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

An elevated Hb A2 (α2δ2 level) is a diagnostic marker for heterozygous ß-thalassemia (ß-thal). Mutations in the δ-globin gene can cause decreased expression of Hb A2, compromising screening for heterozygous ß-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 ß-thal with a normal Hb A2 level.