title: Novel sequence insertion in a Mâori patient with transfusion-dependent beta-thalassaemia.
abstract: Although beta-thalassaemia is common throughout the world, it has not been previously described in Polynesia. We report a novel sequence insertion where homozygosity for the defect results in transfusion-dependent anaemia. The repeated 45 base pair (bp) insertion causes duplication of the start codon and consequent transcription from the original initiation code would be predicted to lead to the production of an irrelevant seven-residue peptide, while residual translation from the novel initiation site would result in diminished yields of beta-globin and consequent clinical beta(+)-thalassaemia.
authors.affiliation: Department of Haematology, Middlemore Hospital, Private Bag, Auckland, New Zealand. Hblacklock@middlemore.co.nz
authors.forename: Hilary A
authors.initials: HA
authors.lastname: Blacklock
authors.forename: Jacqui
authors.initials: J
authors.lastname: Case
authors.forename: Tim
authors.initials: T
authors.lastname: Chan
authors.forename: Tony
authors.initials: T
authors.lastname: Raizis
authors.forename: Richard
authors.initials: R
authors.lastname: Doocey
authors.forename: Andrew
authors.initials: A
authors.lastname: Fellowes
authors.forename: Gordon
authors.initials: G
authors.lastname: Royle
authors.forename: Sharon
authors.initials: S
authors.lastname: Jackson
authors.forename: Stephen
authors.initials: S
authors.lastname: Brennan
authors.forename: Peter
authors.initials: P
authors.lastname: George
mesh_terms: D000328:Adult; D001483:Base Sequence; D001803:Blood Transfusion; D005260:Female; D005914:Globins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009520:New Zealand; D012333:RNA, Messenger / Q000235:genetics; D017086:beta-Thalassemia / Q000235:genetics* / Q000628:therapy
chemical_list: D012333:RNA, Messenger; D005914:Globins