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Hereditary elliptocytosis

Disease 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.

ORPHA:288

  • Synonym(s):
    • HE
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: D58.1
  • OMIM: 130600  235370  611804
  • UMLS: C0013902
  • MeSH: D004612
  • GARD: 6621
  • MedDRA: 10014490

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