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  • Title: Mild β(+)-thalassemia associated with two linked sequence variants: IVS-II-839 (T>C) and IVS-II-844 (C>A).
    Author: Waye JS, Eng B, Hellens L, Hohenadel BA, Nakamura LM, Walker L.
    Journal: Hemoglobin; 2013; 37(4):378-86. PubMed ID: 23651435.
    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.
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