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Hemoglobin
international journal for hemoglobin research
Volume 40, 2016 - Issue 3
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Short Communication

A New δ-Globin Gene Variant: Hb A2-Fengshun [δ121(GH4)Glu→Lys (HBD: c.364G > A)]

, , , &
Pages 213-214 | Received 06 Feb 2016, Accepted 15 Feb 2016, Published online: 27 Apr 2016
 

Abstract

An elevated Hb A2 (α2δ2 level) is a diagnostic marker for heterozygous β-thalassemia (β-thal). Mutations in the δ-globin gene can cause decreased expression of Hb A2, compromising screening for heterozygous β-thal. In this report, we describe a novel missense mutation of the δ-globin [Hb A2-Fengshun or δ121(GH4)Glu→Lys, HBD: c.364G > A] in a Chinese individual who had coinherited a heterozygous β-thal with a normal Hb A2 level.

Declaration of interest

This study was supported by a grant from Guangzhou Health Bureau (20141A010021), Guangdong, 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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