|At 16, She’s a Pioneer in the Fight to Cure Sickle Cell Disease
Helen Obando is the youngest person ever to get a gene therapy that scientists hope will cure the disease, which afflicts 100,000 Americans.https://www.nytimes.com/2020/01/11/health/sickle-cell-disease-cure.html
|New Podcast – Sickle Cell Disease: Give Blood, Save a Life
CDC is proud to announce that a new podcast, “Sickle Cell Disease: Give Blood, Save a Life,” posted in September during Sickle Cell Awareness Month. This podcast highlights the importance of blood donations from African Americans to help people with sickle cell disease who might need one or more blood transfusions.
|It is estimated that about 100,000 Americans have sickle cell disease, which is most common among people of African descent. Many people with sickle cell disease will need one or more blood transfusions during their lifetime. Matching donated blood from someone of the same race and ethnicity as the person receiving the blood can help prevent some health problems that can happen with blood transfusions, such as organ failure or stroke. Currently, there is a shortage of blood donated by African Americans. Having more blood donations from African Americans can help people with sickle cell disease avoid complications from blood transfusions and improve their quality of life.
|To learn more about the importance of blood donations from African Americans, as well as details about who can give blood, listen to this podcast.
|To learn more about sickle cell disease, visit our sickle cell webpage.This month, the Sickle Cell Disease Coalition and its Minority Blood Donation Workgroup is encouraging you to help raise awareness for blood donation, specifically for those living with sickle cell disease. The purpose of the Minority Blood Donation Workgroup is: To educate and inspire those of African ancestry to donate blood by creating awareness about the important role their donation holds in helping to save the lives of those with sickle cell disease.How can you help? Copy and paste the social media posts below (along with the accompanying images). Additional National Blood Donor Month images can be found, here.
|To find free resources and learn more about what you can do to help people with sickle cell disease, visit the REdHHoTT web page. RedHHoTT is a project led by the Georgia Health Policy Center and funded by the Centers for Disease Control and Prevention.
Effort To Control Opioids In An ER Leaves Some Sickle Cell Patients In Pain
Now Available! Gene Therapy Webinar Series
The American Society of Gene and Cell Therapy has partnered with the National Organization for Rare Disorders to release a patient-friendly five-part webinar series to educate on gene therapy. One of the speakers in the “Life After Gene Therapy” webinar shares his experience with gene therapy for sickle cell disease. You can find the recordings of the full series and details here, with topics including:
• Gene Therapy: Then, Now, Later
• The Science Behind Gene Therapy
• FDA’s Role in Gene Therapy
• Process and Aftercare
• Life After Gene Therapy
The Jason Carter Clinical Trials Program
Finding and enrolling patients in appropriate clinical trials can be extremely time-consuming. The National Marrow Donor Program’s Jason Carter Clinical Trials Program (JCCTP) partners with health professionals to find clinical trial options that are right for their patients living with sickle cell disease (SCD). If you need help searching for SCD trials, JCCTP is here to help. To learn more about the program, visit: JCCTP.org
Clinical Trial Travel Grant
Joining a clinical trial will likely come with some significant financial concerns. Some clinical trials are not covered by insurance, and trials held far from home bring travel and lodging expenses as well. The Drs. Jeffrey and Isabel Chell Clinical Trials Travel Grant, in partnership with the Jason Carter Clinical Trials Program, can help cover travel costs such as airfare, ground transportation and accommodations for individuals living with sickle cell disease and a companion. Learn more and applyhere.
ASH Offers New Benign Hematology Curriculum
The American Society of Hematology has released 15 educational modules on sickle cell disease (SCD). These modules are offered as a part of the Society’s Benign Hematology Curriculum (BHC), a series of free, web-based videos designed to supplement education in benign hematology for fellows. Each course focuses on a different benign hematology topic, with the goal of providing fellows with an educational resource that might not be available locally. Click hereto view the course.
