Article
[From gene to disease; hereditary non-spherocytic hemolytic anemia caused by pyruvate kinase deficiency].
Nederlands tijdschrift voor geneeskunde - 28 Sept 2002
de Vooght K M K, van Wijk R, Nieuwenhuis H K, Ploos van Amstel J K, Rijksen G, van Solinge W W
Abstract excerpt
Pyruvate kinase (PK) deficiency is a common cause of hereditary non-spherocytic haemolytic anaemia. It is an autosomal recessive disorder caused by mutations in the gene coding for erythrocyte and liver-type pyruvate kinase (PKLR). So far, more than 130 mutations in this gene have been identified. Clinical symptoms, usually restricted to homozygous and compound-heterozygous individuals, are variable, ranging from...
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