Elliptocytosis hereditary

Hereditary elliptocytosis (HE) is the consequence of a genetic defect of the red blood cell membrane produced by mutations in the genes coding for membrane proteins. Clinical presentation of this disorder is highly variable according to the type and severity of the gene mutation. In heterozygous condition, anaemia is slight or absent and in homozygous or compound heterozygous conditions, anaemia is severe and associated with abnormal red blood morphology and shape (poikilocytosis; hereditary pyropoikilocytosis). Thus the diagnosis is established by examination of the morphology of red blood cells. There is no specific treatment for hereditary elliptocytosis and severe cases may partially respond to spleen removal (splenectomy).

Synonym: Ovalocytosis hereditary