This site is intended for healthcare professionals

Go to /sign-in page

You can view 5 more pages without signing in

Hereditary elliptocytosis

Authoring team

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

Create an account to add page annotations

Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

Connect

Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.