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Hereditary elliptocytosis

ORPHA:288· ICD-10 D58.1

Definition

Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.

Prevalence
1-5 / 10 000
Inheritance
Autosomal dominant, Autosomal recessive
Age of onset
All ages