BACKGROUND:Newborn screening for sickle cell anemia is necessary in Africa where the disease is more frequent. Hemoglobin electrophoresis is used for screening, but is limited by a high cost and difficult access. Sickling test (Emmel test), which is more affordable and technically more accessible, is often requested for prenatal assessment of pregnant women in West African areas to reserve screening for newborns from mothers in whom the positive sickling test attests the presence of hemoglobin S. This study aims to evaluate the number of undetected sickle cell anemia newborns by a screening policy targeting only newborns from mothers in whom a sickling test would have been positive. METHODS:From 2010 to 2012, in Bamako, Mali, West Africa, 2489 newborns were routinely screened for sickle cell anemia at the umbilical cord or heel by isoelectrofocusing and, if necessary, by high-performance liquid chromatography. These newborns were born from 2420 mothers whose hemoglobin was studied by isoelectrofocusing. The data was recorded and processed using Excel software version 14.0.0. We calculated the frequency of the sickle cell gene in mothers and newborns as well as the number of SCA newborns from heterozygous or C homozygous mothers. RESULTS:Of the 2489 newborns, 16 had sickle cell anemia (6 SS and 10 SC); 198 had the sickle cell trait; 139 were AC and 1 was CC. Of the 10 newborns with SC profile, 3 were born from mothers not carrying the S gene but the C gene of hemoglobin and in which an Emmel test would have been negative. CONCLUSION:Targeted newborn screening, based on the results of sickling test in pregnant women, would misdiagnose more than one of six sickle cell anemia newborns who would not benefit from early care. Cost-effectiveness studies of routine newborn screening for sickle cell anemia should lead to a better screening strategy in contexts where hemoglobin S and other hemoglobin defect genes coexist.

Hydroxyurea (HU) is the only drug which has demonstrated efficacy in terms of reduced incidence of VOC and ACS, reduced need for hospitalization and reduced number of blood transfusion in sickle cell disease. African countries are among those with highest rate of both malaria and sickle cell disease. Despite of that the heterozygous form (HbAS) is known to protect against malaria, there is no documented studies on the clinical effect of HU on malaria. 36 patients aged 4 to 60 years old and treated by HU at the sickle cell disease research and control center of Bamako for at least 2 years. The treated group was compared to a matched untreated sickle cell patients group. During the follow-up, malaria incidence and onset to clinical episode of malaria were compared between treated SCD patients and untreated group. Results of the comparison show that there is no increased incidence of malaria in the treated group after 2 years follow-up (P=0.9). However, a reduction on the time to first malaria episode within the sickle cell population treated with HU was observed (P=0002).Based on this observed reduced time to first malaria episode in HU treated SCD patients, the use of HU in malaria endemic areas needs to be revaluated. It is howether clear that a more comprehensive approach would hopefully reduce the morbidity due to HU use for SCD affected children.

