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Imagine a young man with hemophilia A who no longer has to self-administer factor VIII replacement; an individual with sickle cell disease who is free of chronic pain and intermittent crises; a girl functionally blind since the age of 5 who can now see; or a baby rescued from a fatal, inherited neurodegenerative disease. For decades, gene therapy has tantalized us with such futuristic scenarios. However, these goals are now coming into focus, and it is the time to consider some of the consequences of success.

In this issue of Blood , the first prospective trial of unrelated donor bone marrow transplantation (BMT) in children with sickle cell disease (SCD), reported by [Shenoy et al][1], is an important step in extending curative therapy to more children with severe disease.[1][2] ![Figure][3]

This study examined the meaning of sickle cell trait and sickle cell trait screening from the lay perspective of African Americans.African Americans (N = 300), ages 18-35 and unaware of their sickle cell trait status, completed two open-ended questions from a larger survey. One question asked for their understanding of sickle cell trait; the other asked for their understanding of sickle cell trait screening. Content analysis occurred in two phases: (1) In vivo and holistic coding; and (2) focused coding.Four categories emerged illustrating lay conceptions of sickle cell trait; (1) Perceived as an illness; (2) Perceived recognition of the inheritance pattern of sickle cell trait; (3) Perceived lack of knowledge of sickle cell trait; and (4) Perceived importance of sickle cell trait. Five categories emerged illustrating lay conceptions for sickle cell trait screening: (1) Perceived recognition that screening means getting tested for sickle cell trait; (2) Perceived lack of knowledge of sickle cell trait screening; (3) Perceived health benefit of sickle cell trait screening; (4) Perceived importance of sickle cell trait screening; and (5) Perceived barriers to sickle cell trait screening.Sickle cell trait and sickle cell trait screening are concepts that are both regarded as important among this high-risk population. However, there is still misunderstanding concerning the hereditary nature and reproductive implications of sickle cell trait. Interventions seeking to improve communication on the need for sickle cell trait screening should begin by identifying what the population at large understands, knows and/or believes to improve their ability to make informed health decisions.

Sickle Cell Anemia (SCA) was one of the first hemoglobinopathies to be discovered. It is distinguished by the mutation-induced expression of a sickle cell variant of hemoglobin (HbS) that triggers erythrocytes to take a characteristic sickled conformation. The complex physiopathology of the disease and its associated clinical complications has initiated multi-disciplinary research within its field. This review attempts to lay emphasis on the evolution, current standpoint and future scope of therapeutic strategies in SCA.

INTRODUCTION: le but de cette étude était d'étudier les infections chez les enfants présentant un syndrome drépanocytaire majeur. METHODES: étude hospitalière monocentrique, rétrospective descriptive sur dix années menée à Ouagadougou, Burkina Faso. Étaient inclus tous les enfants porteurs d'un syndrome drépanocytaire majeur (homozygote SS et double hétérozygote SC, SD sub Punjab sub, Sβ thalassémique, SO Arab et SE) hospitalisés pour une infection bactérienne confirmée à la microbiologie. RESULTATS: cent trente trois patients répondaient à nos critères d'inclusion. Le phénotype SS représentait 63,2 % des cas et le SC 36,8 %. La fréquence des infections était de 21,8 %. Celles-ci touchaient dans 45,9 % des cas les enfants âgés de 0 à 5 ans. Les signes les plus fréquents étaient les douleurs ostéoarticulaires (42,1 %), la toux (25,7 %), les douleurs abdominales (23,3 %), la pâleur (43,6 %). Les broncho-pneumopathies (31,6 %), le paludisme (16,5 %), les ostéomyélites (12,8 %) et les septicémies (10,5 %) étaient les principaux diagnostics trouvés. Les agents pathogènes isolés étaient Streptococcus pneumoniae (35,5 %) et Salmonella sp (33,3 %). Les céphalosporines de 3e génération étaient les antibiotiques les plus fréquemment prescrits. Le taux brut de mortalité était de 7,5 %. CONCLUSION: les infections bactériennes et le paludisme dominent le tableau des infections chez l'enfant drépanocytaire majeur au Centre Hospitalier Universitaire Pédiatrique Charles De Gaulle. Les auteurs recommandent la mise en place d'un programme national de prise en charge de la drépanocytose, ce qui permettrait de prévenir voire réduire la survenue des infections chez les enfants drépanocytaires.

