First Detection of the −27 (A > G) (HBB: c.-77A > G) Mutation of the β-Globin Gene in a Chinese Family

Abstract

We present the first description of a novel β-thalassemia (β-thal) mutation in a Chinese family. This mutation is located at −27 of the TATA box in the promoter of the β-globin gene (HBB: c.-77A > G) and is likely associated with a phenotype of β⁺-thalassemia (β⁺-thal).

• β-Globin gene
• β-thalassemia (β-thal)
• promoter mutation
• TATA box

Declaration of interest

This study was supported by grants from National Natural Science Foundation (81571448), People’s Republic of China. The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.