title: The spectrum of beta-thalassaemia in Burma.
abstract: The molecular defects causing beta-thalassaemia (beta-thal) have been analyzed in 63 unrelated Burmese patients. The patients include 49 with Hb E/beta-thal, 13 with beta-thal major and 1 with Hb S/beta-thal. Using synthetic oligonucleotide probes and aided by the polymerase chain reaction 64/76 (84%) of the alleles have been characterized. To date 6 mutations have been identified. The most common mutation is the splicing defect at IVS-1 nt 1 which accounts for 32% of the alleles. Complete characterization of these alleles should aid the initiation of a prenatal diagnosis programme for beta-thalassaemia in the Burmese population.
authors.affiliation: Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital, UK.
authors.forename: J M
authors.initials: JM
authors.lastname: Brown
authors.forename: S L
authors.initials: SL
authors.lastname: Thein
authors.forename: K M
authors.initials: KM
authors.lastname: Mar
authors.forename: D J
authors.initials: DJ
authors.lastname: Weatherall
mesh_terms: D000483:Alleles; D001483:Base Sequence; D015342:DNA Probes; D005819:Genetic Markers / Q000032:analysis; D006239:Haplotypes; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D002052:Myanmar; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D013789:Thalassemia / Q000235:genetics*
chemical_list: D015342:DNA Probes; D005819:Genetic Markers