Delayed onset of hemolytic anemia in CBA-Pk-1slc/Pk-1slc mice with a point mutation of the gene encoding red blood cell type pyruvate kinase

Blood. 1998 Mar 15;91(6):2169-74.

Abstract

The Pk-1slc gene encodes a mutant red blood cell (RBC) type pyruvate kinase (PK), and adult CBA-Pk-1slc/Pk-1slc mice show a severe nonspherocytic hemolytic anemia. However, the number of RBCs and the proportion of reticulocytes were comparable between neonatal CBA-Pk-1slc/Pk-1slc mice and control -+/+ mice. Since the age-dependent increase of RBCs was much greater in CBA-+/+ mice than in CBA-Pk-1slc/Pk-1slc mice, significant anemia was observed in the latter mice on day 14 after birth. The increase of RBCs in CBA-+/+ mice was due to the prolongation of their survival time. The half life of RBCs increased in CBA-+/+ mice with ages, but it decreased in CBA-Pk-1slc/Pk-1slc mice. The relatively longer half life of RBCs in neonatal CBA-Pk-1slc/Pk-1slc mice appeared to be due to the delayed switching from M2-type PK that are expressed by undifferentiated erythroid precursor cells to RBC-type PK that are expressed by mature RBCs.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Anemia, Hemolytic / genetics*
  • Animals
  • Animals, Newborn
  • Animals, Suckling
  • Erythrocytes / enzymology*
  • Erythropoiesis
  • Female
  • Genotype
  • Isoenzymes / blood
  • Isoenzymes / deficiency
  • Isoenzymes / genetics*
  • Male
  • Mice
  • Mice, Inbred CBA
  • Mice, Mutant Strains
  • Point Mutation*
  • Pyruvate Kinase / blood
  • Pyruvate Kinase / deficiency
  • Pyruvate Kinase / genetics*

Substances

  • Isoenzymes
  • Pyruvate Kinase