Regulation of the beta- and delta-hemoglobin genes. A family with hereditary persistent fetal hemoglobin and beta-thalassemia.
We have studied a 41-year-old black male with the simultaneous occurrence of hereditary persistence of fetal hemoglobin (HPFH) and beta-thalassemia, and his two postadolescent sons, each heterozygous for one of the traits. The son heterozygous for beta-thalassemia had an elevated Hb A2, but the index case did not. The data from this pedigree indicate that the delta-allele trans to the beta-thalassemia gene was reponsible for the increased delta-chain production. Evidence from other cases of combination HPFH and beta-thalassemia indicates that regulation of the beta- and delta-chain production in beta-thalassemia is heterogeneous with respect to mechanism.
D000293:Adolescent; D000328:Adult; D005319:Fetal Hemoglobin / Q000032:analysis; D005796:Genes; D005838:Genotype; D006441:Hemoglobin A / Q000032:analysis; D006453:Hemoglobinopathies / Q000097:blood / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D006441:Hemoglobin A; D005319:Fetal Hemoglobin