Splice Acceptor Mutation [HBB:c.93-2A > T] in a Patient with Hb S/β⁰-Thalassemia

Abstract

We report a case of Hb S/β⁰-thalassemia (Hb S/β⁰-thal) in a patient who is a compound heterozygote for the Hb Sickle mutation (HBB:c.20A > T) and a mutation of the canonical splice acceptor sequence of IVS1 (AG > TG, HBB:c.93-2A > T). This is the fifth mutation involving the AG splice acceptor site of IVS1, all of which prevent normal splicing and cause β⁰-thal.

Keywords:

• β-globin gene
• β-thalassemia
• splice acceptor mutation

Disclosure statement

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

Additional information

Funding

The author(s) reported there is no funding associated with the work featured in this article.