α+-Thalassemia Due to a Frameshift Mutation of theα2-Globin Gene [codons 55/56 (+T) orHBA2: c.168dup] Academic Article uri icon

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abstract

  • We report a case of α(+)-thalassemia (α(+)-thal) trait in a Chinese-Canadian family caused by a novel frameshift mutation of the α2-globin gene, specifically the duplication of a single nucleotide at amino acid codon 56 [HBA2: c.168dup]. The mutation results in substitution of a termination codon (TAA) for lysine (AAG) at amino acid position 56.

authors

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

publication date

  • May 4, 2015