Pyruvate Kinase Deficiency Genetics
New pyruvate kinase deficiency genetics study findings have been published by A. Zanella and colleagues
Published in Hematology Week, August 6th, 2007
A new study, "Pyruvate kinase deficiency: the genotype-phenotype association," is now available. "Red cell pyruvate kinase (PK) deficiency is the most frequent enzyme abnormality of glycolysis causing chronic non-spherocytic haemolytic anaemia. The disease is transmitted as an autosomal recessive trait, clinical symptoms usually occurring in compound heterozygotes for two mutant alleles and in homozygotes," scientists in Milan, Italy report.
"The severity of haemolysis is highly variable, ranging from very mild or fully compensated forms to life-threatening neonatal anaemia necessitating exchange transfusions. Erythrocyte PK is synthesised under the control of the PK-LR...
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Source: Hematology Week (2007-08-06)
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