title: α(+)-Thalassemia Due to a Frameshift Mutation of the α2-Globin Gene [codons 55/56 (+T) or HBA2: c.168dup].
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.affiliation: Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences , Hamilton, Ontario , Canada .
authors.forename: John S
authors.initials: JS
authors.lastname: Waye
authors.forename: Barry
authors.initials: B
authors.lastname: Eng
authors.forename: Meredith
authors.initials: M
authors.lastname: Hanna
authors.forename: Betty-Ann
authors.initials: BA
authors.lastname: Hohenadel
authors.forename: Lisa M
authors.initials: LM
authors.lastname: Nakamura
authors.forename: Lynda
authors.initials: L
authors.lastname: Walker
mesh_terms: D000328:Adult; D003062:Codon; D004252:DNA Mutational Analysis; D004909:Erythrocyte Indices; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D003062:Codon; D055542:alpha-Globins
keywords: frameshift; point mutation; α-Thalassemia (α-thal)