Globin chain synthesis analysis in obligate beta 0-thalassemia heterozygotes with isolated increase of hemoglobin A2 levels.
Globin chain synthesis analysis was carried out in 14 obligate beta 0-thalassemia heterozygotes, i.e., parents of children with thalassemia major or intermedia due to homozygous beta 0-thalassemia, with almost normal red blood cell indices and isolated increase of Hb A2 levels. alpha/beta globin chain synthesis ratios were almost balanced or slightly reduced (0.62-1.30). This finding suggests that these heterozygotes carry both alpha- and beta-thalassemia genes. However, alpha-globin structural gene mapping by restriction enzyme analysis must be carried out to confirm this explanation.
D005260:Female; D005914:Globins / Q000096:biosynthesis*; D006441:Hemoglobin A / Q000032:analysis*; D006443:Hemoglobin A2 / Q000032:analysis*; D006579:Heterozygote; D006801:Humans; D008297:Male; D013789:Thalassemia / Q000097:blood* / Q000235:genetics
D005914:Globins; D006441:Hemoglobin A; D006443:Hemoglobin A2