Hereditary elliptocytosis Elliptocytes are the major or predominant feature on the blood film: Generally defective association of spectrin into tetramers or impaired anchorage of spectrin to other proteins of the erythrocyte membrane. Most commonly caused by mutations affecting the beta subunit of spectrin.
Hereditary pyropoikilocytosis
Severe membrane instability produces both elliptocytes and greatly distorted or fragmented cells. These conditions often involve homozygosity for spectrin defects or the combination of spectrin defects and a separate inherited abnormality of membrane proteins.
Other causes
Elliptocytes present together with a range of other cell types: A smaller number of elliptocytes occur when red cells are damaged in other conditions including thalassaemia, myelofibrosis and haematinic deficiency (megaloblastic anaemia or iron deficiency).
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