Rescued mice with Hb E transgene-developed red cell changes similar to human beta-thalassemia/HbE disease

Ann N Y Acad Sci. 2005:1054:407-16. doi: 10.1196/annals.1345.049.

Abstract

A novel C57BL/6 transgenic murine model of HbE has been developed, and the heterotetrameric ((m)alpha2(h)beta(E)2) hemoglobin shows significant complementation of mild thalassemia phenotype in double heterozygous (beta(m+)beta(m-), beta(hE)) and homozygous knockout (beta(m-)beta(m-), beta(hE)) mice with 100% heterotetrameric hemoglobin. Lethal homozygous beta-thalassemic mice rescued by HbE transgenes mimic beta-thalassemia/HbE phenotype in human. Although anemia was not pronounced, other hematologic parameters were abnormally similar to beta-knockout mice. Flow cytometric study revealed a highly oxidative status in the red cells, but there were no marked changes in PS red cells and RBC vesicles. RBC life span and half-time of rescued red cells were shortened, indicating a rapid RBC destruction.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Disease Models, Animal
  • Erythrocyte Aging
  • Erythrocyte Membrane / chemistry
  • Erythrocytes / pathology*
  • Flow Cytometry
  • Genetic Complementation Test
  • Genotype
  • Globins / deficiency
  • Globins / genetics
  • Hemoglobin E / genetics*
  • Hemoglobins / chemistry*
  • Hemoglobins / genetics
  • Humans
  • Membrane Lipids / blood
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Mice, Transgenic
  • Oxidation-Reduction
  • Oxidative Stress
  • Phenotype
  • Phosphatidylserines / blood
  • Protein Multimerization
  • Protein Subunits
  • Transgenes
  • beta-Thalassemia / blood*
  • beta-Thalassemia / genetics

Substances

  • Hemoglobins
  • Membrane Lipids
  • Phosphatidylserines
  • Protein Subunits
  • Globins
  • Hemoglobin E