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Electrophoretic demonstration of heterozygosis in hereditary pyruvate kinase deficiency

✍ Scribed by A. Kahn; Joelle Marie; J. L. Vives-Corrons

Publisher
Springer
Year
1979
Tongue
English
Weight
206 KB
Volume
47
Category
Article
ISSN
0340-6717

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✦ Synopsis

The defective PK variant of a patient with a severe form of hemolytic anemia was characterized by its inability to undergo a normal 'proteolytic maturation.' In obligatory heterozygotes it could be proved that red cells contained different PK species, some of them sensitive and the others partially resistant to the action of trypsin.

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## Abstract In this study, possible adverse effects of pyruvate kinase (PK) deficiency on the maturation of erythroid progenitors were investigated. A 4‐year‐old Japanese girl with severe PK deficiency underwent splenectomy to reduce her need for blood transfusions. The spleen was examined a histol