Abstract
Pyruvate kinase (PK) deficiency due to mutations of the PKLR gene is a common cause of hereditary nonspherocytic hemolytic anemia. Thus far, 55 different mutations have been described in patients with PK-deficient hemolytic anemia. Polymorphisms within the PKLR gene and in the tightly linked glucocerebrosidase (GBA) gene suggest that PK deficiency may represent a balanced polymorphism.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
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Review
MeSH terms
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Anemia, Hemolytic, Congenital Nonspherocytic / diagnosis
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Anemia, Hemolytic, Congenital Nonspherocytic / ethnology
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Anemia, Hemolytic, Congenital Nonspherocytic / genetics*
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Chromosome Mapping
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Female
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Glucosylceramidase / genetics
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Humans
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Male
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Mutation*
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Polymorphism, Genetic*
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Pyruvate Kinase / deficiency*
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Pyruvate Kinase / genetics*
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Structure-Activity Relationship
Substances
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Pyruvate Kinase
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Glucosylceramidase