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pyruvate kinase deficiency

 

Definition: a disorder in which there is a deficiency of pyruvate kinase in red blood cells; characterized by hemolytic anemia varying in degree from one patient to another; autosomal recessive inheritance, caused by mutation in the pyruvate kinase liver and red blood cell gene (PKLR) on chromosome 1 q.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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