Article
Co-existence of hereditary spherocytosis and a new red cell pyruvate kinase variant: PK mallorca.
Haematologica - 1 Mar 2000
Zarza R, Moscardó M, Alvarez R, García J, Morey M, Pujades A, Vives-Corrons J L
Abstract excerpt
BACKGROUND AND OBJECTIVE: A partial red blood cell (RBC) pyruvate-kinase (PK-R) deficiency was found in a patient with concomitant hereditary spherocytosis (HS) and chronic hemolytic anemia. Clinical, biological and molecular studies were performed in the patient, his parents and a brother, in order to characterize the specific PK-R gene mutation and the inheritance mechanism of the transmission of both red cell...
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