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.

Keywords:

• β-globin gene
• β-thalassemia
• nonsense mutation

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The authors report no conflict of interest. The authors alone are responsible for the content and writing of this article.

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Funding

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