title: Hb Lynwood [α107(G14) (-T) (α2) HBA2:c.323delT)] in conjunction with the α(3.7) deletion produces a moderately severe α-thalassemia phenotype.
abstract: We describe a novel frameshift mutation associated with an α-thalassemia (α-thal) phenotype in a patient of Sudanese origin investigated for persistent microcytosis. In addition to the α(3.7) deletion, a novel mutation on the α2 gene was detected: HBA2:c.323delT. This mutation causes a frameshift at codon 107 of the α2 gene. The result is a disturbed amino acid sequence for the following 24 amino acids, and a premature termination codon at position 132.
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: Claire
authors.initials: C
authors.lastname: Macaulay
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; D003062:Codon; D006443:Hemoglobin A2 / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010641:Phenotype; D017384:Sequence Deletion / Q000235:genetics*; D013397:Sudan; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D003062:Codon; D055542:alpha-Globins; D006443:Hemoglobin A2