Das anemias hereditárias, a falciforme (AF) configura-se como a anemia hemolítica do tipo autossômica recessiva mais prevalente no mundo, determinada por uma alteração da hemoglobina que não consegue transpor-se pelos vasos e fazendo com o que o sistema circulatório apresente difi culdades para levar a oxigenação ao organismo. Visto que na literatura brasileira têm-se ponderações apenas em relação à descrição da prática de atividade física por indivíduos com o traço falciforme, este estudo buscou investigar e pontuar considerações referentes ao desempenho ocupacional de crianças/adolescentes com AF para a realização de atividades físicas. Foi realizado um estudo de natureza qualitativa exploratória e como procedimento de delineamento o estudo de caso, os dados foram coletados utilizando-se a Medida Canadense de Desempenho Ocupacional com 13 sujeitos, crianças/adolescentes com o diagnóstico de AF. Foram constatadas alterações obtidas no desempenho das crianças/adolescentes com AF no que diz respeito às atividades físicas, como a indisposição,cansaço, dor, edema. Contudo, verificou-se que tais acometimentos não são compreensíveis para esta população, e que existem distintos graus de limitação.

Background To examine associations between frequency of emergency room (ER) visits and various parenting styles, both conjointly and interactively, and psychopathological outcomes among pediatric patients with sickle cell disease (SCD). Procedures Ninety-eight parents/caregivers of 6- to 18-year-old patients with SCD completed instruments assessing parenting style, child psychopathology, and reported on the frequency of ER visits during the previous year. Results ER visits were found to significantly explain Withdrawn/Depressed problems and parenting styles were found to incrementally contribute to the explanation of all forms of psychopathology. Further, Permissive parenting was found to explain Rule Breaking Behavior for those patients with low ER visit frequency but not for those with high ER visit frequency. Conclusions Results of the current study confirm the importance of considering both the frequency of ER visits and parenting style in the explanation of psychopathology among pediatric patients with SCD. Results have important implications for both research and treatment. Pediatr Blood Cancer 2014; 61:1822–1827. © 2014 Wiley Periodicals, Inc.

Recurrent and unpredictable episodes of vaso-occlusion are the hallmark of sickle cell disease. Symptomatic management and prevention of these events using the fetal hemoglobin–reactivating agent hydroxyurea are currently the mainstay of treatment. Discoveries over the past 2 decades have highlighted the important contributions of various cellular and soluble participants in the vaso-occlusive cascade. The role of these elements and the opportunities for therapeutic intervention are summarized in this review.

Sickle cell disease (SCD) is the name for a group of related blood disorders caused by an abnormal hemoglobin molecule that polymerizes on deoxygenation. SCD affects the entire body, and the multisystem pathophysiology begins in infancy. Thanks to prognostic and therapeutic advancements, some forms of SCD-related morbidity are decreasing, such as overt stroke. Almost all children born with SCD in developed nations now live to adulthood, and lifelong multidisciplinary care is necessary. This article provides a broad overview of SCD in childhood, from newborn screening through transition to adult medical care.

Rudolf Jaenisch of the Whitehead Institute at MIT is a remarkable scientist at the center of the study of epigenetics. Jaenisch (Figure 1) created the very first transgenic mice and did the first experiment showing that therapeutic cloning could correct a genetic defect. He also conducted the first proof of principle experiments with induced pluripotent stem (iPS) cells to correct sickle cell anemia and Parkinson disease in rodents. Hear more of his stories about his first scientific experiments, how to effectively mentor trainees, and his views on the ethics of stem cell use on the JCI website at http://www.jci.org/videos/cgms

Background and Purpose— There is little evidence about characteristics of ischemic stroke (IS) occurring in adults with sickle-cell disease (SCD). The objective of this study was to assess characteristics of first-ever IS in adults with SCD and to assess whether they differ from those occurring in child patients with SCD. Methods— Adult and child individuals with SCD who had a first-ever IS were identified from cohorts of patients followed up in an adult and a child sickle cell referral center. Mechanisms of IS were determined by consensus meeting from all available explorations using the following predefined classification: Vasculopathy, cardioembolism, other defined cause, and undetermined. Treatment and stroke recurrences were recorded from prospective follow-up performed in the referral centers. Results— Twenty-nine adults and 26 children had a first-ever IS; mean age (SD) was 7.1 (4.3) and 32.3 (11.6), respectively. With regard to IS mechanism, vasculopathy was less often the cause of IS in adults (12/29, 41%) than in children (24/26, 92%; P P log rank=0.046) despite exchange-blood transfusion in patients with vasculopathy. Conclusions— First-ever IS occurring in adults with SCD has specificities that justify further studies conducted in adults with SCD to improve understanding and management.

