidman L, Lewis MA, Zeltzer L. University of California, Los Angeles, USA. Abstract Sickle-cell disease is a genetic disorder characterized by severe pain episodes or "vaso-occlusive crises" that may require hospitalization. This study examined the associations among emotion regulation, somatization, positive and negative affect, and hospitalizations for pain crises in youth with sickle-cell disease. Multivariate analyses indicated that emotional suppression and somatization were significantly associated with more frequent hospitalizations for pain crises in the previous year after controlling for sickle-cell disease type and pain. These results suggest that efforts to reduce emotional suppression and somatization may assist in decreasing the frequency of hospitalizations for pain crises among youth with sickle-cell disease. PMID: 23407129 [PubMed - as supplied by publisher] Related citations 7. Am J Emerg Med. 2013 Feb 1. pii: S0735-6757(12)00568-2. doi: 10.1016/j.ajem.2012.11.005. [Epub ahead of print] The impact of race and disease on sickle cell patient wait times in the emergency department. Haywood C Jr, Tanabe P, Naik R, Beach MC, Lanzkron S. Department of Medicine, Division of Hematology, The Johns Hopkins School of Medicine, Baltimore, MD 21205, USA; The Johns Hopkins Berman Institute of Bioethics, Baltimore, MD 21205, USA. Electronic address: chaywoodjr@jhu.edu. Abstract STUDY OBJECTIVE: To determine whether patients with sickle cell disease (SCD) experience longer wait times to see a physician after arrival to an emergency department (ED) compared to patients with long bone fracture and patients presenting with all other possible conditions (General Patient Sample), and to attempt to disentangle the effects of race and disease status on any observed differences. METHODS: A cross-sectional, comparative analysis of year 2003 through 2008 data from the National Hospital Ambulatory Medical Care Survey, a nationally representative sample of nonfederal emergency department visits in the United States. Our primary outcome was wait time (in minutes) to see a physician after arrival to an ED. A generalized linear model was used to examine ratios of wait times comparing SCD visits to the two comparison groups. RESULTS: SCD patients experienced wait times 25% longer than the General Patient Sample, though this difference was explained by the African-American race of the SCD patients. SCD patients waited 50% longer than did patients with long bone fracture even after accounting for race and assigned triage priority. CONCLUSIONS: Patients with SCD presenting to an ED for care experience longer wait times than other groups, even after accounting for assigned triage level. The African-American race of the SCD patients, and their status as having SCD itself, both appear to contribute to longer wait times for these pati Sickle Cell News for January 2013 Sickle Cell Test Gets NCAA OK Despite Docs The National Collegiate Athletic Association (NCAA) has approved mandatory confirmation of sickle cell trait status in Division III student athletes, despite the objections of the American Society of Hematology (ASH). NCAA delegates voted 254 to 200 in favor of the measure at the 2013 NCAA convention over the weekend. Confirmation of sickle cell status will be required of all incoming student athletes in the 2013-2014 school year and for all athletes by 2014-2015. Mandatory sickle cell screening is already required by the NCAA in Division I and Division II athletes. Last year, ASH challenged the NCAA, declaring that athletes need not be tested for or disclose sickle cell trait status before participating in sporting events. In a statement released over the weekend, ASH said the "NCAA policy is medically groundless – perhaps even dangerous – and is focused more on protecting the NCAA from legal liability than protecting the health of student athletes." http://www.medpagetoday.com/Orthopedics/SportsMedicine/36947 also see http://www.ncaa.org/wps/wcm/connect/public/NCAA/Health+and+Safety/Sickle+Cell/Sickle+Cell+Landing+Page Fighting Painful Misconceptions About Sickle Cell Disease In The ER When sickle cell patients arrive at emergency rooms, they often have great difficulty getting the treatment they need. Paula Tanabe, an associate professor at the Duke University School of Nursing, is making it her mission to change that. http://www.kaiserhealthnews.org/Stories/2013/January/24/sickle-cell-misconceptions-and-the-ER.aspx Bahrain to Host International Conference on Sickle Cell Disease, Management and Prevention http://www.bna.bh/portal/en/news/542546 Bahrain is hoping to benefit from international experience when it hosts a global conference about sickle cell disease. Hundreds of patients and doctors are expected to attend the event, taking place at the Ritz-Carlton Bahrain, Hotel and Spa from February 5 to 7. The International Conference on Sickle Cell Disease, Management and Prevention is being organised by the Health Ministry and held under the patronage of His Royal Highness Prime Minister Prince Khalifa bin Salman Al Khalifa. "Prominent speakers from around the world, the Middle East and GCC as well as from Bahrain have already confirmed their participation," said National Committee to Combat Genetic Diseases and students screening programme head Dr Shaikha Al Arrayed. "The conference will also provide an interactive forum for participants to discuss important and emerging health issues," she said. "The event will be an opportunity to strengthen communication and networking and to share best practices and improve the health of blood disorder populations."This is the time to unite to fight these diseases and protect the new generation." Dr Al Arrayed said emerging health issues, protocols for pain management, prevention and treatment of opiate addiction, avoidance of causes of death in patients and avoidance of complications such as acute chest syndrome, stroke, renal failure and vascular necrosis would be discussed at the event. Participants will also learn about alternative forms of treatment. Sickle Cells Show Potential to Attack Aggressive Cancer Tumors Reporting in the Jan. 9, 2013, edition of the on-line journal PLOS ONE, the researchers describe a process of exploiting sickle-shaped red blood cells to selectively target oxygen deprived cancer tumors in mice and block the blood vessels that surround them. "Sickle cells appear to be a potent way to attack hypoxic (oxygen-starved) solid tumors, which are notable for their resistance to existing cancer chemotherapy agents and radiation," said senior author Mark W. Dewhirst, DVM, PhD, a radiation oncologist and director of Duke's Tumor Microcirculation Laboratory. "This is an exciting finding that suggests a potential new approach to fighting tumors that are currently associated with aggressive disease." http://www.sciencedaily.com/releases/2013/01/130109185852.htm Greensboro's Cone Health To Open Sickle Cell Center The center will be the second round-the-clock sickle cell center in the southeast.http://www.digtriad.com/video/default.aspx?bctid=2081955080001 5-year-old twin rappers battling sickle cell anemia Marcus and Marlon Davis are identical 5-year-old twins who could be the next big rappers to hail from Houston. But first, they'll have to overcome an obstacle bigger than those typically faced by singers seeking fame in the rap game. Their group -- The Official Two Times Two -- is out with their new single called, "I'ma Act Bad."The twins were four when they started rapping, but they're moving up quickly. Marcus and Marlon recently had their first live performance at a small downtown venue. "It was fantastic. I thought they were going to be nervous but they weren't," said their mother, Felicia Pollard. Their mother is nervous for another reason.The twins have a severe case of sickle cell anemia. "They've been hospitalized 36 times, both of them," Pollard said. "Marlon, we almost lost him before Thanksgiving,” said their aunt and manager, Linda Marshall. Doctors have told the family that the twins may not live to see the age of 21. Sickle cell causes the boys' red blood cells to collapse into a crescent shape. This can lead to organ damage. It always leads to excruciating pain. In between hospital stays, Marcus and Marlon enjoy sessions in the studio. "It keeps 'em focused, you know, keeps their mind off their pain," Marshall said. Their next goal is to appear on "The Ellen DeGeneres Show." http://www.khou.com/news/health/Young-Houston-rappers-battle-sickle-cell-anemia--185480032.html Video Resources SAVE THE DATES Fellow colleagues, you are invited to participate in the“Public Health Webinar Series on Hemoglobinopathies” Hosted by: The Division of Blood Disorders, CDC 4th Thursday of every month from 2:00PM – 3:00PM EST 2013 Dates: 1/24, 2/28, 3/28, 4/25, 5/23, 6/27, 7/25, 8/22, 9/26, 10/24 The purpose of this webinar series is to offer a hemoglobinopathies learning collaborative platform for providers, consumers, educators, and scientists. CDC Web based Sickle Cell Resources CDC’s YouTube Link: http://www.youtube.com/watch?v=gnrvYsZWR1c&list=UUiMg06DjcUk5FRiM3g5sqoQ&index=2&feature=plpp_video CDC Video Archive (http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-health CDC Sickle Cell Disease Webpage: http://wwwdev.cdc.gov/NCBDDD/sicklecell/video.html Articles in the Medical Literature for January 1. Blood. 2013 Jan 24. [Epub ahead of print] Erythrocyte NADPH oxidase activity modulated by Rac GTPases, PKC, and plasma cytokines contributes to oxidative stress in sickle cell disease. George A, Pushkaran S, Konstantinidis DG, Koochaki S, Malik P,Mohandas N, Zheng Y, Joiner CH, Kalfa TA. Texas Children's Hematology Center, Texas Children's Hospital, Houston, TX, United States; Abstract Chronic inflammation has emerged as an important pathogenic mechanism in sickle cell disease (SCD). One component of this inflammatory response is oxidant stress mediated by reactive oxygen species (ROS) generated by leukocytes, endothelial cells, plasma enzymes, and sickle red blood cells (RBC). Sickle RBC ROS generation has been attributed to sickle hemoglobin auto-oxidation and Fenton chemistry reactions catalyzed by denatured heme moieties bound to the RBC membrane. In this study, we demonstrate that a significant part of ROS production in sickle cells is mediated enzymatically by NADPH oxidase, which is regulated by protein kinase C, Rac GTPase and intracellular Ca(2+) signaling within the sickle RBC. Moreover, plasma from patients with SCD and isolated cytokines, such as TGFβ1 and ET1, enhance RBC NADPH oxidase activity and increase ROS generation. ROS-mediated damage to RBC membrane components is known to contribute to erythrocyte rigidity and fragility in SCD. Erythrocyte ROS generation, hemolysis, vaso-occlusion, and the inflammatory response to tissue damage may therefore act in a positive feedback loop to drive the pathophysiology of sickle cell disease. These findings suggest a novel pathogenic mechanism in SCD and may offer new therapeutic targets to counteract inflammation and RBC rigidity and fragility in sickle cell disease. PMID: 23349388 [PubMed - as supplied by publisher] Related citations Icon for HighWire 2. Am J Respir Crit Care Med. 2013 Jan 24. [Epub ahead of print] Hemodynamic Predictors of Mortality in Adults with Sickle Cell Disease. Mehari A, Alam S, Tian X, Cuttica MJ, Barnett CF, Miles G, Xu D,Seamon C, Adams-Graves P, Castro OL, Minniti CP, Sachdev V,Taylor Vi JG, Kato GJ, Machado RF. Cardiovascular and Pulmonary Branch, National Heart, Lung, and Blool Institute, Bethesda, Maryland, United States. Abstract BACKGROUND: Pulmonary hypertension (PH) in adults with sickle cell disease (SCD) is associated with early mortality, but no prior studies have evaluated quantitative relationships of mortality to physiological measures of pre- and post-capillary PH. OBJECTIVE: To identify risk factors associated with mortality and to estimate the expected survival in a cohort of patients with SCD with PH documented by right heart catheterization. METHODS: Nine year follow-up data (median 4.7 years) from the NIH SCD PH screening study are reported. Five hundred twenty-nine adults with SCD were screened by echocardiography between 2001 and 2010 with no exclusion criteria. Hemodynamic data were collected from 84 patients. PH was defined as mean pulmonary artery pressure (PAP) ≥25 mmHg. Survival rates were estimated by the Kaplan-Meier method and mortality risk factors were analyzed by the Cox proportional hazards regression. MEASUREMENTS AND MAIN RESULTS: Specific hemodynamic variables were independently related to mortality: mean PAP (HR 1.61, 95% CI 1.05- 2.45, per 10 mmHg increase, P=0.027), diastolic PAP (HR 1.83, 95% CI 1.09-3.08, per 10 mmHg increase, P=0.022), diastolic PAP - pulmonary capillary wedge pressure (HR 2.19, 95% CI 1.23-3.89, per 10 mmHg increase, P=0.008), transpulmonary gradient (HR 1.78, 95% CI 1.14-2.79 per 10 mmHg increase, P=0.011), pulmonary vascular resistance (HR 1.44 , 95% CI 1.09-1.89 per Wood unit increase, P=0.009 ) as risk factors for mortality. CONCLUSION: Mortality in adults with SCD and PH is proportional to the physiological severity of pre-capillary PH, demonstrating its prognostic and clinical relevance despite anemia-induced high cardiac output and less severely elevated pulmonary vascular resistance. PMID: 23348978 [PubMed - as supplied by publisher] Related citations Icon for HighWire 3. Nephrol Dial Transplant. 