Jun

14

2022

How is hereditary elliptocytosis (HE) diagnosed?

By William Aird

  • Presence of elliptocytes on peripheral blood smear (fragmented red blood cells may also be seen).
  • Associated with increased osmotic fragility.
  • Osmotic gradient ektacytometry shows characteristic deformability profiles with curve exhibiting a trapezoidal form with a decrease in the RBC deformability.
  • DNA testing panels can define the pathogenic mutations in alpha-spectrin, beta-spectrin, and protein 4.1 in HE.

International Council for Standardization in Haematology (ICSH) guidelines one laboratory diagnosis of nonimmune hereditary red cell membrane disorders:

Osmotic deformability profiles of red cells from normal control and HE. HE is characterized by a trapezoidal curve with moderately decreased IDmax but normal Omin and Ohyper results.

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