A Novel Mutation of the α2-Globin Gene Causing α⁺-Thalassemia: Hb Nanning (HBA2: c.369_370delinsGA)

Abstract

We report a novel mutation on the α2-globin gene, Hb Nanning (HBA2:c.369_370delinsGA) detected in a Chinese family. This mutation gives rise to a previously undescribed hemoglobin (Hb) variant that was undetectable by various separation techniques. Both carriers of the mutation have mean corpuscular volume (MCV) and mean corpuscular Hb (MCH) values that are below normal, as would be predicted for an α⁺-thalassemia (α⁺-thal) patient.

Keywords:

• α-Globin
• α-thalassemia (α-thal)
• Hb Nanning
• nondeletional mutation

Acknowledgements

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

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 Natural Science Foundation of China [81660034], Natural Science Foundation of Guangxi [2016GXNSFAA380078], the Health Department of Guangxi Province [Z2014146, Z2010063, S201613] and Guangxi Science and Technology Project [Gui 14124004-1-5, Gui 1598012-21].