title: α-thalassemia trait caused by frameshift mutations in exon 2 of the α2-globin gene: HBA2:c.131delT and HBA2:c.143delA.
abstract: We describe two frameshift mutations associated with an α-thalassemia (α-thal) phenotype, identified in three unrelated individuals investigated for persistent microcytosis. The first mutation, HBA2:c.131delT, is located in codon 43, and the second, HBA2:c.143delA, is located in codon 47. Both are due to single base pair deletions that cause a frameshift and a premature termination codon (PTC) at positions 48/49. The presence of a PTC at this position has been documented to result in nonsense mediated mRNA decay that would account for the thalassemic phenotype.
authors.affiliation: Department of Haematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Perth, WA, Australia. Jill.Finlayson@health.wa.gov.au
authors.forename: Jill
authors.initials: J
authors.lastname: Finlayson
authors.forename: Reza
authors.initials: R
authors.lastname: Ghassemifar
authors.forename: Paula
authors.initials: P
authors.lastname: Holmes
authors.forename: Dianne
authors.initials: D
authors.lastname: Grey
authors.forename: Christopher
authors.initials: C
authors.lastname: Newbound
authors.forename: Nicole
authors.initials: N
authors.lastname: Pell
authors.forename: Michelle
authors.initials: M
authors.lastname: Jennens
authors.forename: Laura
authors.initials: L
authors.lastname: Greenwood
authors.forename: John
authors.initials: J
authors.lastname: Beilby
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D004909:Erythrocyte Indices; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D006443:Hemoglobin A2 / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D055815:Young Adult; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D055542:alpha-Globins; D006443:Hemoglobin A2