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Hemoglobin
international journal for hemoglobin research
Volume 40, 2016 - Issue 3
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Original Article

Identification of the −α2.4 Deletion in One Family and in One Hb H Disease Patient in Guangxi, People’s Republic of China

, , , , , , , , , , , & show all
Pages 194-197 | Received 20 Nov 2015, Accepted 02 Feb 2016, Published online: 17 Mar 2016
 

Abstract

The 2.4 kb (or −α2.4) deletion in the α-globin gene cluster (NG_000006.1) is an α+-thalassemia (α+-thal) allele. The molecular basis of −α2.4 is a deletion from 36860 to 39251 of the α-globin gene cluster. It was reported by three research groups in 2005, 2012 and 2014, respectively. In routine thalassemia screening studies by this research group, we found an individual with the −α2.4/αα genotype and an Hb H (β4) disease patient whose genotype was – –SEA/−α2.4. Samples from the parents of the carrier of the −α2.4/αα genotype were collected to perform pedigree analysis, and the proband’s mother’s genotype was diagnosed to be – –SEA/−α2.4. The research revealed that the −α2.4 allele exists in the population of southern Guangxi, People’s Republic of China.

Declaration of interest

This study was funded by the Scientific Research and Technological Development of Qinzhou City (20141600901), Guangxi, People’s Republic of China. The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

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