Hemoglobin constitution of double heterozygotes for alpha or beta-thalassemia and Hb J Sardegna.
In this study, we carried out alpha-globin gene mapping in 12 heterozygotes for Hb J Sardegna and in 5 double heterozygotes for this variant and beta-thalassemia. Then, we correlated the Hb pattern with the alpha and beta-globin genotype. In heterozygotes for Hb J Sardegna with a deletion of a single alpha-globin gene (alpha alpha/-alpha) the amount of the abnormal Hb was significantly (p much less than 0.001) higher than in heterozygotes for this variant with a full complement of 4 alpha-globin structural genes (27.5% versus 20.4%). Double heterozygotes for the abnormal hemoglobin and beta-thalassemia with a full complement of 4 alpha-globin structural genes tended to have lower amount of the abnormal Hb than heterozygotes for this variant who do not have beta-thalassemia.
D002874:Chromosome Mapping; D005260:Female; D005796:Genes; D005914:Globins / Q000235:genetics*; D006448:Hemoglobin J / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D013789:Thalassemia / Q000097:blood* / Q000235:genetics
D006455:Hemoglobins, Abnormal; C043667:Hemoglobin J Sardegna; D006448:Hemoglobin J; D005914:Globins