Medical Technology Blog

Topic: Blood

Elliptocytosis is a hereditary disorder of the red blood cells (RBCs). In this condition, the RBCs assume an elliptical shape, rather than the typical round shape.

Elliptocytosis:(audio pronunciation)

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.  Elliptocytosis is frequently harmless. In mild cases, fewer than 15% of red blood cells are oval-shaped. However, some people may have crises in which the red blood cells rupture, releasing their hemoglobin. Persons with this disease can develop anemia, jaundice, and gallstones.

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.

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