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.