- Presence of elliptocytes on peripheral blood smear (fragmented red blood cells may also be seen).
- 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:
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