Hereditary Elliptocytosis Differential Diagnoses

Updated: Jul 31, 2023
  • Author: Daniel J Kim, MD, MS; Chief Editor: Emmanuel C Besa, MD  more...
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Diagnostic Considerations

Hereditary elliptocytosis (HE) must be differentiated from hereditary spherocytosis (HS), which is the most common red blood cell (RBC) membranopathy. HS is characterized by the presence of spherical-shaped RBCs on peripheral blood smears and most commonly has autosomal dominant inheritance. SPTB mutations identified in HE affect the tetramerization domain but in HS the mutation effects are distributed between the actin-binding domain and spectrin repeats. [12]  

Differential Diagnoses