First Detection of a Splice Site β-Thalassemia Mutation, IVS-I-6 (T > C) (HBB: c.92 + 6T > C) in a Chinese Family

Abstract

We present the first description of Chinese individuals with the β-thalassemia (β-thal) mutation IVS-I-6 (T > C) (HBB: c.92 + 6T > C). This mutation interferes with mRNA splicing and results in reducing expression of β-globin chains that leads to a β⁺-thal phenotype. The β-globin haplotype anlaysis revealed the IVS-I-6 mutation in our case was linked with haplotype VI [− + + − − − +] and had Mediterranean characteristics.

• β-Thalassemia (β-thal)
• phenotype
• splice site mutation

Acknowledgments

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

Declaration of interest

The study was supported by grants from the Health Department of Guangxi Province (Zhong 2012020), 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.