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

We report a new alpha-thalassemia (alpha-thal) point mutation detected in a woman with alpha(+)-thal trait. Sequence analysis identified a nonsense mutation in exon 2 of the alpha2-globin gene, at amino acid codon 54 (CAG>TAG).