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elliptocytosis
elliptocytosis[ə‚lip·tə‚sī′tō·səs] (medicine) A rare hereditary disease of man characterized by the presence of large numbers of oval or elliptic erythrocytes in the circulating blood. elliptocytosis
elliptocytosis [e-lip″to-si-to´sis] any of several hereditary disorders in which most of the erythrocytes are elliptocytes; it is characterized by increased erythrocyte destruction and anemia.el·lip·to·cy·to·sis (ē-lip'tō-sī-tō'sis), A hematologic disorder in which 50-90% of the red blood cells consist of rod forms and elliptocytes; often associated with a hemolytic anemia. There are several autosomal dominant forms [MIM*130500, MIM*130600, and MIM*179650], with one form linked to the Rh blood group, caused by mutation in the gene encoding erythrocyte membrane protein band 4.1 (EPB41) on chromosome 1p, whereas the unlinked form is due to mutation either in the alpha-spectrin gene on 1q, or in the beta-spectrin gene on 14q or the band 3 gene on 17q. There is one autosomal recessive form [MIM*225450] known. Synonym(s): ovalocytosisel·lip·to·cy·to·sis (ē-lip'tō-sī-tō'sis) A hereditary abnormality of hemopoiesis in which 50-90% of the red blood cells consist of rod forms and elliptocytes, often with an associated hemolytic anemia.
Synonym(s): ovalocytosis. elliptocytosis Oval-shaped red blood cells. A small proportion of oval cells occurs in MEGALOBLASTIC ANAEMIA and HYPOCHROMIC ANAEMIA. A high proportion suggests an unimportant dominant hereditary disorder.el·lip·to·cy·to·sis (ē-lip'tō-sī-tō'sis) A hereditary abnormality of hemopoiesis in which 50-90% of the red blood cells consist of rod forms and elliptocytes.
Synonym(s): ovalocytosis. AcronymsSeeelected |