α(+)-Thalassemia Due to a Frameshift Mutation of the α2-Globin Gene [codons 55/56 (+T) or HBA2: c.168dup].

Hemoglobin 2015 21;39(3):209-10. Epub 2015 Apr 21.

Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences , Hamilton, Ontario , Canada .

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.

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http://dx.doi.org/10.3109/03630269.2015.1030410DOI Listing
March 2016

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