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.
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.
Tsujino
K
K
Department of Pathology, Osaka University Medical School, Suita, Osaka, Japan.
Kanno
H
H
Hashimoto
K
K
Fujii
H
H
Jippo
T
T
Morii
E
E
Lee
Y M
YM
Asai
H
H
Miwa
S
S
Kitamura
Y
Y
D017668:Age of Onset; D000743:Anemia, Hemolytic / Q000235:genetics*; D000818:Animals; D000831:Animals, Newborn; D000833:Animals, Suckling; D004912:Erythrocytes / Q000201:enzymology*; D004920:Erythropoiesis; D005260:Female; D005838:Genotype; D007527:Isoenzymes / Q000097:blood / Q000172:deficiency / Q000235:genetics*; D008297:Male; D051379:Mice; D008808:Mice, Inbred CBA; D008817:Mice, Mutant Strains; D017354:Point Mutation; D011770:Pyruvate Kinase / Q000097:blood / Q000172:deficiency / Q000235:genetics*
D007527:Isoenzymes; D011770:Pyruvate Kinase