2013 Jan 22. [Epub ahead of print] Improved survival among sickle cell kidney transplant recipients in the recent era. Huang E, Parke C, Mehrnia A, Kamgar M, Pham PT, Danovitch G,Bunnapradist S. 1Division of Nephrology, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA. Abstract BackgroundStudies from older cohorts of kidney recipients have observed that recipients with sickle cell disease (SCD) have lower patient survival compared with age- and race-matched controls. We examined whether survival has improved among SCD recipients in the current era.MethodsUsing Organ Procurement and Transplantation Network/United Network for Organ Sharing data, all black/African-American kidney recipients were stratified according to transplant year into an early (1988-99) and recent era (2000-11). Patient and allograft survival among SCD recipients and those with other diagnoses were compared (early era: SCD n = 67, others n = 20 694; recent era: SCD n = 106, others n = 34 428). A secondary-matched cohort analysis compared patient and allograft survival between SCD recipients matched to recipients with other diagnoses based on recipient and donor age, gender and donor type (deceased versus living).ResultsPatient survival at 6 years was lower among SCD recipients in the early era compared with other diagnoses (55.7 versus 78.0%; P < 0.001). Six-year patient survival among sickle cell recipients improved in the recent era (69.8%; P versus early era = 0.04), although still trended toward lower survival compared with other diagnoses (80.0%; P = 0.07). Multivariate Cox proportional hazard models revealed an increased mortality risk with SCD in both eras [early: hazard ratio (HR) = 3.12; 95% confidence interval (CI): 2.15-4.54; recent: HR: 2.03; 95% CI: 1.31-3.16]. Patient survival among matched SCD recipients in the recent era was comparable to diabetic recipients (SCD: 73.1%, diabetes: 74.1%; P = 0.44).ConclusionsPatient survival has improved among contemporary sickle cell recipients compared with an earlier cohort and is comparable to a matched cohort of diabetic kidney recipients. Appropriately selected SCD patients may receive kidney transplants with reasonable survival outcome. PMID: 23345624 [PubMed - as supplied by publisher] Related citations Icon for HighWire 4. Pain Manag Nurs. 2013 Jan 21. pii: S1524-9042(12)00175-0. doi: 10.1016/j.pmn.2012.10.007. [Epub ahead of print] Care Seeking for Pain in Young Adults with Sickle Cell Disease. Jenerette CM, Brewer CA, Ataga KI. School of Nursing, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina. Electronic address:coretta.jenerette@unc.edu. Abstract In individuals with sickle cell disease (SCD), recognizing the cues to an acute pain episode and responding appropriately are important. The purpose of this mixed-methods pilot study is to identify preliminary factors that influence care seeking for pain in young adults with SCD. Responses were received from 69 young adults with SCD, age 18-35 years. The majority of respondents (88%) wait until the pain intensity is an average of 8.7 (± 1.2) on a scale of 1 to 10 before seeking care. Prominent themes influencing care seeking for pain include: trying to treat pain at home, avoiding the emergency department because of past treatment experiences, the desire to avoid admission to the hospital, and the importance of time in the lives of the young adults with SCD. Young adults with SCD need additional support from family and healthcare providers in order to make timely, appropriate decisions regarding care seeking. Copyright © 2013 American Society for Pain Management Nursing. Published by Elsevier Inc. All rights reserved. PMID: 23343879 [PubMed - as supplied by publisher] Related citations 5. J Natl Med Assoc. 2012 Sep-Oct;104(9-10):449-54. Sickle cell disease patients' perceptions of emergency department pain management. Porter J, Feinglass J, Artz N, Hafner J, Tanabe P. St. Jude Children's Research Hospital, Department of Psychology, Memphis, TN 38105, USA. Abstract Patients with sickle cell disease (SCD) experience painful crises that often require admission to the emergency department (ED) for pain management. Factors such as ED overcrowding and negative perception and stigmatization of SCD may impact patients' perceptions of the quality of pain management in the ED. Data from a multisite prospective cohort study was assessed to determine whether demographic (age and sex), clinical (time to administration of initial analgesia, number of analgesic doses, discharge disposition, and clinical site), or interpersonal factors (separately measured perceptions of being treated with trust and respect by ED triage nurses, nurses, and physicians) were associated with patient ratings of their pain management in the ED. Patients were adults with SCD seen at 3 EDs (2 urban and 1 rural). Demographic and clinical information was derived from medical record review; interpersonal and ED pain management ratings were derived from interviews conducted 1 week post ED visit. A total of 209 interviews by 98 patients were analyzed. Results indicated significant differences among the ED sites on the demographic, clinical, and interpersonal factors. Overall, patients reported being treated with trust and respect by ED clinicians. Adjusted logistic regression analyses indicated that ED clinical site 1 (odds ratio [OR], 10.42; 95% confidence interval [Cl], 1.44-7.36) and being treated with trust and respect by the ED physician (OR, 25.53; 95% CI, 2.07-314.96) predicted good ED pain management ratings. Interpersonal health care experiences may be an important indicator of patient satisfaction and quality of care received by patients with SCD in the ED. PMID: 23342819 [PubMed - in process] Related citations 6. Pediatr Infect Dis J. 2013 Jan 21. [Epub ahead of print] Epidemiology of Bloodstream Infections in Children with Sickle Cell Disease. Ellison AM, Ota KV, McGowan KL, Smith-Whitley K. From the Divisions of 1Emergency Medicine and 3Hematology, Department of Pediatrics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania; 2 the Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania. Abstract The incidence of invasive Streptococcus pneumoniae and Haemophilus influenzae type b infections in the sickle cell disease (SCD) population has declined. In this report, we determine the predominant organisms responsible for bloodstream infections (BSIs) and associated foci of infection in a pediatric SCD population during the post heptavalent conjugate (PCV7) vaccine era. Central venous access device associated infections are a new burden to efforts aimed at preventing BSIs in this population. PMID: 23340560 [PubMed - as supplied by publisher] Related citations Icon for Lippincott Williams & Wilkins 7. Transl Res. 2013 Jan 18. pii: S1931-5244(12)00447-1. doi: 10.1016/j.trsl.2012.12.011. [Epub ahead of print] Gene therapy for hemoglobinopathies: progress and challenge. Dong A, Rivella S, Breda L. Weill Cornell Medical College, Department of Pediatrics, Division of Hematology-Oncology, New York, NY. Abstract Hemoglobinopathies are genetic inherited conditions that originate from the lack or malfunction of the hemoglobin protein. Sickle cell disease (SCD) and thalassemia are the most common forms of these conditions. The severe anemia combined with complications that arise in the most affected patients raises the necessity for a cure to restore hemoglobin function. The current routine therapies for these conditions, namely transfusion and iron chelation, have significantly improved the quality of life in patients over the years, but still fail to address the underlying cause of the diseases. A curative option, allogeneic bone marrow transplantation is available, but limited by the availability of suitable donors and graft-vs-host disease. Gene therapy offers an alternative approach to cure patients with hemoglobinopathies and aims at the direct recovery of the hemoglobin function via globin gene transfer. In the last 2 decades, gene transfer tools based on lentiviral vector development have been significantly improved and proven curative in several animal models for SCD and thalassemia. As a result, clinical trials are in progress and 1 patient has been successfully treated with this approach. However, there are still frontiers to explore that might improve this approach: the stoichiometry between the transgenic hemoglobin and endogenous hemoglobin with respect to the different globin genetic mutations; donor cell sourcing, such as the use of induced pluripotent stem cells (iPSCs); and the use of safer gene insertion methods to prevent oncogenesis. With this review we will provide insights about (1) the different lentiviral gene therapy approaches in mouse models and human cells; (2) current and planned clinical trials; (3).hurdles to overcome for clinical trials, such as myeloablation toxicity, insertional oncogenesis, and high vector expression; and (4) future perspectives for gene therapy, including safe harbors and iPSCs technology. Copyright © 2012 Mosby, Inc. All rights reserved. PMID: 23337292 [PubMed - as supplied by publisher] Related citations Icon for Elsevier Science 8. Pediatr Blood Cancer. 2013 Jan 17. doi: 10.1002/pbc.24459. [Epub ahead of print] Age-related treatment patterns in sickle cell disease patients and the associated sickle cell complications and healthcare costs. Blinder MA, Vekeman F, Sasane M, Trahey A, Paley C, Duh MS. Department of Medicine and Department of Pathology & Immunology, Washington University in St. Louis, St. Louis, Missouri.mblinder@dom.wustl.edu. Abstract BACKGROUND: This study explored the blood transfusion patterns, SCD complications, utilization of iron chelation therapies (ICT), healthcare resource use, and costs in pediatric, transitioning (18 years old) and adult p Sickle Cell News for December 2012 Q&A with Dr. Kwaku Ohene-Frempong about the importance of sickle cell screening and disparities between the US and abroad To mark the 50th anniversary of newborn screening, we did an interview with Dr. Kwaku Ohene-Frempong about screening for SCD and trait. Dr. Ohene-Frempong is the Director Emeritus of the Comprehensive Sickle Cell Center at Children’s Hospital of Philadelphia, President of the Sickle Cell Foundation of Ghana, and a NICHQ faculty member. Link http://www.nichq.org/resources/Sickle-Cell-Frempong-QA-Dec2012.html Into Adulthood, Sickle Cell Patients Rely on ER Patients with sickle cell disease rely more on the emergency room as they move from pediatric to adult health care, according to researchers at Washington University School of Medicine in St. Louis. Link http://www.infozine.com/news/stories/op/storiesView/sid/54200/ Sickle cell patient refuses to let disease define her Marquita Gaines is a college student living with sickle cell disease. She was diagnosed at birth and first presented symptoms at a young age. She currently receives regular blood cell transfusions administered by registered nurses from the American Red Cross to treat and prevent complications from the disease Link http://www.cnn.com/2012/12/13/us/iyw-blood-donor-gaines/ Ask The Experts Q: What is the best diet to give a 8 year old with sickle cell disease (Hb SS) A: Thank you for your question. Diet in sickle cell disease is the subject of active research, but the studies are far from complete or conclusive. Researchers have not tried to demonstrate a what a "Sickle Cell Diet" should be. Here are some bits of information: (1) Sickle hemoglobin and breakdown of sickle red blood cells place the body under high oxidant stress, so that taking anti-oxidants supplements seem like a good idea. (2) Blood chemistries in people with sickle cell are slightly abnormal in multiple different ways. Supplementing for the deficiencies seem like a good idea. (3) Studies have been designed to examine single-ingredient supplements such as vitamins ( folic acid, tetrahydrobiopterin, vitamin D, vitamin C, vitamin E), minerals ( zinc, magnesium), amino acids ( glutamine, arginine, citrulline), anti-oxidants, nitrite, nitrate, or fish oil. I don't remember seeing studies designed