- Hematologic disorder characterized by elliptically shaped red blood cells (elliptocytosis) with variable breakup of red cells (hemolysis) and varying degrees of anemia. Inherited as a dominant trait. Due to mutation (change) in one of the genes encoding proteins of the red cell membrane skeleton. In 1956 Newton Morton brilliantly showed that there were at least 2 forms of elliptocytosis, one form linked to the Rh blood group and another form not linked to Rh (now known to be on chromosome 1). The Rh-linked form, called EL1, in is due to a mutation in erythrocyte membrane protein 4.1. Forms of elliptocytosis not linked to Rh are due to mutations in the alpha-spectrin gene, the beta-spectrin gene, or the band 3 gene. The linkage between elliptocytosis and Rh was one of the first autosomal linkages discovered.
* * *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, while 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. SYN: ovalocytosis.
* * *el·lip·to·cy·to·sis i-.lip-tə-.sī-'tō-səs n, pl -to·ses -.sēz a human hereditary trait manifested by the presence in the blood of red blood cells which are oval in shape with rounded ends called also ovalocytosis compare SICKLE-CELL TRAIT
* * *n.the presence of significant numbers of abnormal elliptical red cells (elliptocytes) in the blood. Elliptocytosis may occur as a hereditary disorder or be a feature of certain blood diseases, such as myelofibrosis or iron-deficiency anaemia.
* * *el·lip·to·cy·to·sis (e-lip″to-si-toґsis) presence of large numbers of elliptocytes in the blood; called also ovalocytosis.
Medical dictionary. 2011.