Guide to Sickle Cell and Employment
|“A team at De Montfort University (Professor Simon Dyson and Dr Maria Berghs) in the UK has recently completed a project looking at sickle cell, work and employment. The project has produced a Guide to Sickle Cell and Employment and produced a web-site with some further resources at http://sicklecellwork.dmu.ac.uk. The guide is an open education resource (CC-BY-SA) meaning that it can be freely copied printed or placed on a web-site. Subject to the rules of CC-BY-SA, it can also be adapted for use in other cultures or contexts” contact firstname.lastname@example.org
Articles in the medical literature
|Cleve Clin J Med. 2020 Jan;87(1):28-29. doi: 10.3949/ccjm.87a.19124. Epub 2020 Jan 2.Gene therapy in sickle cell disease: Possible utility and impact.Curtis SA1, Shah NC2.Free Article
|Cleve Clin J Med. 2020 Jan;87(1):19-27. doi: 10.3949/ccjm.87a.18051. Epub 2020 Jan 2.Sickle cell disease: A primary care update.Onimoe G1, Rotz S2.AbstractSickle cell disease (SCD) is the most common hemoglobinopathy in the United States and causes significant disease-related morbidity including multiorgan damage, chronic anemia, and debilitating pain crises. Primary care physicians play a key role in the medical home model of care for adults with SCD. This review focuses on current recommendations for health maintenance and provides a brief summary of disease complications and current updates.Copyright © 2020 The Cleveland Clinic Foundation. All Rights Reserved.Free Article
|Am J Hematol. 2020 Jan 28. doi: 10.1002/ajh.25742. [Epub ahead of print]Complement activation in sickle cell disease: dependence on cell density, hemolysis and modulation by hydroxyurea therapy.Roumenina LT1, Chadebech P2,3, Bodivit G2,3, Vieira-Martins P4, Grunenwald A1, Boudhabhay I1, Poillerat V1, Pakdaman S2,3, Kiger L3, Jouard A2,3, Audureau E5, Pirenne F2,3, Galactéros F3,6, Frémeaux-Bacchi V1,4, Bartolucci P3,6.AbstractThe complement system is an innate immune defense cascade that can cause tissue damage when inappropriately activated. Evidence for complement overactivation has been reported in small cohorts of patients with sickle cell disease (SCD). However, the mechanism governing complement activation in SCD has not been elucidated. Here, we observe that the plasma concentration of sC5b-9, a reliable marker for terminal complement activation, is increased at steady state in 61% of untreated SCD patients. We show that greater complement activation in vitro is promoted by SCD erythrocytes compared to normal ones, although no significant differences were observed in the regulatory proteins CD35, CD55, and CD59 in whole blood. Complement activation is positively correlated with the percentage of dense sickle cells (DRBCs). The expression levels of CD35, CD55, and CD59 are reduced in DRBCs, suggesting inefficient regulation when cell density increases. Moreover, the surface expression of the complement regulator CD46 on granulocytes was inversely correlated with the plasma sC5b-9. We also show increased complement deposition in cultured human endothelial cells incubated with SCD serum, which is diminished by the addition of the heme scavenger hemopexin. Treatment of SCD patients with hydroxyurea produces substantial reductions in complement activation, measured by sC5b-9 concentration and upregulation of CD46, as well as decreased complement activation on RBCs in vitro. In conclusion, complement overactivation is a common pathogenic event in SCD that is associated with formation of DRBCs and hemolysis and affects red cells, leukocytes and endothelial cells. This complement overactivation is partly alleviated by hydroxyurea therapy. This article is protected by copyright. All rights reserved.This article is protected by copyright. All rights reserved.
|Blood Adv. 2020 Jan 28;4(2):327-355. doi: 10.1182/bloodadvances.2019001143.American Society of Hematology 2020 guidelines for sickle cell disease: transfusion support.Chou ST1, Alsawas M2, Fasano RM3, Field JJ4, Hendrickson JE5,6, Howard J7,8, Kameka M9, Kwiatkowski JL1, Pirenne F10, Shi PA11, Stowell SR3, Thein SL12, Westhoff CM13, Wong TE14, Akl EA15..AbstractBACKGROUND: Red cell transfusions remain a mainstay of therapy for patients with sickle cell disease (SCD), but pose significant clinical challenges. Guidance for specific indications and administration of transfusion, as well as screening, prevention, and management of alloimmunization, delayed hemolytic transfusion reactions (DHTRs), and iron overload may improve outcomes.OBJECTIVE: Our objective was to develop evidence-based guidelines to support patients, clinicians, and other healthcare professionals in their decisions about transfusion support for SCD and the management of transfusion-related complications.METHODS: The American Society of Hematology formed a multidisciplinary panel that was balanced to minimize bias from conflicts of interest and that included a patient representative. The panel prioritized clinical questions and outcomes. The Mayo Clinic Evidence-Based Practice Research Program supported the guideline development process. The Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach was used to form recommendations, which were subject to public comment.RESULTS: The panel developed 10 recommendations focused on red cell antigen typing and matching, indications, and mode of administration (simple vs red cell exchange), as well as screening, prevention, and management of alloimmunization, DHTRs, and iron overload.CONCLUSIONS: The majority of panel recommendations were conditional due to the paucity of direct, high-certainty evidence for outcomes of interest. Research priorities were identified, including prospective studies to understand the role of serologic vs genotypic red cell matching, the mechanism of HTRs resulting from specific alloantigens to inform therapy, the role and timing of regular transfusions during pregnancy for women, and the optimal treatment of transfusional iron overload in SCD.
