A Novel α-Thalassemia Nonsense Mutation on the α2-Globin Gene: HBA2: c.184A>T

Abstract

We report a novel mutation on the α2-globin gene, HBA2: c.184A>T, detected in a Chinese proband. This mutation resulted in a Lys→Term substitution at position 62 of the α2-globin gene, causing a premature termination of translation. This mutation did not cause severe hematological abnormalities in the carriers. From the properties of substituted residues on the α2-globin gene, it is generally expected that this mutation causes unstable and truncated protein, thus this mutation should be detected in couples at-risk for α-thalassemia (α-thal).

Keywords:

• α-Globin gene
• α-thalassemia (α-thal)
• nonsense mutation

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 the Dongguan Bureau of Science and Technology for the City Key Program of Science and Technology [Project No. 2013108101018] and the Science and Technology Planning Project of Guangdong Province [Project No. 2014A020213001].