Three New β-Globin Gene Promoter Mutations Identified Through Newborn Screening Academic Article uri icon

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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.

authors

  • Eng, Barry
  • Walker, Lynda
  • Nakamura, Lisa M
  • Hoppe, Carolyn
  • Azimi, Mahin
  • Lee, Helen
  • Waye, John

publication date

  • January 2007

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