Hereditary elliptocytosis

Hereditary elliptocytosis is an inherited autosomal dominant disorder in which red cells acquire elliptocytic shapes in the circulation as they are subjected to the normal circulatory shear stresses, for example passage through capillaries. It is relatively common, especially the mild form, with an incidence of 1 in 2500.

The predisposition to poikilocytosis results from various molecular abnormalities in the red cell membrane skeleton, most commonly:

• dysfunctional spectrins of various kinds
• spectrin deficiency
• Band 4.1 defects
• deficiency of Glycophorin C

Severe defects are associated with fragmentation, and occasionally, anaemia. Splenectomy is rarely required, but is very successful where indicated.

Different syndromes are recognised:

• mild
• with neonatal poikilocytosis
• hereditary pyropoikilocytosis
• spherocytic

Reference

1. Jha S et al. Hereditary Elliptocytosis. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan. 2024 Feb 26.