Red blood cell PK deficiency: An update of PK-LR gene mutation database.

Abstract excerpt

Pyruvate kinase (PK) deficiency is known as being the most common cause of chronic nonspherocytic hemolytic anemia (CNSHA). Clinical PK deficiency is transmitted as an autosomal recessive trait, that can segregate neither in homozygous or in a compound heterozygous modality, respectively. Two PK genes are present in mammals: the pyruvate kinase liver and red blood cells (PK-LR) and the pyruvate kinase muscle...

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• Share to Anemia, Hemolytic, Congenital Nonspherocytic
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