" /> Sickle cell disease - CISMeF





Preferred Label : Sickle cell disease;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sickle cell anemia;

Description : Sickle cell anemia is a multisystem disease associated with episodes of acute illness and progressive organ damage. Hemoglobin polymerization, leading to erythrocyte rigidity and vasoocclusion, is central to the pathophysiology of the disease, but the importance of chronic anemia, hemolysis, and vasculopathy has been established. The most common cause of sickle cell anemia is the HbS variant (141900.0243), with hemoglobin SS disease being most prevalent in Africans (review by Rees et al., 2010).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the hemoglobin beta gene (HBB, 141900.0243);

Prefixed ID : #603903;

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29/07/2025


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