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Pyruvate Kinase Deficiency

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Hemolytic Anemia in Disorders of Red Cell Metabolism

Part of the book series: Topics in Hematology ((TOHE))

Abstract

Hereditary nonspherocytic hemolytic anemia is a relatively recently recognized entity. It was first discussed in detail by Dacie et al, in 1953,1 and by 1960 over 60 cases had been reported.2 Motulsky et al.3 noted increased 2,3-DPG levels in several patients with hereditary nonspherocytic hemolytic anemia. De Gruchy et al.2 described seven cases; three were designated type II according to the classification of Selwyn and Dacie4 in that autohemolysis was increased and not corrected by glucose. Finding that the red cell ATP levels were reduced and that autohemolysis was corrected by the addition of exogenous ATP, the authors proposed:

... most likely... the destruction of the red cells in this disorder is related to a defect in glycolysis which results in an impairment of energy production and thus in an impairment of structural integrity; this in turn results in premature destruction of the red cells by the normal mechanisms of destruction.

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    Ernest Beutler M.D.

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Beutler, E. (1978). Pyruvate Kinase Deficiency. In: Hemolytic Anemia in Disorders of Red Cell Metabolism. Topics in Hematology. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-2457-7_3

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