Mutations in pyruvate kinase

Ernest Beutler, Luciano Baronciani

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)1-6
Number of pages6
JournalHuman Mutation
Issue number1
Publication statusPublished - 1996


  • Anemia
  • Glucocerebrosidase
  • NSHA
  • Pyruvate kinase

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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