β0-Thalassemia Caused by a Novel Nonsense Mutation [HBB:c.199A > T]

Abstract

We report two hemoglobinopathy cases involving a novel β-thalassemia (β-thal) nonsense mutation, HBB:c.199A > T. One patient had Hb S/β-thal, and a second unrelated patient had Hb D-Punjab/β-thal. The HBB:c.199A > T mutation introduces a premature termination codon at amino acid codon 66 (AAA→TAA) in exon 2, resulting in typical high Hb A2 β0-thal.