|Hematology. 2020 Dec;25(1):55-62. doi: 10.1080/16078454.2020.1714113.Distribution of sickle cell disease and assessment of risk factors based on transcranial Doppler values in the Gulf region.Wali Y1,2, Kini V3, Yassin MA4.AbstractBackground/Objective: Stroke is a potentially fatal complication of sickle cell disease (SCD). Transcranial Doppler (TCD) is useful at identifying increased risk of stroke in children with SCD and vasospasm after subarachnoid hemorrhage. The main aim of this study was to determine the proportion of patients with SCD in the Gulf region who are at a high risk of stroke, as determined by TCD.Methods: This multicenter (Oman, Qatar, and UAE), descriptive, cross-sectional study in patients (aged 2-16 years) with SCD included a baseline visit, 1 follow-up visit for patients with conditional TCD, and 3-year retrospective data analysis for all patients.Results: Of the 410 eligible patients (Oman, 86.5%; Qatar, 8.2%; UAE, 5.1%), most had a TCD finding (left side, 91.7%; right side, 92.0%) of normal velocity (<155 cm/s) at baseline. For 6 of 7 patients with conditional velocity (155-179 cm/s) and 1 patient with high velocity (≥180 cm/s), baseline TCD results were not confirmed at follow-up. As per bivariate linear regression, age, race, transfusion type, and transfusion frequency were significant predictors of the TCD velocities. Multivariate logistic regressions revealed that TCD velocities were significantly correlated with sex, race, and type of transfusion. No patients reported any adverse events at follow-up. No deaths occurred during the study.Discussion/Conclusions:The study results show that far fewer patients with SCD in the Gulf have abnormal TCD findings than the internationally reported. Larger studies are needed to identify the factors underlying this observation.
|J Clin Med. 2020 Jan 22;9(2). pii: E308. doi: 10.3390/jcm9020308.Primary Hyperparathyroidism in Sickle Cell Disease: An Unknown Complication of the Disease in Adulthood.Denoix E1,2, Bomahou C1,2, Clavier L3, Ribeil JA2,4,5, Lionnet F6, Bartolucci P7,8, Courbebaisse M2,9, Pouchot J1,2, Arlet JB1,2,4.AbstractPrimary hyperparathyroidism (pHPT) is the third most common endocrine disorder and usually affects patients between 60 and 70 years of age. To our knowledge, this condition has never been studied in young patients with sickle cell disease (SCD). Our objective was to describe the clinical and biological characteristics of pHPT in adult patients with SCD and its management. We conducted a retrospective study that included SCD patients who were diagnosed with pHPT in four SCD referral centers. pHPT was defined by the presence of elevated serum calcium levels with inappropriate normal or increased parathyroid hormone (PTH) serum levels or histopathological evidence of parathyroid adenoma or hyperplasia. Patients with severe renal impairment (GFR <30 mL/min) were excluded. Twenty-eight patients (18 women, 64%; 22 homozygous genotype, 79%) were included. The median age at pHPT diagnosis was 41 years (interquartile range -IQR- 31.5-49.5). The median serum calcium and PTH concentration were, respectively, 2.62 mmol/L (IQR 2.60-2.78) and 105 pg/mL (IQR 69-137). Bone mineral density (BMD) revealed very low BMD (-2.5 SD) in 44% of patients explored (vs. 12.5% among 32 SCD patients matched for SCD genotype, sex, age, and BMI, p = 0.03). Fourteen patients (50%) received surgical treatment, which was successful in all cases, but four of these patients (29%) presented with pHPT recurrence after a median time of 6.5 years. Three of these patients underwent a second cervical surgery that confirmed the presence of a new parathyroid adenoma. These results suggest that SCD is a condition associated with pHPT in young subjects. SCD patients with pHPT have a high risk of very low BMD. A diagnosis of pHPT should be suspected in the presence of mild hypercalcemia or low BMD in SCD patients.Free Article
|Bone. 2020 Jan 20:115228. doi: 10.1016/j.bone.2020.115228. [Epub ahead of print]Evaluation of the effectiveness of prophylactic oral vitamin D (cholecalciferol) in children with sickle cell disease.Garrido C1, Bardón-Cancho EJ2, de Los Ángeles Fajardo-Sánchez V3, Cascón-Pérez-Teijón ME4, García-Morín M5, Cela E6; VIT-SICKLE Study Group.Collaborators: (5) Beléndez C7, Mata-Fernández C5, Huerta-Aragonés J5, Escobar-Fernández L5, Béliz-Mendiolaw C5.AbstractBACKGROUND: Vitamin D (25(OH)D) deficiency has become an emerging public health problem due to its influence on skeletal and extraskeletal diseases. Bone health in patients with sickle cell disease (SCD) is especially compromised and they are more likely to have 25(OH)D deficiency than the general population. Despite this, there is little information on the efficacy of vitamin D3 (vitD3) prophylaxis and its role in