Hémoglobinopathies Double-Hétérozygotes en Pédiatrie du CHU Gabriel Touré
2019
ABSTRACT Introduction. Haemoglobinopathies are genetic diseases characterized by an inherited abnormality of hemoglobin. The aim of our study was to describe the clinical profile of double heterozygotes SC and Sβ thalassemias (Sβ° and Sβ+) in Bamako. Methods: This was a prospective cross sectional observational study on children with double heterozygous sickle cell disease followed at the unit for the management of sickle cell disease at Gabriel Toure Teaching Hospital from October, 1st 2016 to September, 30th 2017. Our data of interest were the type hemoglobin, the clinical presentation and the results of the blood cell count. Results. During the period of study (12 months), we recruited 54 children (sex-ratio of 1.46) out of 803 sickle cell patients. The prevalence of double heterozygotes was 6.75%. The heterozygote SC was the most common composite form (70.4%). Osteoarticular pain was the main reason for consultation (40.7%). Jaundice (61.1%), osteoarticular pain (42.2%) and pallor (20.4%) were the most common clinical signs. Biological anemia (77.8%) and leukocytosis (52%) were common. Conclusion. Double heterozygous hemoglobinopathies are much less frequent than homozygous forms. Their symptomatology is dominated by pain and hemolysis. RESUME Introduction.: Les hemoglobinopathies sont des maladies genetiques caracterisees par une anomalie hereditaire de l’hemoglobine. Le but de notre etude etait de decrire le profil clinique des doubles heterozygoties SC et Sβ thalassemies (Sβ° et Sβ+). Methodes.: Il s’agissait d’une etude transversale descriptive prospective portant sur les enfants drepanocytaires double heterozygotes suivis a l’unite fonctionnelle de prise en charge de la drepanocytose du CHU Gabriel Toure du 1er octobre 2016 au 30 septembre 2017. Nos parametres d’interet etaient le type d’hemoglobine, la presentation clinque et les valeurs de l’hemogramme. Resultats. Au cours de la periode d’etude (12 mois) nous avons recrute 54 enfants (sex-ratio de 1,46) parmi 803 drepanocytaires suivis au service de pediatrie. La frequence des doubles heterozygotes etait de 6,75%. L’heterozygote SC etait la forme composite dominante (70,4%). La douleur osteo articulaire etait le principal motif de consultation (40,7%). L’ictere (61,1%), la douleur osteoarticulaire (42,2%) et la pâleur (20,4%) etaient les signes cliniques les plus retrouves. Une anemie (77.8%) et une hyperleucocytose (51%) etaient les anomalies biologiques les plus frequentes. Conclusion. Les hemoglobinopathies doubles heterozygotes sont 15 fois moins frequentes que les formes homozygotes. Leur symptomatologie est dominee par la douleur et l’hemolyse.
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