Transfusion MedicineVolume 26, Issue 2 p. 153-155 LETTER TO THE EDITOR Transmission of Plasmodium falciparum by red blood cell transfusions in the management of sickle cell disease patients in Mali A. Guindo, A. Guindo Centre de Recherche et de Lutte contre la Drépanocytose (CRLD), Bamako, MaliSearch for more papers by this authorB. A Touré, B. A Touré Centre de Recherche et de Lutte contre la Drépanocytose (CRLD), Bamako, MaliSearch for more papers by this authorP. Guindo, P. Guindo Centre de Recherche et de Lutte contre la Drépanocytose (CRLD), Bamako, MaliSearch for more papers by this authorM. A. Baraika, M. A. Baraika Centre de Recherche et de Lutte contre la Drépanocytose (CRLD), Bamako, MaliSearch for more papers by this authorY. S. Sarro, Y. S. Sarro Centre de Recherche et de Lutte contre la Drépanocytose (CRLD), Bamako, MaliSearch for more papers by this authorB. Fané, B. Fané Centre de Recherche et de Lutte contre la Drépanocytose (CRLD), Bamako, MaliSearch for more papers by this authorO. Tessougué, O. Tessougué Centre de Recherche et de Lutte contre la Drépanocytose (CRLD), Bamako, MaliSearch for more papers by this authorA. Dorie, A. Dorie Centre de Recherche et de Lutte contre la Drépanocytose (CRLD), Bamako, Mali International Technical Expert of French Cooperation, Bamako, MaliSearch for more papers by this authorK. Traoré, K. Traoré National Malaria Control Program, Ministry of Health, Bamako, MaliSearch for more papers by this authorD. A. Diallo, Corresponding Author D. A. Diallo Centre de Recherche et de Lutte contre la Drépanocytose (CRLD), Bamako, Mali Service d'hématologie oncologie médicale, CHU du Point G, Bamako, Mali Correspondence: D. A. Diallo, Professor of Hematology, Head of the Department of Hematology, Director of Sickle Cell Research and Control Center, Centre de Recherche et de Lutte contre la Drépanocytose (CRLD), Bamako, Mali. Tel.: +223 20 22 38 98; fax: +223 20223899; e-mail: dadiallo@icermali.orgSearch for more papers by this author A. Guindo, A. Guindo Centre de Recherche et de Lutte contre la Drépanocytose (CRLD), Bamako, MaliSearch for more papers by this authorB. A Touré, B. A Touré Centre de Recherche et de Lutte contre la Drépanocytose (CRLD), Bamako, MaliSearch for more papers by this authorP. Guindo, P. Guindo Centre de Recherche et de Lutte contre la Drépanocytose (CRLD), Bamako, MaliSearch for more papers by this authorM. A. Baraika, M. A. Baraika Centre de Recherche et de Lutte contre la Drépanocytose (CRLD), Bamako, MaliSearch for more papers by this authorY. S. Sarro, Y. S. Sarro Centre de Recherche et de Lutte contre la Drépanocytose (CRLD), Bamako, MaliSearch for more papers by this authorB. Fané, B. Fané Centre de Recherche et de Lutte contre la Drépanocytose (CRLD), Bamako, MaliSearch for more papers by this authorO. Tessougué, O. Tessougué Centre de Recherche et de Lutte contre la Drépanocytose (CRLD), Bamako, MaliSearch for more papers by this authorA. Dorie, A. Dorie Centre de Recherche et de Lutte contre la Drépanocytose (CRLD), Bamako, Mali International Technical Expert of French Cooperation, Bamako, MaliSearch for more papers by this authorK. Traoré, K. Traoré National Malaria Control Program, Ministry of Health, Bamako, MaliSearch for more papers by this authorD. A. Diallo, Corresponding Author D. A. Diallo Centre de Recherche et de Lutte contre la Drépanocytose (CRLD), Bamako, Mali Service d'hématologie oncologie médicale, CHU du Point G, Bamako, Mali Correspondence: D. A. Diallo, Professor of Hematology, Head of the Department of Hematology, Director of Sickle Cell Research and Control Center, Centre de Recherche et de Lutte contre la Drépanocytose (CRLD), Bamako, Mali. Tel.: +223 20 22 38 98; fax: +223 20223899; e-mail: dadiallo@icermali.orgSearch for more papers by this author First published: 22 March 2016 https://doi.org/10.1111/tme.12294Citations: 2Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Citing Literature Volume26, Issue2April 2016Pages 153-155 RelatedInformation

La vasculopathie drépanocytaire expose à un risque élevé d’accident vasculaire cérébral (AVC) pouvant entraîner le décès ou un handicap important. Le doppler transcrânien (DTC) permet d’identifier les drépanocytaires à risque de cette complication majeure de la maladie, afin de réduire par un traitement approprié, la morbidité et la mortalité qu’elle peut engendrer. De 2008 à 2013, nous avons effectué un dépistage systématique de la vasculopathie cérébrale par DTC chez 572 drépanocytaires, âgés de 1 à 17 ans et répartis entre 375 sujets SS, 144 SC, 26 S/β0 et 27 S/β+ thalassémiques. Après exclusion de 30 cas de DTC incomplets et d’un cas de DTC pathologique observé dans un contexte de défaillance multiviscérale, nous avons constaté un résultat pathologique ou limite chez 18 % des 541 enfants examinés à l’état basal. Les prévalences de DTC pathologique les plus élevées ont été observées chez les homozygotes SS (8,1 %). Aucun cas de DTC anormal n’a été observé chez les enfants S/β+thalassémiques. Les taux d’hémoglobine (Hb) étaient significativement plus bas en cas de résultat au DTC limite ou pathologique. Parmi 68 enfants dont les résultats étaient limites, 9 (13 %) ont présenté des résultats pathologiques au bout d’un an de suivi. Dans ce groupe, une diminution ou une augmentation du taux d’Hb de base était prédictive d’un résultat limite ou pathologique au contrôle. Les enfants dont le résultat était pathologique ont bénéficié, autant que possible, de transfusions ou d’échanges transfusionnels mensuels. Un cas d’AVC transitoire sans signe neurologique, dans un contexte de déglobulisation massive par paludisme et un décès ont été observés. Ces résultats soulignent la nécessité de la pratique systématique du DTC au cours du suivi de l’enfant drépanocytaire et l’urgence de la mise en œuvre de programmes de transfusions chroniques adaptés aux contextes de difficultés d’accès à des transfusions régulières et sécurisées.

