α⁺-Thalassemia Trait Caused by a Nonsense Mutation in the α2-Globin Gene: Codon 54 (CAG>TAG)

Abstract

We report a new α-thalassemia (α-thal) point mutation detected in a woman with α⁺-thal trait. Sequence analysis identified a nonsense mutation in exon 2 of the α2-globin gene, at amino acid codon 54 (CAG>TAG).

Keywords:

• α-Thalassemia (α-thal)
• Point mutation
• Nonsense mutation