as head-to-head comparions to show what ingredient(s) are the most important. (4) We do think that extra iron supplements are not necessary for sickle cell disease, unless somebody has lost a lot of blood or has demonstrated unusual barriers to iron absorption. (5) Probably the only advice we can give is to eat a generally balanced diet as recommended for most American families in the general population: plenty of fruits & vegetables, balanced protein intake (meats, dairy, nuts & beans), drink plenty of fluids, eat dietary fiber, and avoid excessive amounts of sugary or fried snacks. This nutritional advice is based on dietary research on reduce the risks of diabetes, heart attacks, stroke, and some cancers. Sincerely, Lewis Hsu, MD Pediatric Hematologist Video Resources SAVE THE DATESFellow colleagues, you are invited to participate in the“Public Health Webinar Series on Hemoglobinopathies” Hosted by: The Division of Blood Disorders, CDC 4th Thursday of every month from 2:00PM – 3:00PM EST2013 Dates: 1/24, 2/28, 3/28, 4/25, 5/23, 6/27, 7/25, 8/22, 9/26, 10/24 The purpose of this webinar series is to offer a hemoglobinopathies learning collaborative platform for providers, consumers, educators, and scientists. January’s webinar will take place on Thursday, January 24th from 2:00pm – 3:00pm EST, featuring Dr. Thomas Coates’ presentation on “Monitoring and Management of Transfusional Iron Overload”If you have ideas on topics for future webinars, or have any questions or comments about this series please submit them to Shae Pope spope@cdc.gov. CDC would appreciate your feedback on this year’s “Public Health Webinar Series on Hemoglobinopathies” hosted by the Division of Blood Disorders, CDCby completing a brief online survey: http://www.surveymonkey.com/s/M986NWM Please forward the survey link to colleagues who participated on this webinar series as a group.Your feedback is valuable and will help us improve the series for 2013. Thank you for your participation! CDC Web based Sickle Cell Resources CDC’s YouTube Link: http://www.youtube.com/watch?v=gnrvYsZWR1c&list=UUiMg06DjcUk5FRiM3g5sqoQ&index=2&feature=plpp_video CDC Video Archive (you can get the video code from this site and embed the video on another webpage, or download it): http://www.cdc.gov/NCBDDD/video/SickleCell/index.html CDC Sickle Cell Disease Webpage: http://wwwdev.cdc.gov/NCBDDD/sicklecell/video.html Articles in the Medical Literature for November 1. Blood. 2012 Dec 20. [Epub ahead of print] Hemolysis and free hemoglobin revisited: exploring hemoglobin and hemin scavengers as a novel class of therapeutic proteins. Schaer DJ, Buehler PW, Alayash AI, Belcher JD, Vercellotti GM. Division of Internal Medicine, University Hospital, Zurich, Switzerland; Abstract Hemolysis occurs in many hematologic and non-hematologic diseases. Extracellular hemoglobin (Hb) has been recognized to trigger specific pathophysiologies that are associated with ad verse clinical outcomes in patients with hemolysis, such as acute and chronic vascular disease, inflammation, thrombosis and renal impairment. Among the molecular characteristics of extracellular Hb, translocation of the molecule into the extravascular space, oxidative and nitric oxide reactions, hemin release and molecular signaling effects of hemin appear to be the most critical. Limited clinical experience with a plasma-derived haptoglobin product in Japan and more recent preclinical animal studies suggest that the natural Hb and hemin scavenger proteins haptoglobin (Hp) and hemopexin (Hpx) have a strong potential to neutralize the adverse physiologic effects of Hb and hemin. This includes conditions that are as diverse as red blood cell transfusion, sickle cell disease, sepsis and extracorporeal circulation. This perspective reviews the principal mechanisms of Hb and hemin toxicity in different disease states, updates how the natural scavengers efficiently control these toxic moieties, and explores critical issues in the development of human plasma-derived Hp and Hpx as therapeutics for patients with excessive intravascular hemolysis. PMID: 23264591 [PubMed - as supplied by publisher] 2. Transfus Apher Sci. 2012 Dec 17. pii: S1473-0502(12)00234-0. doi: 10.1016/j.transci.2012.09.002. [Epub ahead of print] Long-term red blood cell exchange in children with sickle cell disease: Manual or automatic? Duclos C, Merlin E, Paillard C, Thuret I, Demeocq F, Michel G, Kanold J. CHU Bordeaux Hôpital Haut-Lévêque, Service hématologie, 33600 Pessac, France. Electronic address: cedric.duclos@chu-bordeaux.fr. Abstract Little information is available on erythrocytapheresis in children with sickle cell disease, and no comparison has ever been made with manual exchanges in a long-term blood exchange program. We matched a historical cohort of five patients who received 60 erythrocytapheresis procedures with five who received 124 manual exchanges. Long-term erythrocytapheresis was feasible and well-tolerated even in children of low weight. In a long-term approach, automated exchanges were more efficient in maintaining a low HbS level, and exchanges could be spaced out. This approach appears especially useful in the cases where the HbS level must be maintained below 30%. Copyright © 2012 Elsevier Ltd. All rights reserved. PMID: 23257506 [PubMed - as supplied by publisher] 3. Am J Hematol. 2012 Nov 17. doi: 10.1002/ajh.23365. [Epub ahead of print] Hydroxyurea treatment decreases glomerular hyperfiltration in children with sickle cell anemia. Aygun B, Mortier NA, Smeltzer MP, Shulkin BL, Hankins JS, Ware RE. Department of Hematology, St. Jude Children's Research Hospital, Memphis, Tennessee. baygun@nshs.edu. Abstract Glomerular hyperfiltration and microalbuminuria/proteinuria are early manifestations of sickle nephropathy. The effects of hydroxyurea therapy on these renal manifestations of sickle cell anemia (SCA) are not well defined. Our objective was to investigate the effects of hydroxyurea on glomerular filtration rate (GFR) measured by (99m) Tc-DTPA clearance, and on microalbuminuria/proteinuria in children with SCA. Hydroxyurea study of long-term effects (HUSTLE) is a prospective study (NCT00305175) with the goal of describing the long-term cellular, molecular, and clinical effects of hydroxyurea therapy in SCA. Glomerular filtration rate, urine microalbumin, and serum cystatin C were measured before initiating hydroxyurea therapy and then repeated after 3 years. Baseline and Year 3 values for HUSTLE subjects were compared using the Wilcoxon Signed Rank test. Associations between continuous variables were evaluated using Spearman correlation coefficient. Twenty-three children with SCA (median age 7.5 years, range, 2.5-14.0 years) received hydroxyurea at maximum tolerated dose (MTD, 24.4 ± 4.5 mg/kg/day, range, 15.3-30.6 mg/kg/day). After 3 years of treatment, GFR measured by (99m) Tc-DTPA decreased significantly from 167 ± 46 mL/min/1.73 m(2) to 145 ± 27 mL/min/1.73 m(2) (P = 0.016). This decrease in GFR was significantly associated with increase in fetal hemoglobin (P = 0.042) and decrease in lactate dehydrogenase levels (P = 0.035). Urine microalbumin and cystatin C levels did not change significantly. Hydroxyurea at MTD is associated with a decrease in hyperfiltration in young children with SCA.Am. J. Hematol., 2012. © 2012 Wiley Periodicals, Inc. Copyright © 2012 Wiley Periodicals, Inc. PMID: 23255310 [PubMed - as supplied by publisher] 4. Pediatr Blood Cancer. 2012 Dec 19. doi: 10.1002/pbc.24413. [Epub ahead of print] High rates of recurrent biliary tract obstruction in children with sickle cell disease. Amoako MO, Casella JF, Strouse JJ. Johns Hopkins University School of Medicine, Baltimore, Maryland. Abstract BACKGROUND: Individuals with sickle cell disease (SCD) have an increased risk of cholelithiasis from bilirubin stones. Symptomatic biliary tract disease (BTD) includes acute and chronic cholecystitis, obstruction of the common bile duct (CBD), cholangitis, and gallstone pancreatitis. Cholecystectomy is the main treatment strategy for symptomatic patients; however, the prevalence of recurrent BTD following cholecystectomy has not been systematically evaluated. We conducted a retrospective cohort study to describe the recurrence of BTD after cholecystectomy and characterize risk factors for recurrent disease. PROCEDURE: We identified patients <22 years of age who presented to the Johns Hopkins Children Center with symptomatic BTD from July 1993 to June 2008. RESULTS: We identified 56 patients with a total of 76 episodes of symptomatic BTD (median age at first event 15.9, range 4.6-21.5 years). Eleven of the 56 patients (19.6%) had at least one episode of recurrent symptomatic BTD (median follow-up of 5.3 years). Baseline characteristics were similar between the patients with a single episode of BTD and those with recurrent BTD. CONCLUSIONS: These results demonstrate that recurrent BTD is a frequent complication of SCD (20% by age 4 years) and often presents as CBD obstruction by stone, despite cholecystectomy. In our cohort, recurrence was not associated with age at first episode, baseline total bilirubin, gender, or genotype of SCD. Pediatr Blood Cancer © 2012 Wiley Periodicals, Inc. Copyright © 2012 Wiley Periodicals, Inc. PMID: 23255346 [PubMed - as supplied by publisher] 5. Clin Transl Sci. 2012 Dec;5(6):437-44. doi: 10.1111/cts.12005. Epub 2012 Oct 17. Effect of propranolol as antiadhesive therapy in sickle cell disease. De Castro LM, Zennadi R, Jonassaint JC, Batchvarova M, Telen MJ. Duke Comprehensive Sickle Cell Center, Division of Hematology, Department of Medicine, Duke University, Durham, North Carolina, USA. Abstract Sickle red blood cells (SSRBCs) adhere to both endothelial cells (ECs) and the extracellular matrix. Epinephrine elevates cyclic adenosine monophosphate in SSRBCs and increases adhesion of SSRBCs to ECs in a β-adrenergic receptor and protein kinase A-dependent manner. Studies in vitro as well as in vivo have suggested that adrenergic stimuli like epinephrine may contribute to vaso-occlusion associated with physiologic stress. We conducted both animal studies and a Phase I dose-escalation study in sickle cell disease (SCD) patients to investigate whether systemically administered propranolol inhibits SSRBC adhesion and to document the safety of propranolol in SCD. Systemically administered propranolol prevented SSRBC adhesion and associated vaso-occlusion in a mouse model. In patients receiving a single oral dose of 10, 20, or 40 mg propranolol, SSRBC adhesion to ECs was studied before and after propranolol, with and without stimulation with epinephrine. Propranolol administration significantly reduced epinephrine-stimulated SSRBC adhesion in a dose dependent manner (p = 0.03), with maximum inhibition achieved at 40 mg. Adverse events were not severe, did not show dose dependence, and were likely unrelated to drug. No significant heart rate changes occurred. These results imply that β-blockers may have a role as antiadhesive therapy for SCD. Clin Trans Sci 2012; Volume 5: 437-444. © 2012 Wiley Periodicals, Inc. PMID: 23253664 [PubMed - in process] 6. Platelets. 