Novel Mutation of the Translation Initiation Codon of the α1-Globin Gene (ATG>AAG or HBA1:c.2T>A) Academic Article uri icon

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abstract

  • We report two Italian-Canadian families with α+-thalassemia (α+-thal) trait caused by a novel mutation of the translation initiation codon of the α1-globin gene (ATG>AAG or HBA1:c.2T>A). This is the tenth reported α-thal mutation involving the translation initiation codon or the conserved Kozak consensus sequences of the HBA2 or HBA1 genes.

authors

  • Waye, John
  • Eng, Barry
  • Hanna, Meredith
  • Hohenadel, Betty-Ann
  • Nakamura, Lisa
  • Walker, Lynda

publication date

  • September 2, 2016