Frameshift Mutation in the α2-Globin Gene Causing α⁺-Thalassemia: Codon 49 (−GC)

Abstract

We report a new alpha-thalassemia (alpha-thal) point mutation detected in a woman with alpha(+)-thal. Sequence analyses identified a frameshift mutation at codon 49 (-GC) in exon 2 of the alpha2-globin gene.