Hemolytic anemia due to red cell pyruvate kinase deficiency
ORPHA:766· ICD-10 D55.2
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.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal