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Hemolytic anemia due to red cell pyruvate kinase deficiency

Disease definition

A rare, genetic metabolic disorder due to pyruvate kinase deficiency characterized by a variable degree of chronic nonspherocytic hemolytic anemia resulting in a variable clinical manifestations ranging from fatal anemia at birth to a to a fully compensated hemolysis without apparent anemia.

ORPHA:766

Classification level: Disorder
  • Synonym(s):
    • Pyruvate kinase deficiency of erythrocytes
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D55.2
  • OMIM: 266200
  • UMLS: C0340968
  • MeSH: -
  • GARD: 7514
  • MedDRA: -

Detailed information

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