improving bone mineral density (BMD) in this population.PROCEDURES: A prospective, longitudinal, single-center study was conducted with 136 children with SCD monitored at a tertiary referral hospital for SCD. Demographic, clinical and management data, 25(OH)D levels and bone densitometries (DXA) were collected.RESULTS: Eighty patients were included. There are significant differences between the means of each of 25(OH)D levels as a function of whether the patient started prophylactic treatment as an infant or not (35.71 vs. 27.89 ng/ml, respectively [p = .014]). In multivariate analysis, 800 IU daily dose was shown as a protective factor (p = .044) to reach optimal blood levels (≥30 ng/ml). According to Kaplan-Meier curves, patients younger than 10 years reached optimal levels earlier than older (p = .002), as well as those who were not being treated with hydroxyurea (p = .039).CONCLUSIONS: VitD3 prophylaxis is a safe practice in SCD. It is important to start this prophylactic treatment when the child is an infant. The daily regimen with 800 IU could be more effective for reaching levels ≥30 ng/ml, and, especially in preadolescent and adolescent patients, we should raise awareness about the importance of good bone health.Copyright © 2020. Published by Elsevier Inc.
|Br J Haematol. 2020 Jan 21. doi: 10.1111/bjh.16405. [Epub ahead of print]Position paper on International Collaboration for Transfusion Medicine (ICTM) Guideline ‘Red blood cell specifications for patients with hemoglobinopathies: a systematic review and guideline’.Trompeter S1, Massey E2, Robinson S3; Transfusion Task Force of the British Society of Haematology Guidelines Committee.AbstractThe International Collaboration for Transfusion Medicine Guidelines (ICTMG) has published guidance on transfusion for haemoglobinopathies. To give a UK perspective on this guidance, each of the recommendations in the ICTMG guideline were reviewed and the applicability for transfusion practice in the UK considered with reference to relevant published British Society for Haematology (BSH) guidelines and national standards . There was much consensus; however, there was disparity surrounding the recommendations for routinely extended matching in those with alloimmunisation.© 2020 British Society for Haematology and John Wiley & Sons Ltd.
|J Clin Med. 2020 Jan 3;9(1). pii: E133. doi: 10.3390/jcm9010133.One-Fifth of Children with Sickle Cell Anemia Show Exercise-Induced Hemoglobin Desaturation: Rate of Perceived Exertion and Role of Blood Rheology.Brousse V1,2,3, Pondarre C4, Arnaud C4, Kamden A4, de Montalembert M1,2, Boutonnat-Faucher B1, Bourdeau H5, Charlot K6, Grévent D7, Verlhac S8, da Costa L2,3,5,9, Connes P2,10,11. AbstractPerceived exertion is an important self-limiting factor influencing functional capacity in patients with sickle cell anemia (SCA). Exercise-related hemoglobin desaturation (EHD) may occur during a six-minute walking test (6MWT) and could influence the perceived rate of exertion. The aims of this study were (1) to compare the 6MWT responses (heart rate, perceived rate of exertion, and distance covered) between SCA children with and without EHD, and (2) to test the associations between EHD and several biological/physiological parameters. Nine of 51 SCA children (18%) at steady state (mean age 11.9 ± 3.8 years) exhibited EHD at the end of the 6MWT. The rate of perceived exertion increased with exercise in the two groups, but reached higher values in the EHD group. Heart rate and performance during the 6MWT did not differ between the two groups. The magnitude of change in SpO2 during the 6MWT was independently associated with the red blood cell (RBC) deformability and RBC aggregates strength. This study demonstrates that SCA children with EHD during a 6MWT have a higher rate of perceived exertion than non-EHD children despite a similar physiological demand, and that abnormal RBC rheology determinants appear to be significant contributors.Free Article
|Clin Appl Thromb Hemost. 2020 Jan-Dec;26:1076029619895111. doi: 10.1177/1076029619895111.Effect of Hydroxyurea Treatment on the Inflammatory Markers Among Children With Sickle Cell Disease.Zahran AM1, Nafady A2,3, Saad K4, Hetta HF5, Abdallah AM4, Abdel-Aziz SM4, Embaby MM4, Abo Elgheet AM4, Darwish SF6, Abo-Elela MGM4, Elhoufey A7, Elsayh KI4.AbstractBACKGROUND: Neutrophil-to-lymphocyte ratio (NLR) was introduced as a potential inflammatory marker in sickle cell disease (SCD). This study aimed to evaluate the impact of hydroxyurea (HU) treatment on the value of NLR and some inflammatory mediators in SCD.METHODS: The hematological parameters and clinical events were analyzed in 35 children with SCD under HU treatment and followed up for 1 year and in 20 healthy controls. Enzyme-linked immunosorbent assay was performed for the