title: Molecular characterisation of Vietnamese HPFH.
abstract: A novel 30 kb deletion of the beta-globin gene cluster associated with the phenotype of hereditary persistence of fetal hemoglobin (HPFH) is described in two unrelated individuals of Vietnamese background. The Vietnamese G gamma A gamma HPFH deletion has a unique 5' breakpoint 3.5 kb downstream of the delta-globin gene. The 3' breakpoint lies approximately 8 kb upstream from the HPFH-3 breakpoint (Henthorn et al., 1986) and in the region of the 3' breakpoints of HPFH-4 (Saglio et al., 1986), German and Belgian G gamma+ (A gamma delta beta)zero-thalassemias (Anagnou et al., 1988; Losekoot et al., 1991). Characterisation of the 3' breakpoint in the present study has enabled more precise localisation of other deletion breakpoints at this locus. Further evidence is provided that the 3' breakpoint region contains functionally important sequences and that the juxtaposition of these sequences to the gamma-globin genes is a significant factor in the increased fetal hemoglobin levels.
authors.affiliation: Department of Molecular Genetics, Royal Prince Alfred Hospital, Camperdown, NSW, Australia.
authors.forename: P I
authors.initials: PI
authors.lastname: Motum
authors.forename: T J
authors.initials: TJ
authors.lastname: Hamilton
authors.forename: R
authors.initials: R
authors.lastname: Lindeman
authors.forename: H
authors.initials: H
authors.lastname: Le
authors.forename: R J
authors.initials: RJ
authors.lastname: Trent
mesh_terms: D000328:Adult; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005319:Fetal Hemoglobin / Q000235:genetics*; D005914:Globins / Q000235:genetics; D006453:Hemoglobinopathies / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D010641:Phenotype; D015183:Restriction Mapping; D017384:Sequence Deletion; D014744:Vietnam
chemical_list: D005914:Globins; D004247:DNA; D005319:Fetal Hemoglobin