Article
Red cell pyruvate kinase deficiency: molecular and clinical aspects.
British journal of haematology - 1 Jul 2005
Zanella Alberto, Fermo Elisa, Bianchi Paola, Valentini Giovanna
Abstract excerpt
Red cell pyruvate kinase (PK) deficiency is the most frequent enzyme abnormality of the glycolytic pathway causing hereditary non-spherocytic haemolytic anaemia. The degree of haemolysis varies widely, ranging from very mild or fully compensated forms, to life-threatening neonatal anaemia and jaundice necessitating exchange transfusions. Erythrocyte PK is synthesized under the control of the PK-LR gene located on...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