2012 Dec 18. [Epub ahead of print] Circulating platelet and erythrocyte microparticles in young children and adolescents with sickle cell disease: Relation to cardiovascular complications. Tantawy AA, Adly AA, Ismail EA, Habeeb NM, Farouk A. Pediatrics Department, Faculty of Medicine, Ain Shams University , Cairo , Egypt. Abstract Sickle cell disease (SCD) is characterized by a complex vasculopathy, consisting of endothelial dysfunction and increased arterial stiffness, with a global effect on cardiovascular function. The hypercoagulable state may result from chronic hemolysis and circulating cell-derived microparticles (MPs) originating mainly from activated platelets and erythrocytes. We measured the levels of platelet and erythrocyte-derived MPs (PMPs and ErMPs) in 50 young SCD patients compared with 40 age- and sex-matched healthy controls and assessed their relation to clinicopathological characteristics and aortic elastic properties. Patients were studied stressing on the occurrence of sickling crisis, transfusion history, hydroxyurea therapy, hematological, and coagulation profile as well as flow cytometric expression of PMPs (CD41b(+)) and ErMPs (glycophorin A(+)). Echocardiography was performed to assess aortic stiffness and distensibility, left ventricular function and pulmonary artery pressure. Both PMPs and ErMPs were significantly elevated in SCD patients compared with control group (p < 0.001). SCD patients had significantly elevated D-dimer and von Willebrand factor antigen (vWF Ag) levels with lower antithrombin III compared with controls (p < 0.001). Aortic stiffness index and pulmonary artery pressure were significantly higher in SCD (p < 0.001), whereas aortic strain and aortic distensibility were significantly lower (p < 0.001) compared with controls. MPs levels were significantly increased in SCD patients with pulmonary hypertension, acute chest syndrome, and stroke as well as those who had history of thrombosis or splenectomy (p < 0.001). Also, patients in sickling crisis during the study had higher PMPs and ErMPs levels than those in steady state (p < 0.001). Patients on hydroxyurea therapy had lower MPs levels than untreated patients (p < 0.001). PMPs and ErMPs were positively correlated with disease duration, transfusion index, white blood cell count, HbS, markers of hemolysis, serum ferritin, D-dimer, and vWF Ag, whereas negatively correlated with hemoglobin and HbF levels (p < 0.05). Both PMPs and ErMPs levels were positively correlated with aortic stiffness, pulmonary artery pressure, and tricuspid regurgitant velocity (p < 0.05) while negatively correlated with aortic distensibility. We suggest that PMPs and ErMPs overproduction may be considered a potential biological marker for vascular dysfunction and disease severity in SCD and may be implicated in the pathogenesis of coagulation abnormalities encountered in those patients. Their levels are closely related to sickling crisis, pulmonary hypertension, markers of hemolysis, fibrinolysis, and iron overload. Therefore, quantification of MPs in SCD may provide utility for identifying patients who are at increased risk of thrombotic events or cardiovascular abnormalities and would help to monitor response to hydroxyurea therapy. PMID: 23249216 [PubMed - as supplied by publisher] 7. Clin J Pain. 2012 Dec 14. [Epub ahead of print] A Preliminary Study of Psychiatric, Familial, and Medical Characteristics of High-utilizing Sickle Cell Disease Patients. Carroll PC, Haywood C Jr, Hoot MR, Lanzkron S. *Department of Psychiatry and Behavioral Sciences †Department of Medicine, Division of Hematology, The Johns Hopkins School of Medicine ‡The Johns Hopkins Berman Institute of Bioethics, Baltimore, MA. Abstract OBJECTIVES:: To identify demographic, medical, and psychosocial characteristics that distinguished sickle cell disease (SCD) patients who were frequent utilizers of urgent or emergent care resources from low-utilizing patients. METHODS:: Patients at a large urban comprehensive SCD treatment center were recruited from clinic or during urgent care visits. Participants who were high utilizers, defined as having >4 acute or emergency care visits in the prior 12 months, were compared with patients with more typical utilization patterns on lifetime complications of SCD, family background, psychiatric history, occupational function, coping, depressive symptoms, and personality. RESULTS:: High utilizers were nearly a decade younger on average; despite this they had a similar lifetime history of SCD complications. High-utilizing patients' parents seemed to have greater educational achievement overall. High utilizers reported a nearly 3-fold greater prevalence of psychiatric illness in family members than low utilizers. On other measures, including coping strategies, social support, and personality, the 2 groups were comparable. DISCUSSION:: The study strengthens emerging evidence that disease severity, familial factors related to greater parental education, and psychiatric illness are important factors in high care utilization in patients with SCD. PMID: 23246997 [PubMed - as supplied by publisher] 8. Cochrane Database Syst Rev. 2012 Dec 12;12:CD007175. doi: 10.1002/14651858.CD007175.pub3. Antibiotics for treating osteomyelitis in people with sickle cell disease. Martí-Carvajal AJ, Agreda-Pérez LH. Facultad de Ciencias de la Salud Eugenio Espejo, Universidad Tecnológica Equinoccial, Quito, Ecuador. Abstract BACKGROUND: Osteomyelitis (both acute and chronic) is one of the most common infectious complications in people with sickle cell disease. There is no standardized approach to antibiotic therapy and treatment is likely to vary from country to country. Thus, there is a need to identify the efficacy and safety of different antibiotic treatment approaches for people with sickle cell disease suffering from osteomyelitis. OBJECTIVES: To determine whether an empirical antibiotic treatment approach (monotherapy or combination therapy) is effective and safe as compared to pathogen-directed antibiotic treatment and whether this effectiveness and safety is dependent on different treatment regimens, age or setting. SEARCH METHODS: We searched The Group's Haemoglobinopathies Trials Register, which comprises references identified from comprehensive electronic database searches and handsearching of relevant journals and abstract books of conference proceedings. We also searched the LILACS database (1982 to 2 November 2012), African Index Medicus (3 November 2012), ISI Web of Knowledge (3 November 2012) and World Health Organization International Clinical Trials Registry Platform (3 November 2012).Date of most recent search of the Group's Haemoglobinopathies Trials Register: 29 October 2012. SELECTION CRITERIA: We searched for published or unpublished randomised and quasi-randomised controlled trials. DATA COLLECTION AND ANALYSIS: Each author intended to independently extract data and assess trial quality by standard Cochrane Collaboration methodologies, but no eligible randomised controlled trials were identified. MAIN RESULTS: This update was unable to find any randomised or quasi-randomised controlled trials on antibiotic treatment approaches for osteomyelitis in people with sickle cell disease. AUTHORS' CONCLUSIONS: We were unable to identify any relevant trials on the efficacy and safety of the antibiotic treatment approaches for people with sickle cell disease suffering from osteomyelitis. Randomised controlled trials are needed to establish the optimum antibiotic treatment for this condition. PMID: 23235640 [PubMed - in process] 9. Cochrane Database Syst Rev. 2012 Dec 12;12:CD003968. doi: 10.1002/14651858.CD003968.pub3. Psychological therapies for the management of chronic and recurrent pain in children and adolescents. Eccleston C, Palermo TM, Williams AC, Lewandowski A, Morley S, Fisher E, Law E. Centre for Pain Research, The University of Bath, Claverton Down, Bath, UK, BA2 7AY. Abstract BACKGROUND: Chronic pain affects many children, who report severe pain, distressed mood, and disability. Psychological therapies are emerging as effective interventions to treat children with chronic or recurrent pain. This update adds recently published randomised controlled trials (RCTs) to the review published in 2009. OBJECTIVES: To assess the effectiveness of psychological therapies, principally cognitive behavioural therapy and behavioural therapy, for reducing pain, disability, and improving mood in children and adolescents with recurrent, episodic, or persistent pain. We also assessed the risk of bias and methodological quality of the included studies. SEARCH METHODS: Searches were undertaken of MEDLINE, EMBASE, and PsycLIT. We searched for RCTs in references of all identified studies, meta-analyses and reviews. Date of most recent search: March 2012. SELECTION CRITERIA: RCTs with at least 10 participants in each arm post-treatment comparing psychological therapies with active treatment were eligible for inclusion (waiting list or standard medical care) for children or adolescents with episodic, recurrent or persistent pain. DATA COLLECTION AND ANALYSIS: All included studies were analysed and the quality of the studies recorded. All treatments were combined into one class: psychological treatments; headache and non-headache outcomes were separately analysed on three outcomes: pain, disability, and mood. Data were extracted at two time points; post-treatment (immediately or the earliest data available following end of treatment) and at follow-up (at least three months after the post-treatment assessment point, but not more than 12 months). MAIN RESULTS: Eight studies were added in this update of the review, giving a total of 37 studies. The total number of participants completing treatments was 1938. Twenty-one studies addressed treatments for headache (including migraine); seven for abdominal pain; four included mixed pain conditions including headache pain, two for fibromyalgia, two for pain associated with sickle cell disease, and one for juvenile idiopathic arthritis. Analyses revealed five significant effects. Pain was found to improve for headache and non-headache groups at post-treatment, and for the headache group at follow-up. Mood significantly improved for the headache group at follow-up, although, this should be interpreted with caution as there were only two small studies entered into the analysis. Finally, disability significantly improved in the non-headache group at post-treatment. There were no other significant effects. AUTHORS' CONCLUSIONS: Psychological treatments are effective in reducing pain intensity for children and adolescents (<18 years) with headache and benefits from therapy appear to be maintained. Psychological treatments also improve pain and disability for children with non-headache pain. There is limited evidence available to estimate the effects of psychological therapies on mood for children and adolescents with headache and non-headache pain. There is also limited evidence to estimate the effects on disability in children with headache. These conclusions replicate and add to those of the previous review which found psychological therapies were effective in reducing pain intensity for children with headache and non-headache pain conditions, and these effects were maintained at follow-up. PMID: 23235601 [PubMed - in process] 10. Hematology Am Soc Hematol Educ Program. 2012;2012:290-1. doi: 10.1182/asheducation-2012.1.290. What is the evidence that hydroxyurea improves health-related quality of life in patients with sickle cell disease? Darbari DS, Panepinto JA. 1Division of Hematology, Center for Cancer and Blood Disorders, Children's National Medical Center, Washington, DC; and. Abstract A 10-year-old male patient with homozygous sickle cell disease presents for a follow-up clinic visit after a recent hospitalization for a painful vasoocclusive event. His parents mention that in the past year he has had 4 hospitalizations for vasoocclusive events, 2 of which were complicated by the development of acute chest syndrome that resulted in transfer to the intensive care unit. He has missed many school days and may be retained a grade this year. He feels particularly sad about missing the school field trip that occurred during his last hospitalization. He also reports that he is not able to keep up with his friends when participating in physical activities at school. The child's parents are worried that he may be depressed. You as the provider discuss the option of hydroxyurea therapy. His parents ask if hydroxyurea would improve his overall well-being and functioning. Free Article PMID: 23233594 [PubMed - in process] 11. Hematology Am Soc Hematol Educ Program. 2012;2012:284-9. doi: 10.1182/asheducation-2012.1.284. Health-related quality of life in patients with hemoglobinopathies. Panepinto JA. 1Department of Pediatrics, Section of Hematology/Oncology/Bone Marrow Transplantation, Children's Hospital of Wisconsin/Medical College of Wisconsin, Milwaukee, WI. Abstract The use of patient-reported outcomes to measure the health and well-being of patients from their perspective has become an acceptable method to determine the impact of a disease and its treatment on patients. In patients with hemoglobinopathies, prior work has demonstrated that patients experience significant impairment in health-related quality of life (HRQL, a type of patient-reported outcome). This work has provided a better understanding of the burden that these patients experience and the factors that are associated with worse HRQL. The recent development of disease-specific HRQL instruments in sickle cell disease heralds new opportunities to explore the impact of the disease and its treatment on patients. The standards necessary to incorporate the measurement of HRQL into clinical trials are now well outlined by regulatory agencies. Measuring HRQL within a clinical practice setting and outside of the healthcare setting while the patient is at home are now possible and present new opportunities to understand the health and well-being of patients with hemoglobinopathies. Free Article PMID: 23233593 [PubMed - in process] 12. Hematology Am Soc Hematol Educ Program. 