evaluation of proinflammatory cytokines, including interleukin (IL) 6, IL-8, high-sensitivity C-reactive protein (hs-CRP), and tumor necrosis factor α (TNF-α).RESULTS: Hydroxyurea significantly improves most of the hematological parameters in children with SCD. The percentages of hemoglobin fraction S, serum levels of TNF-α and IL-6 were significantly decreased when compared to baseline value but did not reach the value of the healthy control. The HU treatment led to a significant decrease in NLR compared to the baseline values and reached healthy control values. Neutrophil-to-lymphocyte ratio was positively correlated with hs-CRP, TNF-α, and IL-8 serum levels and negatively correlated with percentage of fetal hemoglobin and hematocrit values. The cutoff value of NLR to expect a response to HU among SCD was 3.0, with 76% specificity and 85% sensitivity (area under the curve: 0.85, P < .0001). In conclusion, hydroxyurea induced a decrease in NLR and inflammatory cytokines, which represent a biomarker of inflammation in SCD. The calculation of NLR is a straightforward and cheap method for SCD outcome prediction in young children.
|Cochrane Database Syst Rev. 2020 Jan 16;1:CD007843. doi: 10.1002/14651858.CD007843.pub4.Blood transfusions for treating acute chest syndrome in people with sickle cell disease.Dolatkhah R1, Dastgiri S2.Update ofBlood transfusions for treating acute chest syndrome in people with sickle cell disease.[Cochrane Database Syst Rev. 2016]AbstractBACKGROUND: Sickle cell disease is an inherited autosomal recessive blood condition and is one of the most prevalent genetic blood diseases worldwide. Acute chest syndrome is a frequent complication of sickle cell disease, as well as a major cause of morbidity and the greatest single cause of mortality in children with sickle cell disease. Standard treatment may include intravenous hydration, oxygen as treatment for hypoxia, antibiotics to treat the infectious cause and blood transfusions may be given. This is an update of a Cochrane Review first published in 2010 and updated in 2016.OBJECTIVES: To assess the effectiveness of blood transfusions, simple and exchange, for treating acute chest syndrome by comparing improvement in symptoms and clinical outcomes against standard care.SEARCH METHODS: We searched The Cochrane Cystic Fibrosis and Genetic Disorders 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. Date of the most recent search: 30 May 2019.SELECTION CRITERIA: Randomised controlled trials and quasi-randomised controlled trials comparing either simple or exchange transfusion versus standard care (no transfusion) in people with sickle cell disease suffering from acute chest syndrome.DATA COLLECTION AND ANALYSIS: Both authors independently selected trials and assessed the risk of bias, no data could be extracted.MAIN RESULTS: One trial was eligible for inclusion in the review. While in the multicentre trial 237 people were enrolled (169 SCC, 42 SC, 15 Sβ⁰-thalassaemia, 11Sβ+-thalassaemia); the majority were recruited to an observational arm and only ten participants met the inclusion criteria for randomisation. Of these, four were randomised to the transfusion arm and received a single transfusion of 7 to 13 mL/kg packed red blood cells, and six were randomised to standard care. None of the four participants who received packed red blood cells developed acute chest syndrome, while 33% (two participants) developed acute chest syndrome in standard care arm. No data for any pre-defined outcomes were available.AUTHORS’ CONCLUSIONS: We found only one very small randomised controlled trial; this is not enough to make any reliable conclusion to support the use of blood transfusion. Whilst there appears to be some indication that chronic blood transfusion may play a roll in reducing the incidence of acute chest syndrome in people with sickle cell disease and albeit offering transfusions may be a widely accepted clinical practice, there is currently no reliable evidence to support or refute the perceived benefits of these as treatment options; very limited information about any of the potential harms associated with these interventions or indeed guidance that can be used to aid clinical decision making. Clinicians should therefore base any treatment decisions on a combination of; their clinical experience, individual circumstances and the unique characteristics and preferences of adequately informed people with sickle cell disease who are suffering with acute chest syndrome. This review highlights the need of further high quality research to provide reliable evidence for the effectiveness of these interventions for the relief of the symptoms of acute chest syndrome in people with sickle cell disease.Copyright © 2020 The Cochrane Collaboration. Published by John Wiley & Sons, Ltd.
|Mediterr J Hematol Infect Dis. 2020 Jan 1;12(1):e2020010. doi: 10.4084/MJHID.2020.010. eCollection 2020.The Evolving Pharmacotherapeutic Landscape for the Treatment of Sickle Cell Disease.Ballas SK1.AbstractSickle cell disease (SCD) is an extremely heterogeneous disease that has been associated with global morbidity and early mortality. More effective and inexpensive therapies are needed. During the last five years, the landscape of the pharmacotherapy of SCD has changed dramatically. Currently, 54 drugs have been used or under consideration to use for the treatment of SCD. These fall into 3 categories: the first category includes the four drugs (Hydroxyurea, L-Glutamine, Crizanlizumab tmca and Voxelotor) that have been approved by the United States Food and Drug Administration (FDA) based on successful clinical trials. The second category includes 22 drugs that failed, discontinued or terminated for now and the third category includes 28 drugs that are actively being considered for the treatment of SCD. Crizanlizumab and Voxelotor are included in the first and third categories because they have been used in more than one trial. New therapies targeting multiple pathways in the complex pathophysiology of SCD have been achieved or are under continued investigation. The emerging trend seems to be the use of multimodal drugs (i.e. drugs that have different mechanisms of action) to treat SCD similar to the use of multiple chemotherapeutic agents to treat cancer.PMCID: PMC6951351 Free PMC Article
|Conflict of interest statementCompeting interests: The authors declare no conflict of Interest.
|Transfus Med Hemother. 2019 Dec;46(6):407-416. doi: 10.1159/000504144. Epub 2019 Nov 14.Red Blood Cells: Exchange, Transfuse, or Deplete.Stussi G1, Buser A2,3, Holbro A2,3..AbstractErythrocytapheresis, red blood cell (RBC) depletion, and RBC exchange transfusions are apheresis techniques used to rapidly lower the circulating RBC mass or to exchange the patient erythrocyte mass with donor RBC. Automated RBC exchange is performed using an apheresis device, while manual RBC exchange is based on sequential phlebotomies and isovolemic replacement. Compared to simple RBC transfusions, RBC exchange offers several advantages, e.g., a lower risk for iron accumulation and efficient control of pathological erythrocyte populations. Disadvantages are the higher costs of the procedure, the increased use of donor RBC, and the requirement of apheresis devices and trained hospital staff. The most frequent indication for RBC exchange is sickle cell disease (SCD). RBC exchange transfusions are standard treatment in SCD patients with a history of or a risk for acute stroke and are clinical options for other acute complications of SCD. The most common indication for RBC depletion is the removal of donor RBC from the bone marrow grafts in major ABO-incompatible allogeneic hematopoietic stem cell transplantation to avoid immediate hemolysis. Rare indications for RBC exchange are severe infections with intraerythrocytic pathogens such as malaria or babesiosis and severe erythrocytosis or hereditary hemochromatosis where the aim is to rapidly decrease RBC populations or the iron content. However, only few high-quality studies are available looking at the efficacy of RBC exchange in the different disease entities, and treatment is often based on low levels of evidence and should therefore be decided in close collaboration with a transfusion medicine specialist.Copyright © 2019 by S. Karger AG, Basel.PMCID: PMC6944943 Free PMC Article
|Conflict of interest statementThe authors declare no financial conflicts.
|Drugs. 2020 Jan;80(1):79-84. doi: 10.1007/s40265-019-01254-2.Crizanlizumab: First Approval.Blair HA1.Crizanlizumab (Adakveo®; crizanlizumab-tmca) is an intravenously administered monoclonal antibody developed by Novartis Pharmaceuticals for the prevention of vaso-occlusive crises (VOCs) in patients with sickle cell disease. Crizanlizumab binds to P-selectin, thereby blocking its interaction with P-selectin glycoprotein ligand-1. In November 2019, crizanlizumab received its first global approval in the USA, where it is indicated to reduce the frequency of VOCs in adults and paediatric patients aged ≥ 16 years with sickle cell disease. The drug is also under regulatory review in the EU for the prevention of VOCs in patients with sickle cell disease. The use of crizanlizumab (in combination with ruxolitinib) in myelofibrosis is also being evaluated in Australia, Spain, Germany and Hungary. This article summarizes the milestones in the development of crizanlizumab leading to this first approval for the reduction of VOCs in patients with sickle cell disease.
