Résumé
Iron overload in sickle cell disease is a common issue and is responsible for increased morbidity and mortality. It primarily occurs in a post-transfusion context but not exclusively. Indeed, among the risk factors of iron overload, there are likely genetic predispositions. In France, the majority of sickle cell disease have African origin. In this population, there is a phenotype of iron overload known as African hemosiderosis. It is multifactorial origin and associated with the presence of the Q248H variant of the SLC40A1 gene coding for ferroportin. We hypothesized that this variant is significantly over-represented in iron-overloaded sickle cell disease patients. This study presents the retrospective data collection of a sickle cell disease population with iron overload follow at the Montpellier University Hospital and the prospective search of the Q248H variant.