Hemolytic anemia due to red cell pyruvate kinase deficiency

Orpha code: 766OMIM code: 266200

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.

Disease data
Classification

Disease

Synonyms
Pyruvate kinase deficiency of erythrocytes
Niedobó kinazy pirogronowej erytrocytów
ORPHA code
766
OMIM code
266200
ICD10 code
D55.2
ICD11 code
3A10.Y

No additional description.

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