|Qual Life Res. 2020 Jan 13. doi: 10.1007/s11136-019-02412-5. [Epub ahead of print]The relationship between frequency and severity of vaso-occlusive crises and health-related quality of life and work productivity in adults with sickle cell disease.Rizio AA1, Bhor M2, Lin X3, McCausland KL3, White MK3, Paulose J2, Nandal S2, Halloway RI4, Bronté-Hall L5.AbstractPURPOSE: Patients with sickle cell disease (SCD) may experience sickle cell-related pain crises, also referred to as vaso-occlusive crises (VOCs), which are a substantial cause of morbidity and mortality. The study explored how VOC frequency and severity impacts health-related quality of life (HRQoL) and work productivity.METHODS: Three hundred and three adults with SCD who completed an online survey were included in the analysis. Patients answered questions regarding their experience with SCD and VOCs, and completed the Adult Sickle Cell Quality of Life Measurement Information System (ASCQ-Me) and the Workplace Productivity and Activity Impairment: Specific Health Problem (WPAI:SHP). Differences in ASCQ-Me and WPAI:SHP domains were assessed according to VOC frequency and severity.RESULTS: Nearly half of the patient sample (47.2%) experienced ≥ 4 VOCs in the past 12 months. The most commonly reported barriers to receiving care for SCD included discrimination by or trouble trusting healthcare professionals (39.6%, 33.3%, respectively), limited access to treatment centers (38.9%), and difficulty affording services (29.4%). Patients with more frequent VOCs reported greater impacts on emotion, social functioning, stiffness, sleep and pain, and greater absenteeism, overall productivity loss, and activity impairment than patients with less frequent VOCs (P < 0.05). Significant impacts on HRQoL and work productivity were also observed when stratifying by VOC severity (P < 0.05 for all ASCQ-Me and WPAI domains, except for presenteeism).CONCLUSIONS: Results from the survey indicated that patients with SCD who had more frequent or severe VOCs experienced deficits in multiple domains of HRQoL and work productivity. Future research should examine the longitudinal relationship between these outcomes.
|Pediatr Ann. 2020 Jan 1;49(1):e43-e49. doi: 10.3928/19382359-20191210-01.Sickle Cell Disease: A Primer for Primary Care Providers.Kimrey S, Saving KL.AbstractSickle cell disease is an autosomal recessive disorder with significant global impact. This disorder causes the production of a dysfunctional hemoglobin, which leads to sickling of erythrocytes and ultimately hemolysis, endothelial dysfunction, vaso-occlusion, and sterile inflammation. These cellular level processes produce end-organ changes that ultimately result in specific risks and preventive care needs, unique emergency situations, and long-term complications for patients. Options for the treatment of sickle cell disease are increasing. Thus far, hydroxyurea is the most proven treatment and has been shown to reduce vaso-occlusive crises in children and adults and preserve organ function. Other therapies, both disease modifying and curative, are emerging and will hopefully have a substantial effect in the near future. [Pediatr Ann. 2020;49(1):e43-e49.].Copyright 2020, SLACK Incorporated.
|JMIR Pediatr Parent. 2020 Jan 7;3(1):e15093. doi: 10.2196/15093.Web-Based Technology to Improve Disease Knowledge Among Adolescents With Sickle Cell Disease: Pilot Study.Saulsberry AC1, Hodges JR1, Cole A1, Porter JS2, Hankins J1.AbstractBACKGROUND: Advancements in treatment have contributed to increased survivorship among children with sickle cell disease (SCD). Increased transition readiness, encompassing disease knowledge and self-management skills before transfer to adult care, is necessary to ensure optimal health outcomes. The Sickle Cell Transition E-Learning Program (STEP) is a public, Web-based, 6-module tool designed to increase transition readiness for youth with SCD.OBJECTIVE: The objective of our study was to investigate the participation rate of youth with SCD in STEP and its association with transition readiness.METHODS: This was a single-center, Institution Review Board-approved, retrospective cohort review. A total of 183 youths with SCD, aged between 12 and 15 years, were offered STEP as an adjunct to in-clinic disease education sessions. Participation rate (number of patients who used at least one STEP module divided by those approached) was calculated. The association among the number of STEP modules completed, disease knowledge, and self-management was explored.RESULTS: Overall, 53 of the 183 approached adolescents completed at least one STEP module, yielding a participation rate in STEP of 29.0%. Of the 53 participants, 37 and 39 adolescents had disease knowledge and self-management confidence rating available, respectively. A positive correlation (r=0.47) was found between the number of STEP modules completed and disease knowledge scores (P=.003). No association was found between the number of modules completed and self-management confidence ratings. Disease knowledge scores were significantly higher among participants who completed ≥3 STEP modules compared with those who completed <3 STEP modules (U=149.00; P=.007).CONCLUSIONS: Improvement in disease knowledge in adolescence is critical to ensure the youth’s ability to self-care during the period of transition to adult care. Despite low participation, the cumulative exposure to the STEP program suggested greater promotion of disease knowledge among adolescents with SCD before transfer to adult care.©Anjelica C Saulsberry, Jason R Hodges, Audrey Cole, Jerlym S Porter, Jane Hankins. Originally published in JMIR Pediatrics and Parenting (http://pediatrics.jmir.org), 07.01.2020.Free Article
