A Novel Mutation in the Promoter Region of the β-Globin Gene: HBB: c.-127G > C.

Abstract excerpt

Novel β-globin gene mutations are still occasionally being reported, especially when evaluating milder phenotypes. We report here a novel putative mutation in the promoter region of the β-globin gene and assess its clinical implications. A family, parents and four siblings, with hematological and clinical features suspected of being β-globin gene mutation(s), were involved in this study. In addition to...

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