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Hereditary spherocytosis

Disease definition

Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.

ORPHA:822

  • Synonym(s):
    • Minkowski-Chauffard disease
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: D58.0
  • OMIM: 182900  270970  612653  612690  616649
  • UMLS: C0037889  C0221409
  • MeSH: C536356  D013103
  • GARD: 6639
  • MedDRA: 10019904

Detailed information

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