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Hemolytic anemia due to adenylate kinase deficiency

Disease definition

Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.


  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: D55.3
  • OMIM: 612631
  • UMLS: C2675459
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

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