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EncyclopediaSeeelliptocytosisovalocytosis
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): ovalocytosisovalocytosis Hematology A condition seen in up to 30% of ethnic groups in southeast Asia caused by a defective band 3 protein, in which there is ↑ affinity of RBC membrane band 3 to ankrin, resulting in a ↑ in RBC rigidity. See Elliptocytosis. 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, often with an associated hemolytic anemia.
Synonym(s): ovalocytosis. ovalocytosis 1. A change in a small proportion of red blood cells to an elliptical form occurring in various forms of anaemia. 2. A hereditary condition in which most of the red blood cells are of oval shape. It is usually BENIGN but sometimes causes HAEMOLYTIC ANAEMIA. 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. |