Alpha globin gene triplication in severe heterozygous beta thalassemia.
In an Algerian family, three sibs with an unusually severe heterozygous beta-thalassemia and two sibs with a typical heterozygous beta-thalassemia were found. Both conditions were transmitted vertically. Globin chain synthesis and DNA restriction enzyme analysis showed that the unusual severity of heterozygous beta-thalassemia observed in this family is related to an overproduction of alpha-globin chains originating from an alpha-globin gene triplication.
D000293:Adolescent; D000328:Adult; D000368:Aged; D000462:Algeria / Q000208:ethnology; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000097:blood; D004262:DNA Restriction Enzymes; D005260:Female; D005796:Genes; D005914:Globins / Q000235:genetics*; D006454:Hemoglobins / Q000032:analysis; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D006454:Hemoglobins; D005914:Globins; D004247:DNA; D004262:DNA Restriction Enzymes