Codon 62 (GTG>GCG, Val→Ala) (α1) (HBA1: c.188T>C) Causing Nondeletional α-Thalassemia in a Chinese Family

Abstract

We report a novel α-globin gene point mutation detected during newborn screening for hemoglobinopathies. Sequence analyses identified a GTG>GCG substitution at codon 62 of the α1-globin gene. This mutation causes a silent α-thalassemia (α-thal).

• α-Thalassemia (α-thal)
• Point mutation
• α1-Globin gene