Cerebral vasculopathy exposes patients to a high risk of stroke, a major complication of sickle cell disease (SCD) associated with a high risk of death and disability. Transcranial doppler (TCD) ultrasonography used to identify SCD patients at risk of stroke may contribute to significantly reducing morbidity and mortality in these patients by indicating appropriate treatment. From March 2008 to February 2013, we conducted systematic screening for cerebral vasculopathy using TCD in 572 SCD patients (including 375 SS, 144 SC, 26 S/beta(0), and 27 S/beta(+) thalassemia patients) aged 1-17 years in a comprehensive center for follow-up and research on sickle cell disease in Bamako, Mali. After exclusion of 30 inadequate results and one case of abnormal TCD observed in a multiple organ failure patient, we found an abnormal or conditional TCD in 18% of 541 children examined in a steady state. The highest prevalence of abnormal cases concerned homozygous SS patients (8.1%). No case of abnormal or conditional TCD was observed in children with S/beta(+) thalassemia. Hemoglobin concentrations were significantly lower in patients with conditional or abnormal TCD (P < 0.01). In a subgroup of 68 patients with conditional TCD, nine (13%) converted to abnormal TCD over 1 year. In this subgroup of 68 conditional TCD patients, a decrease or increase in baseline hemoglobin concentration was predictive of conditional or abnormal TCD at the follow-up visit. Progression towards conditional TCD was observed in four patients (0.9%) who initially had normal TCD. Children with abnormal TCD had, whenever possible, a monthly exchange transfusion program. One case of transient stroke in the context of P. falciparum malaria with low hemoglobin concentration and one death were observed. These findings highlight the need for systematic TCD in sickle cell disease monitoring and implementing regular blood transfusion programs in the context of limited access to regular and secure blood transfusions. (C) 2015 Elsevier Masson SAS. All rights reserved.

Sickle cell disease (SCD) is a chronic disorder affecting erythrocytes and is especially prevalent throughout Sub-Saharan Africa where malaria is thought to be a significant cause of morbidity and mortality in affected individuals. In the absence of effective malaria vaccine, one of the affordable alternatives to prevent malaria at present is chemoprophylaxis. In order to evaluate the effectiveness of a monthly intermittent prophylaxis treatment (IPT) with sulfadoxine-pyrimethamine (SP) during high malaria transmission season in patients with sickle cell disease, two groups of SCD patients from two different sites were compared. The first group constituted of patients followed at the Sickle Cell Disease Research and Control Center of Bamako where IPT is routinely administered while the second group consisted of individuals enrolled in the health district in the same locality but no malaria prophylaxis. In this area, the incidence of resistance of P.falciparum to SP is estimated < 10%. SP combination was administrated as follows: sulfadoxine 25mg/kg and pyrimethamine 1.25mg/kg. For both groups, diagnosis of malaria was performed by using the rapid diagnosis test for the presence of P.falciparum. From 2011 to 2012, 687 SCD patients (457 from the Sickle Cell Disease Research and Control Center and 115 from the health district) were enrolled. The observed prevalence of malaria infection in the group receiving a monthly IPT by SP (1.5%) was much lower than the group (6%) for which IPT was not offered (P=0.01). When data was stratified by hemoglobin genotypes, malaria was found to occur entirely in SS and SC patients and no malaria cases were observed in S/β-thalassemia patients. SP was well tolerated since no patient in SP arm reported pruritus and no serious adverse events including death were recorded during the study. In malaria endemic areas where the incidence of resistance to SP is low, anti-malarial prophylaxis with this combination therapy significantly reduced the incidence of malaria in SCD patients with good safety and a lower cost.