|J Am Board Fam Med. 2020 Jan-Feb;33(1):91-105. doi: 10.3122/jabfm.2020.01.190143.Sickle-Cell Disease Co-Management, Health Care Utilization, and Hydroxyurea Use.Crego N1, Douglas C2, Bonnabeau E2, Earls M2, Eason K2, Merwin E2, Rains G2, Tanabe P2, Shah N2.AbstractBACKGROUND: Sickle-cell disease (SCD) causes significant morbidity, premature mortality, and high disease burden, resulting in frequent health care use. Comanagement may improve utilization and patient adherence with treatments such as Hydroxyurea. The purpose of this study was to describe acute-care utilization in Medicaid-enrolled patients with SCD, patient factors associated with comanagement, and adherence to Hydroxyurea.METHODS: Data from 2790 patients diagnosed with SCD, age 1 to 65+ years, enrolled at least 1 month in North Carolina Medicaid between March 2016 and February 2017, were analyzed. Outpatient visits were categorized as primary care, hematologist, and nonhematologist specialist. Nurse practitioners or physician assistants with unidentified specialty type or family practice were categorized separately. Comanagement was defined as a minimum of 1 primary care and 1 hematologist visit/patient during the study period.RESULTS: There were notable age-related differences in utilization of health care services. Only 34.82% of the sample was comanaged. Comanagement was higher in the 1-to-9-year-old (44.88%) and 10-to-17-year-old groups (39.22%) versus the 31-to-45-year-old (30.26%) and 65+-year-old (18.75%) age groups. Age had the greatest influence (AUC = 0.599) on whether or not a patient was comanaged. Only a third of the sample (32.24%) had at least 1 Hydroxyurea (HU) prescription. Age was the most predictive factor of good HUadherence (AUC = 0.6503). Prediction by comanagement was minimal with an AUC = 0.5615.CONCLUSION: Comanagement was a factor in predicting HUadherence, but further studies are needed to identify the frequency and components of comanagement needed to increase adherence and reduce acute care utilization.© Copyright 2020 by the American Board of Family Medicine.Free Article
Sickle Cell Conferences and Events
The Hemoglobinopathy Counselor Training Course will be held in Cincinnati on April 15-16, 2020. The two-day course, presented by the Cincinnati Comprehensive Sickle Cell Center, will be held at Cincinnati Children’s Hospital Medical Center. The course registration fee is $250. The deadline to register is April 1, 2020 and registration space is limited. For more information, please email: SCDEvents@cchmc.org. Registration is available online at www.cincinnatichildrens.org/HemoglobinopathyCTC.
4th Global Congress on Sickle Cell Disease – Call for Abstracts
Abstract submissions are now open for the Global Sickle Cell Disease Network’s 4th Global Congress on Sickle Cell Disease (SCD), which will take place April 7-9, 2020 in Paris, France. The focus of the meeting will be on the compelling need to find one united and coordinated voice for SCD worldwide. Abstract submissions for the Congress will close February 10, 2020. Decision notifications will be sent out on March 9, 2020.The two best abstracts submitted by young investigators (PhD students or post doctorate trainees) will be selected for Young Investigator Prize presentations in the plenary session of the congress.
For more information, and to submit an abstract click here.
First IASCNAPA Conference
The International Association of Sickle Cell Nurses and Professional Associates (IASCNAPA) is hosting a Sickle Cell Disease Conference: Treating the Whole Person, April 17, 2020in Memphis, TN. This is an all-day conference designed to provide information on treating the whole person with sickle cell disease. Experts will provide practical tools using case studies and interactive exercises. Sessions will include pain management and mental health tools; transition skills; and “out of the box” techniques such as virtual reality, and drama therapy. Practical sickle cell resources for nurses, advanced practice practitioners and other healthcare professionals will also be provided. Click hereto learn more and to register. www.iascnapa.org
Foundation for Sickle Cell Disease Research Symposium
The Foundation for Sickle Cell Disease Research (FSCDR) is committed to supporting innovative research in sickle cell disease (SCD) to help maximize quality of life and improve survival for the generations of people affected by SCD. The Symposium focuses on interactive education, sharing of best practices, and exploring novel approaches to dealing with SCD that goes beyond theory to develop practical, real-life solutions. The next annual FSCDR symposium will take place June 12-14, 2020, in Fort Lauderdale, FL. Learn more and register today. https://fscdr.org/the-symposium/