Erythrocyte pyruvate kinase deficiency: 2015 status report

Am J Hematol. 2015 Sep;90(9):825-30. doi: 10.1002/ajh.24088. Epub 2015 Aug 14.


Over the last several decades, our understanding of the genetic variation, pathophysiology, and complications of the hemolytic anemia associated with red cell pyruvate kinase deficiency (PKD) has expanded. Nonetheless, there remain significant gaps in our knowledge with regard to clinical care and monitoring. Treatment remains supportive with phototherapy and/or exchange transfusion in the newborn period, regular or intermittent red cell transfusions in children and adults, and splenectomy to decrease transfusion requirements and/or anemia related symptoms. In this article, we review the clinical diversity of PKD, the current standard of treatment and for supportive care, the complications observed, and future treatment directions.

Publication types

  • Review

MeSH terms

  • Adult
  • Anemia, Hemolytic, Congenital Nonspherocytic / enzymology
  • Anemia, Hemolytic, Congenital Nonspherocytic / pathology
  • Anemia, Hemolytic, Congenital Nonspherocytic / surgery
  • Anemia, Hemolytic, Congenital Nonspherocytic / therapy*
  • Child
  • Disease Management
  • Erythrocyte Transfusion*
  • Exchange Transfusion, Whole Blood*
  • Humans
  • Infant, Newborn
  • Phototherapy
  • Pyruvate Kinase / deficiency*
  • Pyruvate Metabolism, Inborn Errors / enzymology
  • Pyruvate Metabolism, Inborn Errors / pathology
  • Pyruvate Metabolism, Inborn Errors / surgery
  • Pyruvate Metabolism, Inborn Errors / therapy*
  • Splenectomy


  • Pyruvate Kinase

Supplementary concepts

  • Pyruvate Kinase Deficiency of Red Cells