2012;2012:276-83. doi: 10.1182/asheducation-2012.1.276. Advances in stem cell transplantation and gene therapy in the β-hemoglobinopathies. Payen E, Leboulch P. 1Commissariat a l'Energie Atomique, Institute of Emerging Diseases and Innovative Therapies, Fontenay aux Roses, France; Abstract High-level production of β-globin, γ-globin, or therapeutic mutant globins in the RBC lineage by hematopoietic stem cell gene therapy ameliorates or cures the hemoglobinopathies sickle cell disease and beta thalassemia, which are major causes of morbidity and mortality worldwide. Considerable efforts have been made in the last 2 decades in devising suitable gene-transfer vectors and protocols to achieve this goal. Five years ago, the first β(E)/β(0)-thalassemia major (transfusion-dependent) patient was treated by globin lentiviral gene therapy without injection of backup cells. This patient has become completely transfusion independent for the past 4 years and has global amelioration of the thalassemic phenotype. Partial clonal dominance for an intragenic site (HMGA2) of chromosomal integration of the vector was observed in this patient without a loss of hematopoietic homeostasis. Other patients are now receiving transplantations while researchers are carefully weighing the benefit/risk ratio and continuing the development of further modified vectors and protocols to improve outcomes further with respect to safety and efficacy. Free Article PMID: 23233592 [PubMed - in process] 13. Hematology Am Soc Hematol Educ Program. 2012;2012:271-5. doi: 10.1182/asheducation-2012.1.271. Emerging 'A' therapies in hemoglobinopathies: agonists, antagonists, antioxidants, and arginine. Vichinsky E. 1Hematology/Oncology, Children's Hospital and Research Center Oakland, Oakland, CA. Abstract Sickle cell disease and thalassemia have distinctly different mutations, but both share common complications from a chronic vasculopathy. In the past, fetal hemoglobin-modulating drugs have been the main focus of new therapy, but the increased understanding of the complex pathophysiology of these diseases has led to the development of novel agents targeting multiple pathways that cause vascular injury. This review explores the pathophysiology of hemoglobinopathies and novel drugs that have reached phase 1 and 2 clinical trials. Therapies that alter cellular adhesion to endothelium, inflammation, nitric oxide dysregulation, oxidative injury, altered iron metabolism, and hematopoiesis will be highlighted. To evaluate these therapies optimally, recommendations for improving clinical trial design in hemoglobinopathies are discussed. Free Article PMID: 23233591 [PubMed - in process] 14. Hematology Am Soc Hematol Educ Program. 2012;2012:208-14. doi: 10.1182/asheducation-2012.1.208. Baby on board: what you need to know about pregnancy in the hemoglobinopathies. Naik RP, Lanzkron S. 1Department of Medicine, Division of Hematology, Johns Hopkins University, Baltimore, MD. Abstract Pregnancy poses a unique challenge to patients with sickle cell disease and β-thalassemia, who often have exacerbations of hemolysis or anemia during the gestational period, experience higher rates of obstetric and fetal complications, and may have distinct underlying comorbidities related to vasculopathy and iron overload that can endanger maternal health. Optimal management of pregnant women with hemoglobinopathies requires both an understanding of the physiologic demands of pregnancy and the pathophysiology of disease-specific complications of inherited blood disorders. A multidisciplinary team of expert hematologists and high-risk obstetricians is therefore essential to ensuring appropriate antenatal maternal screening, adequate fetal surveillance, and early recognition of complications. Fortunately, with integrated and targeted care, most women with sickle cell disease and β-thalassemia can achieve successful pregnancy outcomes. Free Article PMID: 23233583 [PubMed - in process] 15. Hemoglobin. 2012 Dec 7. [Epub ahead of print] Safety And Efficacy Of 4 Years Of Deferasirox Treatment For Sickle Cell Disease Patients. Vlachaki E, Mainou M, Bekiari E, Vetsiou E, Tsapas A. Thalassemia Unit, Second Medical Department, Hippokratio General Hospital, Aristotle University Thessaloniki , Greece. Abstract Deferasirox (DFRA) is a novel oral chelator agent for treatment of iron overload. Although well established in the treatment of β-thalassemia major (β-TM), it has not yet been fully investigated in patients with sickle cell disease. The aim of this report is to present the preliminary results of a pilot study assessing the effect of 4 years of DFRA treatment in six patients with sickle cell disease who are in need of recurrent transfusions. Our results show a significant reduction of ferritin levels and improvement of liver hemosiderosis, assessed by means of magnetic resonance imaging T2* (MRI T2*). None of the patients presented any serious adverse effects and the treatment was well tolerated. These results are in accordance with previous studies about the use of DFRA in sickle cell disease. PMID: 23215738 [PubMed - as supplied by publisher] 16. J Pediatr Hematol Oncol. 2012 Nov 30. [Epub ahead of print] The Other Side of Abnormal: A Case Series of Low Transcranial Doppler Velocities Associated With Stroke in Children With Sickle Cell Disease. Buchanan ID, James-Herry A, Osunkwo I. *Morehouse School of Medicine, Department of Pediatrics ‡Division of Hematology/Oncology, Department of Pediatrics, Emory University §Aflac Cancer Center and Blood Disorder Services of Children Healthcare of Atlanta †Sickle Cell Consortium, Atlanta, GA. Abstract The prevalence of cerebrovascular events in sickle cell disease (SCD) can be as low as 10% by the age of 18 for overt cerebral infarction or strokes, up to 35% for silent cerebral infarction, and as high as 43/100 patient years for acute silent cerebral ischemic events. These events typically occur during childhood with a peak incidence between the age of 4 and 7 years. The cumulative risk of central nervous system events in SCD increases with age. Transcranial Doppler (TCD) ultrasonography is an established screening tool for detecting children with SCD at highest risk for stroke by measuring the flow velocity in the large intracranial vessels. Velocities are considered abnormal with readings >200 cm/s and chronic red cell transfusions are recommended to reduce further risk or progression. Red cell transfusions have reduced the rate of cerebrovascular accidents by 90%. We describe the case of 5 children with sickle cell anemia, whose antecedent screening TCD velocities were measured to be ≤70 cm/s in the study. All patients developed some form of cerebral insults, an overt cerebral infarctions, silent stroke or transient ischemic attack, and are now receiving chronic transfusion to prevent further progression. On the basis of these cases, low TCD velocities may identify another group of children at risk for cerebrovascular disease. We suggest TCD velocities <70 cm/s in major vessels (MCA, ACA, and ICA) be considered another type of "abnormal," prompting more sensitive evaluations (such as a brain MRI and MRA) for the presence of central nervous system disease, and, if negative, decrease intervals between subsequent TCD assessments. PMID: 23211694 [PubMed - as supplied by publisher] Related citations 17. Pediatr Blood Cancer. 2012 Nov 28. doi: 10.1002/pbc.24395. [Epub ahead of print] ... [Message clipped] View entire message YouTube - Videos from this email Reply Reply to all Forward Click here to Reply, Reply to all, or Forward Sickle Cell News for November 2012 Sickle cell anemia: maps and newborn estimates In 2010 around 300,000 babies were born with sickle cell anaemia, a serious blood disorder which can be fatal if untreated, and 5.5 million newborns inherited the sickle cell gene, a new study suggests. The 5.5 million who only inherit the gene will usually not present any clinical complications, these individuals could still pass this gene on to their offspring and give birth to babies suffering from sickle cell anaemia. Accurate estimates of the numbers and geographical distribution of those affected is vital for effective prevention and treatment policies to be put in place. The research by the Malaria Atlas Project (MAP; http://www.map.ox.ac.uk), a multinational team of researchers funded mainly by the Wellcome Trust, maps the geographical contemporary distribution of sickle haemoglobin - a genetic disorder causing sickle cell anaemia. It also estimates the number of newborns affected by this condition.Historically, the sickle cell gene (haemoglobin S or HbS) was common in people of African, Mediterranean and Indian origin but, following human migrations, it is now much more widespread. The MAP team's estimates suggest that about half of the affected newborns are born in Nigeria, the Democratic Republic of the Congo, and India, but important uncertainties remain in large parts of these countries due to a lack of data. An image showing areas with high predicted frequencies of sickle haemoglobin [credit: MAP] Dr Fred Piel from Oxford University's Department of Zoology, who led the research, said: "Sickle cell disease has now been studied intensively for more than a hundred years but our knowledge about its current distribution and burden is really poor. Our aim was to use available evidence-based epidemiological data from the literature combined with modern mapping and modelling methods to come up with the best maps and estimates. In the future, we hope that accessing additional data, including from national screening programmes, would help further refine these results." This study provides the first rigorous assessment of the contemporary distribution of this disorder and uses state-of-the-art methodology to estimate the number of newborns affected globally, regionally and nationally. The team was inspired by work conducted by Frank B Livingstone, in the 1970s and 80s. Although ageing, his global database on inherited blood disorder frequencies still represents a unique resource. There is growing awareness about the burden of genetic blood disorders, sickle cell disease in particular, and it is crucial for public health policy makers to access evidence-based quantitative epidemiological data allowing the assessment of the current situation and to measure changes in the future. The data will be released in open access on the MAP website (www.map.ox.ac.uk).Professor Sir David Weatherall, who has shared his unique expertise in the field and provided exceptional support to this project, said: "The inherited haemoglobin disorders, notably sickle cell disease and the different forms of thalassaemia, are by far the commonest monogenic diseases and the vast majority of births affected occur in low or middle income countries. Previous work suggested that their distribution varied considerably even within short geographical distances and data regarding their true frequency is extremely difficult to obtain. Hitherto, they have been largely ignored by the international health community and it is absolutely vital that better information is obtained regarding their true frequency so that their control and better management can be achieved, particularly in the developing countries where they are so common. The impressive work described in this paper provides an invaluable base for future work of this kind." For further information visit http://www.map.ox.ac.uk or contact Dr Fred Piel of Oxford University on +44 (0)1865 271 132 or email fred.piel@zoo.ox.ac.uk or Professor Simon Hay of Oxford University on +44 (0)1865 271 243 or email simon.hay@zoo.ox.ac.uk. Sickle Cell Transplants Could See Wider UseNY Times article - CDC committee recommends HibMenCY for infantsThe Centers for Disease Control and Prevention’s Advisory Committee for Immunization Practices voted on October 24 to recommend a meningococcal vaccination for infants at increased risk of contracting the disease.The committee recommended that infants with anatomic or functional asplenia, including sickle cell disease, or with recognized persistent complement pathway deficiencies receive the HibMenCY meningococcal vaccine. The recommended vaccination practice includes four doses of the vaccine at two, four, six and 12 through 15 months.The vaccine can be used in infants ages two through 18 months who live in communities with serogroup Y and C meningococcal disease outbreaks.“The ACIP meningococcal vaccine working group concluded that the recently licensed HibMenCY infant vaccine should be routinely given to those infants at high risk for meningococcal disease due to certain immunocompromising conditions,” Alison Patti, a representative with the CDC, said. “Now that this vaccine is available, it made clinical and public health sense to routinely administer it to high risk infants. Before HibMenCY, no infant meningococcal vaccine was available.”ACIP’s recommendations were forwarded to the CDC’s director for approval. If approved, the recommendations will represent the official CDC recommendations for U.S. immunizations. Until that time, the recommendations are considered provisional.Meningococcal disease is a vaccine-preventable and serious bacterial infection caused by Neisseria meningitis bacteria. The two most common illnesses caused by the bacteria include bloodstream infections and meningitis. Infants with medical conditions like a complement component deficiency or sickle cell disease are at increased meningococcal disease risk.