Hemolytic anemia due to red cell pyruvate kinase deficiency

Orpha code: 766OMIM code: 266200

Definicja

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
Klasyfikacja

Disease

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

No additional description.

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