Mild β⁺-Thalassemia Associated With Two Linked Sequence Variants: IVS-II-839 (T>C) and IVS-II-844 (C>A)

Abstract

We report four unrelated families with a mild β⁺-thalassemia (β⁺-thal) allele consisting of two sequence variants at the 3' end of IVS-II: IVS-II-839 (T>C) (HBB: c.316-12T>C) and IVS-II-844 (C>A) (HBB: c.316-7C>A). These sequence variants alter the conserved polypyrimidine tract of the consensus splice acceptor sequence (Y₁₁NYAG/G), which could reduce splicing efficiency. This may represent a common, yet under-diagnosed β⁺-thal allele in African populations.

• β⁺-Thalassemia (β⁺-thal)
• IVS-II Sequence variants
• Splice acceptor