“It’s estimated that 5,000 kids per year will get HibMenCY vaccine through this high risk recommendation,” Patti said. “Most of these children are at lifelong risk for meningococcal disease, so they can now be protected younger than ever before.”Video ResourcesNew Webinar Posted for November10/25/12 Webinar - Strategies from the Field – Data Collection and Harmonization CDC’s Division of Blood Disorders and RuSH Project StatesThe video link is mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDCdatacollection.wmvSee all the previous CDC Sickle Cell Webinars and instructions to view or listen to future events see: http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-healthWe would appreciate your feedback on this year’s “Public Health Webinar Series on Hemoglobinopathies” hosted by the Division of Blood Disorders, CDCby completing a brief online survey: http://www.surveymonkey.com/s/M986NWM Please forward the survey link to colleagues who participated on this webinar series as a group.Your feedback is valuable and will help us improve the series for 2013.Thank you for your participation! CDC Web based Sickle Cell ResourcesCDC’s YouTube Link: http://www.youtube.com/watch?v=gnrvYsZWR1c&list=UUiMg06DjcUk5FRiM3g5sqoQ&index=2&feature=plpp_video CDC Video Archive (you can get the video code from this site and embed the video on another webpage, or download it): http://www.cdc.gov/NCBDDD/video/SickleCell/index.html CDC Sickle Cell Disease Webpage: http://wwwdev.cdc.gov/NCBDDD/sicklecell/video.html Articles in the Medical Literature for November1. Mediterr J Hematol Infect Dis. 2012;4(1):e2012065. doi: 10.4084/MJHID.2012.065. Epub 2012 Oct 3.Sickle cell anaemia and malaria.Luzzatto L.Honorary Professor of Haematology, University of Florence, Scientific Director, Istituto Toscano Tumori. Firenze. Italy.AbstractSickle cell anaemia is a major chapter within haemolytic anaemias; at the same time, its epidemiology is a remarkable signature of the past and present world distribution of Plasmodium falciparum malaria. In this brief review, in keeping with the theme of this journal, we focus on the close and complex relationship betweeen this blood disease and this infectious disease. On one hand, heterozygotes for the sickle gene (AS) are relatively protected against the danger of dying of malaria, as now firmly established through a number of clinical field studies from different parts of Africa. In addition, experimental work is consistent with a plausibile mechanism: namely, that in AS heterozygotes P falciparum-infected red cells sickle preferentially and are then removed by macrophages. On the other hand, patients who are homozygous for the sickle gene and therefore suffer from sickle cell anaemia (SCA) are highly susceptible to the lethal effects of malaria. The simplest explanation of this fact is that malaria makes the anaemia of SCA more severe; in addition, in SCA there is often hyposplenism, which reduces clearance of parasites. From the point of view of public health it is important that in malaria-endemic countries patients with SCA, and particularly children, be protected from malaria by appropriate prophylaxis.PMCID: PMC3499995 Free PMC Article PMID: 23170194 [PubMed - in process] Related citations 2. J Hosp Med. 2012 Nov 20. doi: 10.1002/jhm.1987. [Epub ahead of print]"I'm Talking About Pain": Sickle cell disease patients with extremely high hospital use.Weisberg D, Balf-Soran G, Becker W, Brown SE, Sledge W.Department of Psychiatry, Yale University School of Medicine, New Haven, Connecticut.AbstractBACKGROUND: A small minority of sickle cell disease patients accounts for the majority of inpatient hospital days. Admitted as often as several times a month, over successive years, this cohort of patients has not been studied in depth despite their disproportionate contribution to inpatient hospital costs in sickle cell disease.OBJECTIVE: To characterize the subjective experience of extremely high hospital use in patients with sickle cell disease, and generate hypotheses about the antecedents and consequences of this phenomenon.DESIGN: Qualitative study involving in-depth, open-ended interviews using a standardized interview guide.SETTING: A single urban academic medical center.PARTICIPANTS: Eight individuals, of varying age and gender, identified as the sickle cell disease patients who are among the highest hospital use patients over a 3-year period.RESULTS: A common narrative emerged from the interview transcripts. Participants were exposed to the hospital environment and intravenous (IV) opioids at a young age, and this exposure was associated with extremely high hospital use in adulthood, evident in descriptions of multiple dimensions of their lives: pain and opioid medication use, interpersonal relationships, and personal development.CONCLUSIONS: Our results suggest a systematic, self-reinforcing process of isolation from mainstream society, support structures, and caregivers, based on increasing hospitalization, growing dependency on opioid medications, as well as missed developmental milestones. Further study and interventions should be geared towards breaking this spiraling cycle with long-term strategies in disease management and social integration. Journal of Hospital Medicine 2012; © 2012 Society of Hospital Medicine.Copyright © 2012 Society of Hospital Medicine. PMID: 23169484 [PubMed - as supplied by publisher] Related citations 3. Cochrane Database Syst Rev. 2012 Nov 14;11:CD008394. doi: 10.1002/14651858.CD008394.pub2.Interventions for treating leg ulcers in people with sickle cell disease.Martí-Carvajal AJ, Knight-Madden JM, Martinez-Zapata MJ.Facultad de Ciencias de la Salud Eugenio Espejo, Universidad Tecnológica Equinoccial, Quito, Ecuador.AbstractBACKGROUND: The frequency of skin ulceration makes it an important contributor to the morbidity burden in people with sickle cell disease. Many treatment options are available to the healthcare professional, although it is uncertain which treatments have been assessed for effectiveness in people with sickle cell disease.OBJECTIVES: To assess the clinical effectiveness and safety of interventions for treating leg ulcers in people with sickle cell disease.SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Haemoglobinopathies Trials Register.We searched LILACS (1982 to August 2012), the African Index Medicus (up to August 2012), ISI Web of Knowledge (1985 to August 2012), and the Clinical Trials Search Portal of the World Health Organization (August 2012). We checked the reference lists of all the trials identified. We also contacted those groups or individuals who may have completed relevant randomised trials in this area.Date of the last search of the Group's Haemoglobinopathies Trials Register: 25 May 2012.SELECTION CRITERIA: Randomised controlled trials of interventions for treating leg ulcers in people with sickle cell disease compared to placebo or an alternative treatment.DATA COLLECTION AND ANALYSIS: Two authors independently selected studies for inclusion. All three authors independently assessed the risk of bias of the included studies and extracted data.MAIN RESULTS: Six studies met the inclusion criteria (198 participants with 250 ulcers). Each trial investigated a different intervention and within this review we have grouped these as systemic pharmaceutical interventions (L-cartinine, arginine butyrate, isoxsuprine) and topical pharmaceutical interventions (Solcoseryl(®) cream, RGD peptide dressing, topical antibiotics). Three interventions reported on the change in ulcer size (arginine butyrate, RGD peptide, L-cartinine). Of these, RGD peptide matrix significantly reduced ulcer size compared with a control group, mean reduction 6.60cm(2) (95% CI 5.51 to 7.69). Three trials reported on the incidence of complete closure (isoxsuprine, arginine butyrate, RGD peptide matrix). None reported a significant effect. No trial reported on: the time to complete ulcer healing; ulcer-free survival following treatment for sickle cell leg ulcers; quality of life measures; or incidence of amputation. There was no reported information on the safety of these interventions.AUTHORS' CONCLUSIONS: There is evidence that a topical intervention (RGD peptide matrix) reduced ulcer size in treated participants compared to controls. This evidence of efficacy is limited by the generally high risk of bias associated with these reports.We planned to analyse results according to general groups: pharmaceutical interventions (systemic and topical); and non-pharmaceutical interventions (surgical and non-surgical). However, we were unable to pool findings due to the heterogeneity in outcome definitions, and inconsistency between the unit of randomisation and the unit of analysis. This heterogeneity, along with a paucity of identified trials, prevented us performing any meta-analyses.This Cochrane review provides some evidence for the effectiveness of one topical intervention - RGD peptide matrix. However, this intervention was assessed as having a high risk of bias due to inadequacies in the single trial report. Other included studies were also assessed as having a high risk of bias. We recommend that readers interpret the trial results with caution. The safety profile of the all interventions was inconclusive. PMID: 23152256 [PubMed - in process] Related citations 4. Cochrane Database Syst Rev. 2012 Nov 14;11:CD007652. doi: 10.1002/14651858.CD007652.pub3.Gene therapy for sickle cell disease.Olowoyeye A, Okwundu CI.Lagos University Teaching Hospital, P.O.Box 8893 Marina, Lagos, Nigeria.AbstractBACKGROUND: Sickle cell disease encompasses a group of genetic disorders characterized by the presence of at least one hemoglobin S (Hb S) allele, and a second abnormal allele that could allow abnormal hemoglobin polymerisation leading to a symptomatic disorder.Autosomal recessive disorders (such as sickle cell disease) are good candidates for gene therapy because a normal phenotype can be restored in diseased cells with only a single normal copy of the mutant gene.OBJECTIVES: The objectives of this review are:- to determine whether gene therapy can improve survival and prevent symptoms and complications associated with sickle cell disease;- to examine the risks of gene therapy against the potential long-term gain for people with sickle cell disease.SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Haemoglobinopathies Trials Register, which comprises of references identified from comprehensive electronic database searches and searching relevant journals and abstract books of conference proceedings.Date of the most recent search of the Group's Haemoglobinopathies Trials Register: 21 June 2012.SELECTION CRITERIA: All randomised or quasi-randomised clinical trials (including any relevant phase 1, 2 or 3 trials) of gene therapy for all individuals with sickle cell disease, regardless of age or setting.DATA COLLECTION AND ANALYSIS: No trials of gene therapy for sickle cell disease were found.MAIN RESULTS: No trials of gene therapy for sickle cell disease were reported.AUTHORS' CONCLUSIONS: No randomised or quasi-randomised clinical trials of gene therapy for sickle cell disease were reported. Thus, no objective conclusions or recommendations in practice can be made on gene therapy for sickle cell disease. This systematic review has identified the need for well-designed, randomised controlled trials to assess the benefits and risks of gene therapy for sickle cell disease. PMID: 23152248 [PubMed - in process] Related citations 5. Pediatr Blood Cancer. 