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Mutations in pyruvate kinase

E Beutler1, L Baronciani

  • 1Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California 92037, USA.

Human Mutation
|January 1, 1996
PubMed
Summary
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Pyruvate kinase (PK) deficiency, a genetic cause of hemolytic anemia, results from PKLR gene mutations. Existing research identifies 55 mutations, with gene variations suggesting a balanced polymorphism.

Area of Science:

  • Genetics
  • Hematology
  • Molecular Biology

Background:

  • Pyruvate kinase (PK) deficiency is a frequent cause of hereditary nonspherocytic hemolytic anemia.
  • Mutations in the PKLR gene are responsible for PK deficiency.
  • 55 distinct mutations have been identified in patients with PK-deficient hemolytic anemia.

Purpose of the Study:

  • To review the known mutations in the PKLR gene associated with PK deficiency.
  • To explore the potential for PK deficiency to be a balanced polymorphism.

Main Methods:

  • Literature review of described PKLR gene mutations.
  • Analysis of genetic polymorphisms in the PKLR and glucocerebrosidase (GBA) genes.

Main Results:

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  • A total of 55 different mutations in the PKLR gene have been documented in patients with PK-deficient hemolytic anemia.
  • Polymorphisms within the PKLR gene and the linked GBA gene were observed.

    • Conclusions:

    • PK deficiency is a significant genetic disorder leading to hemolytic anemia.
    • The identified polymorphisms suggest that PK deficiency might be a balanced polymorphism, indicating potential evolutionary advantages in certain populations.