Three New β-Globin Gene Promoter Mutations Identified Through Newborn Screening

Abstract

We report three new β-globin gene promoter mutations identified in newborns with hemoglobin (Hb) profiles consistent with Hb S/β⁺-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:

• β-Thalassemia (thal)
• promoter mutations
• Hb S/β⁺-thalassemia