Hematology of a murine beta-thalassemia: a longitudinal study.
Mice homozygous for a spontaneous mutation, in which the beta-major globin gene is deleted, have clinical symptoms of beta-thalassemia. These mice have a hypocellular, hypochromic, microcytic anemia that becomes more severe with increasing age. The defective red cell morphology, decreased osmotic fragility of erythrocytes and shortened red cell life span found in beta-thalassemic mice are similar to those observed in human beta-thalassemia. Synthesis of beta-globin is depressed but not as much as might be expected because the expression of the beta-minor globin gene is enhanced to encode two to three times more globin than in normal mice. Splenomegaly, an enlarged pool of stem cells for erythropoiesis, and iron overloading occur in older mice. The fact that these mice remain moderately healthy makes them a very suitable animal model in which to develop and test alternative techniques of gene therapy that could be successfully applied to the treatment of human thalassemia. Homozygous beta-thalassemic mice have large deposits of iron in their tissues, which might make these mice also useful for in vivo tests of the effectiveness and possible long-term side effects of newly developed iron chelators.
D000818:Animals; D001853:Bone Marrow / Q000378:metabolism; D004195:Disease Models, Animal; D004905:Erythrocyte Aging; D004912:Erythrocytes / Q000473:pathology; D005914:Globins / Q000096:biosynthesis; D006801:Humans; D066298:In Vitro Techniques; D008137:Longitudinal Studies; D051379:Mice; D008817:Mice, Mutant Strains; D009996:Osmotic Fragility; D012156:Reticulocytes / Q000378:metabolism; D013789:Thalassemia / Q000097:blood* / Q000473:pathology / Q000503:physiopathology
D005914:Globins