This case report discusses a patient with sickle cell disease who presented with fungemia from Pichia anomala (teleomorph: Candida pelliculosa). The organism was identified as P. anomala by MALDI-TOF VITEK mass spectrometry and VITEK 2 yeast identification card. Pichia anomala should be considered in sickle cell patients with recurrent fungemia.

The prevalence of sickle cell disease (SCD) is extremely high in the Democratic Republic of Congo (DRC). Despite the high prevalence of this disease in our midst, there has been no report on the clinical features in the sickle cell pediatric population suffering from malaria in our midst.A retrospective survey of records from the Department of Paediatrics of the University Hospital of Kinshasa, Kinshasa, Democratic Republic of Congo, was done for the period 1998–2008. For the 10 years studied, 108 children with SCD were reviewed and the data of those who developed malaria during admission were retrieved and analyzed.Of the 90 homozygous sickle cell children with malaria, fever, pallor, and jaundice were the commonly-found symptoms. Lethargy, severe anemia, respiratory distress, splenomegaly, hepatomegaly,digestive disorders, and prostration were common in children under 5 years, with significant difference (P, 0.05) to the older children. Transfusion because of to severe anemia was found necessary in 54.4% of cases. No case of cerebral malaria was found. Blackwater fever was a rare event. Hand–foot syndrome was present in 12.8% of patients, exclusively in those less than 5 years old. Pain crisis was associated in 46 cases (51.1%). Pain crisis was particularly present in SCD children less than 5 years of age (74.5% vs 25.6%, P , 0.001). No death was observed in this series.We conclude that the acute crisis related to SCD is more common in children less than 5 years of age. High risk of a requirement for blood transfusion was found in young children. Anti-malarial prophylaxis is advocated in Kinshasa.

A cellular-level study of the pathophysiology is crucial for understanding the mechanisms behind human diseases. Recent advances in quantitative phase imaging (QPI) techniques show promises for the cellular-level understanding of the pathophysiology of diseases. To provide important insight on how the QPI techniques potentially improve the study of cell pathophysiology, here we present the principles of QPI and highlight some of the recent applications of QPI ranging from cell homeostasis to infectious diseases and cancer.

To investigate the concordance of blood count indices measured locally and at a central laboratory.In a multi-center clinical trial of hydroxyurea therapy in infants with sickle cell anemia (BABY HUG), the concordance between blood count indices measured locally and at a central laboratory was investigated.Local laboratory measurements of neutrophil and monocyte counts were significantly higher (44% and 37%, respectively) compared to the central measurements (p0.0001), and mean corpuscular volume (MCV) was higher centrally.Overnight shipping with processing delay causes spurious reductions in absolute neutrophil count (ANC) and absolute monocyte count (AMC) that may result in incorrect monitoring decisions in multicenter clinical trials.

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Traveling to and from university-based clinics is a major health care barrier for children with sickle cell disease in Alabama. To reduce this barrier, the University of Alabama at Birmingham (UAB) developed satellite clinics. This study seeks to determine if these satellite clinics provide a similar level of comprehensive care when compared with the university-based clinic using four surrogate markers: 1) attendance rates, 2) percentage of patients on hydroxyurea, 3) percentage of screening MRIs obtained, and 4) percentage of transcranial dopplers (TCD) completed. A retrospective review of sickle cell visits from June 1, 2012 to May 31, 2013 demonstrated that satellite clinics can provide levels of medical care for children with sickle cell disease similar to those provided by university-based clinics.

OBJECTIVES Sickle cell disease (SCD) is associated with a high level of emergency department and hospital utilization, as well as a high rate of hospital readmissions. At Johns Hopkins Hospital, as at other institutions, SCD accounts for a large proportion of readmissions. Our study examined patient and hospitalization factors involved in readmissions at Johns Hopkins Hospital. METHODS Patients at the Johns Hopkins Sickle Cell Center for Adults with a readmission in fiscal year 2011 were compared with an age- and sex-matched sample of clinic patients for comorbidities, complications, and prior utilization. Hospitalizations that were followed by readmissions were compared with those that were not as to admitting service, length of stay, and average daily opioid dose. RESULTS Patients with readmissions had more complications and comorbidities and much higher prior utilization than typical clinic patients, whereas hospitalizations that were followed by readmissions had a longer length of stay but similar opioid doses. CONCLUSIONS For patients with SCD with a high volume of hospital use, readmissions may be a natural consequence of a high-admission frequency associated with greater disease severity and higher comorbidity.

