Definition of Elliptocytosis

Elliptocytosis: 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.