Red cell transfusion is one of the main treatments in sickle cell disease. However there are potential risks of blood transfusions. In order to propose strategies to improve blood safety in sickle cell disease in Mali, we conducted a prospective study of 133 patients with sickle cell anemia recruited at the sickle cell disease research and control center of Bamako, November 2010 to October 2011. The study aimed to determine the prevalence of human immunodeficiency virus (HIV), hepatitis B virus (HBV), and hepatitis C virus (HCV) infections by serum screening and the frequency of red cell alloimmunization before and after blood transfusion. The diagnosis of sickle cell syndrome was made by HPLC, the detection of markers of viral infection was performed by ELISA, and the diagnosis of alloimmunization was conducted by the Indirect Coombs test. Prevalence of viral infections observed at the time of enrolment of patients in the study was 1%, 3% and 1% respectively for HIV, HBV and HCV. Three cases of seroconversion after blood transfusion were detected, including one for HIV, one for HBV and one another for HCV in sickle cell anemia patients. All these patients had received blood from occasional donors. The red cell alloimmunization was observed in 4.4% of patients. All antibodies belonged to Rh system only. Blood transfusion safety in sickle cell anemia patients in Mali should be improved by the introduction of at least the technique for detecting the viral genome in the panel of screening tests and a policy of transfusions of blood units only from regular blood donors.

Les accidents vasculaires cérébraux (AVC) sont une réalité en pédiatrie et, quel que soit l’âge du patient, leur prise en charge doit mettre en œuvre les moyens adaptés. L’hospitalisation en unité de soins continus ou de réanimation est recommandée. Les traitements symptomatiques sont tous applicables à l’enfant et recommandés, qu’il s’agisse du maintien de l’homéostasie ou de l’échange transfusionnel des drépanocytaires. Les traitements spécifiques tels que la thrombolyse ou la thrombectomie mécanique ne sont pas recommandés chez l’enfant. Les adolescents peuvent cependant en bénéficier au cas par cas après discussion multidisciplinaire et peuvent être pris en charge en unité neurovasculaire d’adultes. Les indications chirurgicales sont adaptées de celles de l’adulte. La prise en charge des thromboses veineuses cérébrales est identique à celle de l’adulte. Le dialogue multidisciplinaire entre neuropédiatre et médecin(s) d’adulte est préconisé afin de permettre une prise en charge optimale.Stroke in children is not rare. Although there are no randomized trials on childhood stroke, except in sickle cell disease patients, several international guidelines have described quality criteria for stroke management in children. Age-adapted management is required, involving collaboration with a pediatric neurologist and hospitalization in a pediatric intensive care or continuous care unit. All symptomatic treatments used in adults can be recommended in children, including homeostasis assessment and maintenance or blood exchange in sickle cell disease patients. Specific treatments such as thrombolysis or mechanical thrombectomy are not recommended in children, except in the framework of clinical trials, but can be beneficial in adolescents. Multidisciplinary decision-making should be the rule in such situations. Adolescents may be managed in adult stroke units. Indications for surgery in children are adapted from adult guidelines. Appropriate management of cerebral venous thrombosis in children is similar to that in adults. The best management possible can be achieved through a multidisciplinary dialogue between the pediatric neurologist and the adult intensivist or neurologist.

Human parvovirus B19 (HP-19) is the only Parvoviridae known to be pathogenic in human. Studies of HP-19 infection and its associated life-threatening complications in sickle cell anemia patients have been reported in Europe and the US. These results justify the development of HP-B19 prevention and strategies to reduce the incidence of severe and life-threatening complications associated with the infection in patients with sickle cell anemia, particularly in sub-Saharan Africa where the sickle cell anemia burden is high. In light of these considerations, we conducted a case-control study including 163 patients with sickle cell anemia and 163 controls. HP-B19 diagnosis was based on the detection of IgG and IgM antibodies specific for HP-B19 using commercially available enzyme immunoassays. Anti-human parvovirus B19 IgG antibodies were found in 105 of 193 (64.8%) patients vs 79 of 193 controls (48.4%). IgM antibodies were found at a higher frequency in sickle cell anemia patients than in controls. This higher frequency was found to be age-dependent. However, the reticulocyte count showed no significant decrease in Malian patients with sickle cell anemia. Further studies are needed to better characterize the implication of HP-B19 infection in sickle cell anemia mortality and morbidity and to develop preventive strategies and efficient management of the resulting complications.