Non-Thalassemic Phenotype Associated With the -83 (G > A) Mutation of the β-Globin Gene Promoter (HBB: c.-133G > A)

The -83 (G > A) mutation of the β-globin gene promoter (HBB: c.-133G > A) was first reported in an adult male patient with mild thalassemic indices, suggesting that this may be a mild β(+)-thalassemia (β(+)-thal) allele. In this report, we present data from several patients who are simple heterozygotes for the -83 mutation, or compound heterozygotes for -83 and Hb S (HBB: c.20A > T) or β-thal. These cases illustrate that the -83 sequence …