title: α(+)-Thalassemia trait caused by a frameshift mutation in exon 2 of the α2-globin gene [HBA2 c.244delT].
abstract: We report a case of α(+)-thalassemia (α(+)-thal) trait caused by a novel frameshift mutation in exon 2 of the α2-globin gene, specifically a deletion of a single nucleotide at amino acid codon 81 [HBA2 c.244delT]. The mutation results in a premature termination of translation at codon 83.
authors.affiliation: Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada. waye@hhsc.ca
authors.forename: John S
authors.initials: JS
authors.lastname: Waye
authors.forename: Lynda
authors.initials: L
authors.lastname: Walker
authors.forename: Barry
authors.initials: B
authors.lastname: Eng
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002170:Canada; D003062:Codon; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D005838:Genotype; D006801:Humans; D008969:Molecular Sequence Data; D010641:Phenotype; D016133:Polymerase Chain Reaction; D040641:Quantitative Trait Loci / Q000235:genetics*; D055815:Young Adult; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D003062:Codon; D055542:alpha-Globins