Mild β+-Thalassemia Associated With Two Linked Sequence Variants: IVS-II-839 (T>C) and IVS-II-844 (C>A). (August 2013)

• Record Type: Journal Article
• Authors: Waye, John S.; Eng, Barry; Hellens, Laurie; Hohenadel, Betty-Ann; Nakamura, Lisa M.; Walker, Lynda
• Is Part Of: Hemoglobin. Volume 37:Number 4(2013)
• Page Start: 378
• Page End: 386
• Publication Date: 2013-08
• Subjects: Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.3109/03630269.2013.788511
• Languages: English
• ISSNs: 0363-0269

Abstract

<abstract> <title> <x xml:space="preserve">Abstract</x> </title> <p>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&gt;C) (<italic>HBB</italic>: c.316-12T&gt;C) and IVS-II-844 (C&gt;A) (<italic>HBB</italic>: c.316-7C&gt;A). These sequence variants alter the conserved polypyrimidine tract of the consensus splice acceptor sequence (Y₁₁NY<italic>AG</italic>/G), which could reduce splicing efficiency. This may represent a common, yet under-diagnosed β⁺-thal allele in African populations.</p> </abstract>