We have studied a 41-year-old black male with the simultaneous occurrence of hereditary persistence of fetal hemoglobin (HPFH) and β-thalassemia, and his two postadolescent sons, each heterozygous for one of the traits. The son heterozygous for β-thalassemia had an elevated Hb A2, but the index case did not. The data from this pedigree indicate that the δ-allele trans to the β-thalassemia gene was responsible for the increased δ-chain production. Evidence from other cases of combination HPFH and β-thalassemia indicates that regulation of the β- and δ-chain production in β-thalassemia is heterogeneous with respect to mechanism.

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