Normal Hb A2β-Thalassemia Trait: Frameshift Mutation (HBB: c.187_251dup) inCiswith the Hb A2’δ-Globin Gene Missense Mutation (HBD: c.49G>C) Academic Article uri icon

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abstract

  • We report the case of a father and daughter who are heterozygous for a duplication of 65 bp within exon 2 of the β-globin gene, resulting in an altered and truncated β-globin chain that is predicted to be non functional. The β-globin gene mutation is in cis with the common Hb A2 ' missense mutation of the δ-globin gene (HBD: c.49G>C), resulting in β-thalassemia (β-thal) trait with normal levels of Hb A2. This is the second report of this β(0)-thal mutation, and both families were associated with the Hb A2 ' variant and normal levels of Hb A2. Laboratories should be aware of the rare occurrence of β-thal trait with normal levels of Hb A2.

authors

  • Waye, John
  • Eng, Barry
  • Hellens, Laurie
  • Hohenadel, Betty-Ann
  • Nakamura, Lisa M
  • Walker, Lynda

publication date

  • April 2013