A Novel α2-Globin Gene Mutation: Hb Debao [α31(B12)Arg→Trp; HBA2: c.94A>T]

Abstract

We report a novel mutation on the α2-globin gene, Hb Debao [α31(B12)Arg→Trp; HBA2: c.94A>T] detected in a Chinese family. This mutation gives rise to a previously undescribed hemoglobin (Hb) variant that was undetectable by electrophoretic or chromatographic methods. Hb Debao was associated with an α⁺-thalassemia (α⁺-thal) deletion [−α^3.7 (rightward)] producing a mild phenotype with significant microcytosis and hypochromia, while the combination of this mutation with an α⁰-thal deletion (−−^SEA) resulting in a severe form of Hb H (β4) disease, which is consistent with a thalassemic phenotype associated with the novel mutation.

Keywords:

• α2-globin gene
• α-thalassemia
• Hb Debao
• nondeletional mutation

Acknowledgments

We are grateful to our current laboratory members 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 [81260093, 81660034], Natural Science Foundation of Guangxi [2013GXNSFAA019247, 2016GXNSFAA380078], the Health Department of Guangxi Province [Z2014146, Z2011060, S201613] and Guangxi Science and Technology Project [Gui 14124004–1-5, Gui 1598012–21].