title: Three mouse models of human thalassemia.
abstract: Three types of mice with globin gene mutations, called 352HB, 27HB, and Hbath-J, appear to be true animal models of human thalassemia. Expression of the alpha-globin genes in three stocks of mice, each one heterozygous for one of the alpha-globin mutations, was examined at the polypeptide, RNA, and DNA levels. alpha-Globin polypeptide chains, relative to beta-globin chains in heterozygous thalassemic mice, are present at approximately 80% of normal. The ratios of alpha-globin to beta-globin RNA sequences are also 75-80% of normal, exactly reflecting the alpha-globin to beta-globin chain ratios. In the case of mutant 352HB, at least one alpha-globin gene is deleted. Thalassemic mouse erythroid cells appear to compensate partially for the loss of half of their alpha-globin genes.
mesh_terms: D000818:Animals; D002872:Chromosome Deletion; D004195:Disease Models, Animal; D005796:Genes; D005914:Globins / Q000096:biosynthesis; D006801:Humans; D051379:Mice; D008817:Mice, Mutant Strains / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D012156:Reticulocytes / Q000502:physiology; D013789:Thalassemia / Q000235:genetics* / Q000378:metabolism
chemical_list: D012333:RNA, Messenger; D005914:Globins