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

Author: Waye John S.   Eng Barry   Hellens Laurie   Hohenadel Betty-Ann   Nakamura Lisa M.   Walker Lynda  

Publisher: Informa Healthcare

ISSN: 0363-0269

Source: Hemoglobin, Vol.37, Iss.4, 2013-08, pp. : 378-386

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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.