2012 Nov 14. doi: 10.1002/pbc.24394. [Epub ahead of print]Mental health disorders influence admission rates for pain in children with sickle cell disease.Myrvik MP, Burks LM, Hoffman RG, Dasgupta M, Panepinto JA.Department of Pediatrics, Hematology/Oncology/Bone Marrow Transplantation, Children's Research Institute/Medical College of Wisconsin, Milwaukee, Wisconsin. mmyrvik@mcw.edu.AbstractBACKGROUND: Patients with sickle cell disease (SCD) experience a broad range of mental health disorders placing them at risk for more complicated hospitalizations for pain. The current study examined the impact of mental health disorders on admission rates and hospital length of stay (LOS) for vaso-occlusive pain events (VOE) in pediatric patients with SCD.PROCEDURE: Patients (5-18 years old) with a primary discharge diagnosis of SCD with crisis were acquired through the Pediatric Health Information System and categorized by history of mental health disorders (mood disorder, anxiety disorder, disruptive behavior disorder, and substance use disorder). Using a retrospective cohort design, hospital admission rates for VOE were examined as the primary outcome and LOS as a secondary outcome.RESULTS: A total of 5,825 patients accounted for 23,561 admissions for SCD with crisis with approximately 8% of the patients having a mental health diagnosis. Longer LOS was found among patients with a history of any mental health diagnosis (P < 0.0001) and within the mood disorder (P < 0.0001), anxiety disorder (P < 0.0001), and substance use disorder (P = 0.01) subtypes. Hospital admissions rates for VOE were higher among patients with a history of any mental health diagnosis (P < 0.0001) and within the mood disorder (P < 0.0001), anxiety disorder (P < 0.0001), disruptive behavior disorder (P = 0.002), and substance use disorder (P < 0.0001) subtypes.CONCLUSIONS: Pediatric patients with SCD and a history of a mental health diagnosis have longer LOS and higher admission rates for management of VOE. Ultimately, these findings suggest that mental health pose a challenge to the management of sickle cell pain. Pediatr Blood Cancer © 2012 Wiley Periodicals, Inc.Copyright © 2012 Wiley Periodicals, Inc. PMID: 23151972 [PubMed - as supplied by publisher] Related citations 6. Pediatr Blood Cancer. 2012 Nov 14. doi: 10.1002/pbc.24392. [Epub ahead of print]National trends in incidence rates of hospitalization for stroke in children with sickle cell disease.McCavit TL, Xuan L, Zhang S, Flores G, Quinn CT.Division of Pediatric Hematology-Oncology, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas; Children's Medical Center Dallas, Dallas, Texas. tim.mccavit@childrens.com.AbstractBACKGROUND: The success of primary stroke prevention for children with sickle cell disease (SCD) throughout the United States is unknown. Therefore, we aimed to generate national incidence rates of hospitalization for stroke in children with sickle cell disease (SCD) before and after publication of the Stroke Prevention Trial in Sickle Cell Anemia (STOP trial) in 1998.PROCEDURE: We performed a retrospective trend analysis of the 1993-2009 Nationwide Inpatient Sample and Kids' Inpatient Databases. Hospitalizations for SCD patients 0-18 years old with stroke were identified by ICD-9CM code. The primary outcome, the trend in annual incidence rate of hospitalization for stroke in children with SCD, was analyzed by linear regression. Incidence rates of hospitalization for stroke before and after 1998 were compared by the Wilcoxon rank-sum test.RESULTS: From 1993 to 2009, 2,024 hospitalizations were identified for stroke. Using the mean annual incidence rate of hospitalization for stroke from 1993 to 1998 as the baseline, the rate decreased from 1993 to 2009 (point estimate = -0.022/100 patient years [95% CI, -0.039, -0.005], P = 0.027). The mean annual incidence rate of hospitalization stroke decreased by 45% from 0.51 per 100 patient years in 1993-1998 to 0.28 per 100 patient years in 1999-2009 (P = 0.008). Total hospital days and charges attributed to stroke also decreased by 45% and 24%, respectively.CONCLUSIONS: After publication of the STOP trial and hydroxyurea licensure in 1998, the incidence of hospitalization for stroke in children with SCD decreased across the United States, suggesting that primary stroke prevention has been effective nationwide, but opportunity for improvement remains. Pediatr Blood Cancer © 2012 Wiley Periodicals, Inc.Copyright © 2012 Wiley Periodicals, Inc. PMID: 23151905 [PubMed - as supplied by publisher] Related citations Sickle Cell News for October 2012 Researchers identify painful symptoms of sickle cell disease Researchers at Drexel University have identified the physical forces in red blood cells and blood vessels underlying the painful symptoms of sickle cell disease. Their experiment, the first to answer a scientific question about sickle cell disease using microfluidics engineering methods, may help future researchers better determine who is at greatest risk of harm from the disease. They report their findings in Cell Press'sBiophysical Journal today. Like many scientific questions, this discovery began with a mystery. Normal, healthy red blood cells are extremely flexible, squeezing and slipping through blood vessels with ease, even passing through the smallest capillaries that are narrower than the red blood cells themselves. But in sickle cell disease, red blood cells are prone to deforming and turning rigid while flowing through the body. A seemingly logical explanation for sickle cell disease was that its symptoms - painful episodes and organ damage caused by oxygen deprivation - resulted from the rigid sickle cells forming inside narrow capillaries and then getting stuck there. In fact, sickle cells do not get stuck inside capillaries. The symptoms of sickle cell disease come from partial obstructions in slightly wider blood vessels farther downstream-vessels wide enough that sickle cells should be wide enough to flow through. The mystery, then, was why? How do wide, rigid cells regularly pass through the narrowest channels without getting stuck?http://www.news-medical.net/news/20121018/Researchers-identify-painful-symptoms-of-sickle-cell-disease.aspx 1% Of Kuwait Population Has Sickle Cell Disease DESPITE its being one of the most commonly inherited genetic disorders on earth, there is a far-reaching lack of awareness of Sickle Cell Disease and its effects, in a case where awareness may be all it takes to for the prevention of potentially tragic results. Moreover, being that SCD is common around tropics where malaria is prevalent, the Arabian Peninsula is one of the areas commonly afflicted with SCD, with a rate of approximately 1% of the Kuwait population suffering -- in many cases unknowingly -- from the disease. New Day Hospital in UK After years of planning, Thursday 18 October sees the opening of a day care centre at Homerton Hospital for sufferers of both Sickle Cell Anemia and Thassalmania. It’s the most serious of inherited conditions in the UK, yet it is the least known about and Homerton Hospital already manages over 300 local patients with the condition, while providing advice and support for those who aren’t themselves affected but ‘carry’ the condition, and could pass it on to their children. In England alone, there are approximately 12,500 people who suffer from this disease and an estimated 240,000 carriers of sickle cell in England http://www.hackneyhive.co.uk/index/2012/10/homerton-hospital-to-open-sickle-cell-day-care-centre/ New Sickle Cell Clinic in Missouri University of Missouri Health Care is opening a new clinic to treat patients with sickle cell disease. The clinic will be open the second and fourth Thursdays of every month. Sickle cell is a genetic disease where red blood cells are in short supply. According to Children’s Mercy Hospital, most of the treatment centers are aimed toward children. Elizabeth Gunier, a sickle cell coordinator at Women's and Children's Hospital's blood disorder and cancer unit, says the new clinic is specifically for adults. “This is the first time since I’ve been here that we are able to set up an adult clinic, just specifically for them," she says. "It’s something that’s been in the works, something that everybody’s wanted to do.” The clinic is set to open at Ellis Fischel Cancer Center on Oct. 25, 2012. It is the first such clinic in Columbia. Others are located in St. Louis and Kansas City Tionne "T-Boz" Watkins, a member of the 1990s R&B trio TLC, is getting her own reality show, TMZ reports. The show, called Totally T-Boz, will showcase Watkins juggling being a single mom with attempting to re-launch her music career, sources tell TMZ . The show will air on (what else?) TLC, which has reportedly ordered four episodes. Watkins was diagnosed with sickle-cell anemia as a child and is a spokesperson for the Sickle Cell Disease Association of America. In 2006, she discovered that she had a potentially fatal brain tumor, which was removed in 2009. After the surgery, Watkins underwent therapy to re-learn how to walk and talk, according to TMZ. Watkins filed for bankruptcy protection twice in 2011, but TLC recently announced plans for a reunion tour that will feature a hologram of Lisa "Left-Eye" Lopes, who died in a car accident in 2002. http://www.tvguide.com/News/TLCs-Boz-Reality-Show-1054028.aspx Video Resources New Webinar Posted for October :Improving Quality of Care for Sickle Cell Pediatrics in the Emergency Department Dr. James Moses, Boston Medical Center 9/27/12 The video link is mms://realaudio.service.emory.edu/SOM/PA/PLATT/SICKLE/CDCMoses.wmv Schedule of Free CDC 2012 Webinars “Public Health Webinar Series on Hemoglobinopathies” Hosted by: The Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities (NCBDDD), Centers for Disease Control and Prevention (CDC) 4th Thursday of every month from 2:00PM – 3:00PM ET The purpose of this webinar series is to offer a hemoglobinopathies learning collaborative platform for providers, consumers, educators, and scientists. Hemoglobinopathy Webinars are archived at http://scinfo.org To Join The Webinar Copy this address and paste it into your web browser:https://www.livemeeting.com/cc/cdc/join Copy and paste the required meeting ID: 84QK2D and click “join”. First Time Users: To save time before the meeting, check your system to make sure it is ready to use Microsoft Office Live Meeting. To hear the presentation you must call in to the number below. For Audio Dial 1-877-953-6706 and enter participant code: 9706616 If you are unable to join us on the internet for viewing, you are welcome to call in for audio access only. Participants outside the United States must be able to access 800 numbers to the US. Otherwise, please RSVP the location and number of participants for alternative international conference line access. 10/25: Strategies from the Field – Data Collection and HarmonizationCDC’s Division of Blood Disorders and RuSH Project States November/December: --- No Webinars--- See all the previous CDC Sickle Cell Webinars and instructions to view or listen to future events see: http://scinfo.org/world-wide-resources/cdc-webinars-hemoglobinopathies-and-public-health New Web Resource NHS Sickle Cell and Thalassaemia Screening Programme Resources Adult Carrier Leaflets: Adults who attend antenatal screening will receive an Adult Carrier Leaflet with information about being a carrier of a significant haemoglobin variant to assist them in their understanding of their haemoglobin carrier status. These leaflets can be used in an antenatal setting as well as in other settings such as in a GP surgery or other healthcare centres. The leaflets cover the carrier states Hb AS, Hb AC, Hb AD, Hb AE, Beta Thalassaemia, Delta beta thalassaemia, O Arab, and Hb Lepore and can be downloaded at sct.screening.nhs.uk/adultcarrierleaflets NICE Guidelines: The Sickle Cell Acute Painful Episode are published and are available on the National Institute for Health and Clinical Excellence (NICE) websitehttp://www.nice.org.uk/CG143 You can find the consultation comments and responses on this page:http://guidance.nice.org.uk/CG/Wave24/6 See all the publications at http://sct.screening.nhs.uk/ CDC Web based Sickle Cell Resources CDC’s YouTube Link: http://www.youtube.com/watch?v=gnrvYsZWR1c&list=UUiMg06DjcUk5FRiM3g5sqoQ&index=2&feature=plpp_video CDC Video Archive (you can get the video code from this site and embed the video on another webpage, or download it):http://www.cdc.gov/NCBDDD/video/SickleCell/index.html CDC Sickle Cell Disease Webpage: http://wwwdev.cdc.gov/NCBDDD/sicklecell/video.html Articles in the Medical Literature for October 1. Bone. 2012 Oct 13. pii: S8756-3282(12)01312-9. doi: 10.1016/j.bone.2012.10.005. [Epub ahead of print] Relationship between vitamin D deficiency and bone fragility in sickle cell disease: A cohort study of 56 adults. Arlet JB, Courbebaisse M, Chatellier G, Eladari D, Souberbielle JC,Friedlander G, de Montalembert M, Prié D, Pouchot J, Ribeil JA. Source Service de médecine interne, Faculté de médecine Paris Descartes, Sorbonne Paris-Cité et Assistance publique - hôpitaux de Paris, hôpital européen Georges Pompidou, 75908 Paris, France. Electronic address:jean-benoit.arlet@egp.aphp.fr. Abstract BACKGROUND: Recent studies suggest that patients with sickle cell disease (SCD) have profound vitamin D (VD) deficiency. Limited data exist on the effect of VD deficiency on bone fragility in these patients. OBJECTIVES: To assess the prevalence of VD deficiency in adults with SCD and its consequences on bone metabolism and fragility. METHODS: This prospective study included 56 SCD adult patients (mean age 29.8±9.5years), in a clinically steady state. Clinical and laboratory data were recorded. Bone mineral density (BMD) was measured using dual X-ray absorptiometry. Fracture history, BMD, avascular osteonecrosis, H-shaped vertebra and markers of mineral metabolism were compared between two groups of patients presenting very low (≤6ng/ml, n=26) (group 1) and low (>6ng/ml, n=26) (group 2) 25(OH)D concentration, respectively. RESULTS: Median 25(OH)D concentration was 6ng/mL. VD deficiency (25(OH)D <10ng/mL) was found in 42 out of 56 patients (75%) and secondary hyperparathyroidism in 40 (71.4%). History of fracture was documented in 17 patients (30.3%), osteopenia and/or ospeoporosis in 39.6% of patients. Overall, patients of group 1 were more likely to have sustained a fracture (42.8%) compared to patients of group 2 (17.8%) (p=0.04). These patients had also lower body mass index and significantly higher parathyroid hormone, C-terminal telopeptides of type I-collagen and bone-specific alkaline phosphatase serum levels. There was no difference between group for BMD, avascular osteonecrosis history, H-shaped vertebra, and disease severity markers. CONCLUSION: This study suggests that VD deficiency is a key feature in SCD-bone disease. It is highly prevalent and associated with hyperparathyroidism, bone resorption markers, and history of fracture. The optimal supplementation regimen remains to be determined. Copyright © 2012. Published by Elsevier Inc. PMID: 23072921 [PubMed - as supplied by publisher] Related citations 2. Am J Epidemiol. 