First Detection of a Splice Acceptor Site β-Thalassemia Mutation: IVS-I-130 (HBB: c.93-1G > C) in a Chinese Patient

Abstract

We present the first description of a Chinese patient with a rare β-thalassemia (β-thal) mutation IVS-I-130 (HBB: c.93-1G > C). This mutation is a splice donor site mutation, and is associated with a β⁰-thal phenotype.

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

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), Guangxi Science and Technology Department (Gui 14124004-1-5) (Guangzhi Province) and the National 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.