Three New β-Globin Gene Promoter Mutations Identified Through Newborn Screening
- 1 January 2007
- journal article
- case report
- Published by Taylor & Francis Ltd in Hemoglobin
- Vol. 31 (2), 129-134
- https://doi.org/10.1080/03630260701284624
Abstract
We report three new beta-globin gene promoter mutations identified in newborns with hemoglobin (Hb) profiles consistent with Hb S/beta(+)-thalassemia (thal) (Hbs FSA). All three mutations are in close proximity to the conserved ATAA sequence located at positions -31 to -28 relative to the mRNA Cap site. Two cases involved single base substitutions at positions -25 (G-->C) and -32 (C-->T). The remaining case involved the deletion of two bases (-AA) at positions -27 and -26.Keywords
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