First Description of a β-Thalassemia Mutation, −86 (C > G) (HBB: c.−136C > G), in a Chinese Family

Abstract

We present the first description of a Chinese family with a β-thalassemia (β-thal) mutation −86 (C > G) (HBB: c.−136C > G). This mutation changes the conserved promoter sequence within the proximal CACCC box of the β-globin gene that leads to a phenotype of β+-thal. The β-globin haplotype analysis revealed that the −86 mutation in our case was linked with haplotype I [+ − − − − + +]. This haplotype was commonly found both in the β-thal mutation and the βA gene. Our results suggest that the −86 mutation possibly does not have a distinct origin.