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 β^A gene. Our results suggest that the −86 mutation possibly does not have a distinct origin.

• β-Thalassemia (β-thal)
• CACCC box
• phenotype

Acknowledgements

We are grateful to our current laboratory members for their helpful comments on the manuscript.

Declaration of interest

This study was supported by grants from the Health Department of Guangxi Province (Zhong 2012020, Z2014146), Guangxi science and Technology Department (Gui 14124004-1-5) and Natural Science Foundation of China (81260093). The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.