Elliptocytosis 1

Elliptocytosis is a hematologic disorder characterized by elliptically shaped erythrocytes and a variable degree of hemolytic anemia. Usually inherited as an autosomal dominant trait, elliptocytosis results from mutation in any one of several genes encoding proteins of the red cell membrane skeleton (summary by McGuire et al., 1988). Genetic Heterogeneity of Elliptocytosis Elliptocytosis-2 (130600) is caused by mutation in the SPTA1 gene (182860). Elliptocytosis-3 (617948) is caused by mutation in the SPTB gene (182870). Elliptocytosis-4 (166900), also known as Southeast Asian ovalocytosis, is caused by mutation in the SLC4A1 gene (109270). Also see pyropoikilocytosis (266140). See Delaunay (2007) for a discussion of the molecular basis of hereditary red cell membrane disorders. [from OMIM]