2012 Oct 1;176 Suppl 7:S175-85. doi: 10.1093/aje/kws323. Sickle Cell Trait Protects Against Plasmodium falciparum Infection. Billo MA, Johnson ES, Doumbia SO, Poudiougou B, Sagara I, Diawara SI, Diakité M, Diallo M, Doumbo OK, Tounkara A, Rice J, James MA,Krogstad DJ. Abstract Although sickle cell trait protects against severe disease due to Plasmodium falciparum, it has not been clear whether sickle trait also protects against asymptomatic infection (parasitemia). To address this question, the authors identified 171 persistently smear-negative children and 450 asymptomatic persistently smear-positive children in Bancoumana, Mali (June 1996 to June 1998). They then followed both groups for 2 years using a cohort-based strategy. Among the 171 children with persistently negative smears, the median time for conversion to smear-positive was longer for children with sickle trait than for children without (274 vs. 108 days, P < 0.001; Cox hazard ratio = 0.56, 95% confidence interval: 0.33, 0.96; P = 0.036). Similar differences were found in the median times to reinfection after spontaneous clearance without treatment (365 days vs. 184 days; P = 0.01). Alternatively, among the 450 asymptomatic children with persistently positive smears, the median time for conversion to smear-negative (spontaneous clearance) was shorter for children with sickle trait than for children without (190 vs. 365 days; P = 0.02). These protective effects of sickle trait against asymptomatic P. falciparum infection under conditions of natural transmission were demonstrable using a cohort-based approach but not when the same data were examined using a cross-sectional approach. PMID: 23035141 [PubMed - in process] Related citations 3. J Blood Med. 2012;3:105-12. doi: 10.2147/JBM.S32588. Epub 2012 Sep 19. Barriers in transition from pediatrics to adult medicine in sickle cell anemia. Lebensburger JD, Bemrich-Stolz CJ, Howard TH. Source Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL, USA. Abstract Transition of care from pediatric to adult providers is an essential step in the care of young adults with sickle cell anemia. Transition programs should be developed by individual institutions to systematically enhance the transition process for their patients. Prior to transfer, patients must be educated about their disease and personal medical history and develop skill sets required to navigate the adult health care setting. The objective of this literature review is to identify key concepts associated with transition of care for patients with sickle cell anemia. First, transition programs should be developed so that education about transition can begin at an early age. The readiness of patients and families should be assessed and education tailored to meet individual patient needs. Finally, the emotions and fears about transition should be recognized and addressed prior to transition. PMCID: PMC3460672 Free PMC Article PMID: 23055784 [PubMed] Related citations 4. Rev Bras Hematol Hemoter. 2012;34(4):270-4. doi: 10.5581/1516-8484.20120070. The burden and quality of life of caregivers of sickle cell anemia patients taking hydroxyurea versus those not taking hydroxyurea. da Silva LB, Ivo ML, de Souza AS, Pontes ER, Pinto AM, de Araujo OM. Source Universidade Federal de Mato Grosso do Sul - UFMS, Campo Grande, MS, Brazil. Abstract OBJECTIVE: To assess the burden and quality of life of caregivers of patients with sickle cell anemia taking hydroxyurea versus those of patients not taking hydroxyurea. METHODS: A cross-sectional study was performed of caregivers of outpatients with sickle cell anemia in two public hospitals in Campo Grande, MS, from January through June 2010. The World Health Organization Quality of Life-BREF Scale and the Caregiver Burden Scale were used. RESULTS: Of the 37 caregivers in this study, 81.1% were women, 73.0% were mothers, 59.5% were married, 54.1%were mulattos, 48.6% were housewives, 54.1% had family incomes of up to one minimum wage and 75.7% had onlycompleted elementary education. The mean duration of care provided (time after diagnosis) was 16.08 ± 9.88 yearsand 89.2% reported that they provided 24-hour care. Regarding health, 27.0% of study participants reported having physical and 13.5% emotional problems. There were no significant relationships between these variables either with the different domains or the total score of the WHOQOL-BREF comparing caregivers of patients taking hydroxyurea versusthose of patients not taking hydroxyurea. There was a moderate negative linear correlation between the WHOQOL-BREF and the Caregiver Burden Scale scores (linear correlation test of Pearson: p-value = 0.003, r = -0.477). The burden of caregivers of patients who did not take hydroxyurea was significantly higher than those of patients who took the medication in terms of general tension, disappointment, environment and total score (student t-test: p-value < 0.05). CONCLUSION: In the perception of the caregiver, looking after sickle cell anemia patients represents a moderate negative burden. PMCID: PMC3460397 Free PMC Article PMID: 23049439 [PubMed] Related citations 5. Rev Bras Hematol Hemoter. 2012;34(3):178-9. doi: 10.5581/1516-8484.20120042. Is sickle cell disease the same everywhere? Hankins J. Source St. Jude Children's Research Hospital Memphis, TN, USA. PMCID: PMC3459638 Free PMC Article PMID: 23049412 [PubMed - in process] Related citations 6. Rev Bras Hematol Hemoter. 2012;34(3):175-7. doi: 10.5581/1516-8484.20120041. Sickle cell disease: looking back but towards the future. Cançado RD. Source Faculdade de Ciências Médicas da Santa Casa de São Paulo - FCMSCSP, SP, Brazil. PMCID: PMC3459630 Free PMC Article PMID: 23049411 [PubMed - in process] Related citations 7. Curr Opin Ophthalmol. 2012 Nov;23(6):533-6. doi: 10.1097/ICU.0b013e328358b921. Ophthalmic manifestations of sickle cell disease: update of the latest findings. Lim JI. Source Department of Ophthalmology, University of Illinois at Chicago, Chicago, Illinois, USA. Abstract PURPOSE OF REVIEW: Recent developments in the diagnosis and management of sickle cell ocular manifestations are reviewed to enable the clinician to better manage the ophthalmic care of these patients. RECENT FINDINGS: Research over the past year has focused upon systemic and ocular clues to the presence of sickle cell retinopathy. In addition, newer imaging modalities, such as spectral domain optical coherence tomography and wide-field imaging, have resulted in the detection of subclinical retinopathy related to sickle cell disease. Decreased retinal function (via microperimetry testing) has also been detected in association with areas of retinal thinning. Identification of these ocular and systemic factors that are associated with sickle cell retinopathy will help identify those patients who most need to be screened for sickle cell retinopathy. SUMMARY: The awareness of subclinical disease as well as the identification of systemic factors associated with higher prevalence of sickle cell retinopathy will aid the clinician in identifying those patients who are at higher risk of retinopathy. PMID: 23047170 [PubMed - in process] Related citations 8. Br J Haematol. 2012 Oct 4. doi: 10.1111/bjh.12061. [Epub ahead of print] Challenges of alloimmunization in patients with haemoglobinopathies. Chou ST, Liem RI, Thompson AA. Source Children's Hospital of Philadelphia, Philadelphia, PA, USA. Abstract Red blood cell (RBC) transfusions can be life-sustaining in chronic inherited anaemias, such as thalassaemia, and the indications for blood transfusions in patients with sickle cell disease continue to expand. Complications of transfusions, such as allosensitization, can create significant medical challenges in the management of patients with haemoglobinopathies. This review summarizes key findings from the medical literature related to alloimmunization in haemoglobinopathies and examines potential measures to mitigate these risks. Areas where future studies are needed are also addressed. © 2012 Blackwell Publishing Ltd. PMID: 23034087 [PubMed - as supplied by publisher] Related citations 9. J Fam Pract. 2012 Sep;61(9 Suppl):S5-8. Chronic Pain Perspectives: Sickle cell disease: Gaining control over the pain. Gregory TB. Source Department of Pharmacy, Truman Medical Centers, Kansas City, MO, USA. Abstract Ongoing adjustments to the medication regimen and careful attention to lifestyle and support systems are critical to helping patients manage the pain of sickle cell disease. PMID: 23000669 [PubMed - in process] Related citations 10. Pediatrics. 2012 Oct 1. [Epub ahead of print] Transition and Sickle Cell Disease. Debaun MR, Telfair J. Source Department of Pediatrics, Vanderbilt University School of Medicine and Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, Tennessee; and. Abstract Sickle cell disease (SCD), the most common genetic disease screened for in the newborn period, occurs in ∼1 in 2400 newborns in the general population and 1 in 400 individuals of African descent in the United States. Despite the relative high prevalence and low pediatric mortality rate of SCD when compared with other genetic diseases or chronic diseases in pediatrics, few evidence-based guidelines have been developed to facilitate the transition from pediatrics to an internal medicine or family practice environment. As with any pediatric transition program, common educational, social, and health systems themes exist to prepare for the next phase of health care; however, unique features characterizing the experience of adolescents with SCD must also be addressed. These challenges include, but are not limited to, a higher proportion of SCD adolescents receiving public health insurance when compared with any other pediatric genetic or chronic diseases; the high proportion of overt strokes or silent cerebral infarcts (∼30%) affecting cognition; risk of low high school graduation; and a high rate of comorbid disease, including asthma. Young adults with SCD are living longer; consequently, the importance of transitioning from a pediatric primary care provider to adult primary care physician has become a critical step in the health care management plan. We identify how the primary care physicians in tandem with the pediatric specialist can enhance transition interventions for children and adolescents with SCD. PMID: 23027174 [PubMed - as supplied by publisher] Sickle Cell Conferences and Events West Coast Sickle Cell Nurses Conference Friday, October 26, 2012Presented by Children's Hospital Los Angeles -Improving Outcomes for Children and Adults with Sickle Cell Disease Location: John Stauffer Conference Room Children's Hospital Los Angeles Registration fee: $45.00 5 CEU's Lunch provided Please note, this is a NURSES ONLY conference. For adults and parents, please provide this information to your nurse or health care provider. For more information, contact Trish Peterson attpeterson@chla.usc.edu or Debbie Harris at dharris@chla.usc.edu Caribbean Sickle Cell Conference in Saint Lucia from October 26 to 28, 2012, at the Bay Gardens Hotel The Caribbean Organization of Sickle Cell Associ