First Report of the Rare IVS-II-705 (T>G) β-Thalassemia Mutation in a Chinese Family

Abstract

We have found an example of the mutation at the intronic region of the second intervening sequence of the β-globin gene, IVS-II-705 (T>G) (HBB: c.316-146T>G), in a Chinese family. The two subjects heterozygous for this mutation presented with typical β-thalassemia (β-thal) trait.

Keywords:

• β-thalassemia (β-thal)
• IVS-II-705
• mutation
• splicing site

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Additional information

Funding

This study was supported by Guangdong Provincial Department of Science and Technology Agency [2016A020215218].