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Hemolytic anemia due to adenylate kinase deficiency

ORPHA:86817· ICD-10 D55.3

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.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal recessive
Age of onset
Childhood, Infancy, Neonatal