Hereditary elliptocytosis

Hereditary elliptocytosis is a blood disorder in which 50-90% of the red blood cells consist of rod forms and elliptocytes (that is, elliptical erythrocytes); often associated with a hemolytic anemia.

There are several autosomal dominant forms , 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 known.

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