Author(s): Marie-Hélène Jouvin, Chris Bowden Abstract: PF383 Session topic: 29. Enzymopathies, Membranopathies and Other Anemias Background: Pyruvate kinase (PK) deficiency is an under-recognized hereditary disease resulting in lifelong hemolytic anemia. PK deficiency is caused by mutations in the PKLR gene that lead to reduced red cell PK (PK-R) enzyme activity, resulting in...
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