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Hemoglobin
international journal for hemoglobin research
Volume 40, 2016 - Issue 1
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Short Communication

First Detection of the −27 (A > G) (HBB: c.-77A > G) Mutation of the β-Globin Gene in a Chinese Family

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Pages 59-60 | Received 26 Aug 2015, Accepted 06 Sep 2015, Published online: 10 Nov 2015
 

Abstract

We present the first description of a novel β-thalassemia (β-thal) mutation in a Chinese family. This mutation is located at −27 of the TATA box in the promoter of the β-globin gene (HBB: c.-77A > G) and is likely associated with a phenotype of β+-thalassemia (β+-thal).

Declaration of interest

This study was supported by grants from National Natural Science Foundation (81571448), 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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