First Identification of the 3.5 kb Deletion (NC_000011.10: g.5224302-5227791del3490bp) on the β-Globin Gene Cluster in a Chinese Family

Abstract

β-Thalassemia (β-thal) is one of the most common autosomal recessive disorders worldwide. It is caused mainly by point mutations or, more rarely, deletions on the β-globin gene, leading to reduced (β⁺) or absent (β⁰) synthesis of the β chains of hemoglobin (Hb). Molecular characterization of β-thal is essential for the prevention of this disease in the population. In China, more than 46 different mutations have been found, while approximately five large deletional types of β-thal have been reported. Here we described a large deletional mutation of the β-globin gene cluster previously unreported in the Chinese population, the 3.5 kb deletion (NC_000011.10: g.5224302-5227791del3490bp) removing the β-globin gene promoter and the whole β-globin gene leading to a β⁰-thal phenotype.

Keywords:

• β-Globin gene
• β-thalassemia (β-thal)
• deletion
• multiplex ligation-dependent probe amplification (MLPA)

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 (81660034), Natural Science Foundation of Guangxi [2016GXNSFAA380078, 2013GXNSFAA019247], the Health Department of Guangxi Province [S201613, Z2014146, Z2011060] and Guangxi science and technology project [Gui 14124004–1-5, Gui 1598012–21, Gui AD17129016].