title: Sudanese (δβ)0-Thalassemia: Identification and Characterization of a Novel 9.6 kb Deletion.
abstract: We report a case of δβ-thalassemia (δβ-thal) trait in an adult male originally from Sudan. Multiplex ligation-dependent probe amplification (MLPA) was used to localize the approximate boundaries of the deletion, followed by polymerase chain reaction (PCR) amplification and sequence analysis of the junction fragment to determine the precise deletion endpoints. The deletion spans 9594 bp, with the 5' deletion endpoint located 1560 bp upstream of the δ-globin gene and the 3' endpoint within the second intervening sequence (IVS-II) of the β-globin gene.
authors.affiliation: a Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences , Hamilton , Ontario , Canada.
authors.forename: John S
authors.initials: JS
authors.lastname: Waye
authors.forename: Barry
authors.initials: B
authors.lastname: Eng
authors.forename: Tiffany
authors.initials: T
authors.lastname: Got
authors.forename: Meredith
authors.initials: M
authors.lastname: Hanna
authors.forename: Betty-Ann
authors.initials: BA
authors.lastname: Hohenadel
authors.forename: Lisa M
authors.initials: LM
authors.lastname: Nakamura
authors.forename: Lynda
authors.initials: L
authors.lastname: Walker
mesh_terms: D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005838:Genotype; D006801:Humans; D007438:Introns; D008297:Male; D009154:Mutation; D010641:Phenotype; D017384:Sequence Deletion; D013397:Sudan; D055544:beta-Globins / Q000737:chemistry / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics*; D055546:delta-Globins / Q000737:chemistry / Q000235:genetics*; D055538:delta-Thalassemia / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D055544:beta-Globins; D055546:delta-Globins
keywords: (δβ)0-thalassemia [(δβ)0-thal]; Hb F silencer region; Sudanese; deletion