Article
Red cell pyruvate kinase deficiency: from genetics to clinical manifestations.
Bailliere's best practice & research. Clinical haematology - 1 Mar 2000
Zanella A, Bianchi P
Abstract excerpt
Pyruvate kinase deficiency is the most frequent enzyme abnormality of the Embden-Meyerhof 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. Splenectomy should be reserved for young patients who require regular blood...
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