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Hemoglobin
international journal for hemoglobin research
Volume 42, 2018 - Issue 4
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Short Communication

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

, , , , , , , & show all
Pages 272-275 | Received 24 Jun 2018, Accepted 15 Sep 2018, Published online: 07 Jan 2019
 

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.

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].

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