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

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.

• β-Thalassemia (β -thal)
• δ chain hemoglobin (Hb) variant
• Hb A₂-Fengshun

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.