Elevated tricuspid regurgitant velocity (TRV) measured by echocardiogram predicts death in adult sickle cell anemia (SCA)[1][1]–[4][2] and occurs in children,[5][3]–[9][4] although etiology and association with survival and complications requiring hospitalization are unknown. In children

Hemoglobin S polymerization under hypoxic conditions in sickle cell disorders causes characteristic shape changes to human red blood cells. Previous sickling assays used to investigate the efficacy of novel agents to treat these disorders are laborious and observer dependent. Here, we describe a partially automated, high-throughput sickling assay using imaging flow cytometry.

A 19-year-old woman with homozygous sickle cell disease presents to her family physician’s office with acute generalized bone pain. She reports stress from school deadlines. She prefers to manage her pain at home if possible and not go to the emergency department. She has no comorbidities. She

Introduction: Le doppler transcrânien est un outil efficace permettant de dépister les enfants drépanocytaires à risque d'AVC. Méthodes: Nous avons réalisé une étude descriptive transversale sur des enfants Malagasy âgés entre 24 mois et 15 ans (groupe 1: 57 drépanocytaires, groupe 2: 43 témoins) afin d'évaluer le profil vélocimétrique des artères cérébrales chez les drépanocytaires. Un examen Doppler transcrânien a été réalisé avec étude des flux sanguins cérébraux chez les enfants des deux groupes. Résultats: Pour les sujets drépanocytaires, la vitesse moyenne (VM) de l'artère cérébrale moyenne était de 100,9 ± 26,8 cm/s, l'indice de pulsatilité (IP) de 0,73 ± 0,20, la différence entre les artères cérébrales moyennes droite et gauche (ACMr) de 19,8 ± 21,5 cm/s, le rapport des vitesses de l'artère cérébrale antérieure/artère cérébrale moyenne (ACA/ACM) de 0,7 ± 0,2. Pour les enfants non drépanocytaires, VM: 80,6 ± 19,3 cm/s, IP: 0,79 ± 0,14, ACMr: 17 ± 20,1 cm/s, ACA/ACM: 0,8 ± 0,2. La vélocité des enfants drépanocytaires était supérieure au groupe contrôle. Les vitesses ont été corrélées avec le taux d'hémoglobine et l'âge et non pas avec le sexe et le volume globulaire moyen. Conclusion: Les vitesses circulatoires cérébrales sont élevées chez les drépanocytaires que les enfants non drépanocytaires et sont influencées par le taux d'hémoglobine et l'âge.Pan African Medical Journal 2016; 23

Les auteurs rapportent deux cas des lithiases biliaires chez deux enfants de sexe masculin drépanocytaires, complication rare dans la littérature de notre pays. La lithiase biliaire est essentiellement consécutive à une hémolyse chronique et notamment à la drépanocytose. La douleur abdominale est le signe révélateur le plus constant de la lithiase biliaire. Le but de ce travail était de décrire cette pathologie, et de révéler les difficultés de diagnostic et de prise en charge dans un contexte comme le notre.

We outline a case whereby RBCX was successfully provided over disparate geographical areas and time zones in Canada and overcame the logistical challenges of coordinating care across four different health care systems with the application of modern telecommunication technologies. We present this case as a model for other SCD providers and patients.

Resumo O artigo discute a relação entre a aplicação de tecnologias médicas de baixa complexidade e as diversas noções de “cuidado” envolvidas no processo de detecção neonatal da doença falciforme. São analisadas quatro histórias sobre pacientes e suas famílias da cidade de Salvador, Bahia, coletadas durante trabalho de campo etnográfico, escolhidas por condensar vários aspectos sobre a experiência daqueles que convivem com essa doença. Nessas histórias é desvendada a presença de diversos aspectos do que Mol chamou de “lógica do cuidado”, mostrando como a aplicação da tecnologia diagnóstica insere-se em fluxos de “vida” que invocam outros âmbitos da experiência com a biomedicina, relações de família e comunidade.