title: High hemoglobin A2 beta 0-thalassemia due to a 532-basepair deletion of the 5' beta-globin gene region.
abstract: We identify and characterize a novel beta 0-thalassemia mutation that is associated with an unusually high level of hemoglobin (Hb) A2 in the heterozygote. This newly discovered mutation is caused by a 532-basepair deletion that extends from positions -454 to + 78 relative to the mRNA cap site of the beta-globin gene. The propositi are 9-month-old fraternal twins. One of the twins is a compound heterozygote for the deletion and Hb S, the other is a compound heterozygote for the deletion and Hb C.
authors.affiliation: Provincial Hemoglobinopathy DNA Diagnostic Laboratory, McMaster University Medical Centre, Hamilton, Ontario, Canada.
authors.forename: J S
authors.initials: JS
authors.lastname: Waye
authors.forename: S P
authors.initials: SP
authors.lastname: Cai
authors.forename: B
authors.initials: B
authors.lastname: Eng
authors.forename: C
authors.initials: C
authors.lastname: Clark
authors.forename: J G
authors.initials: JG
authors.lastname: Adams
authors.forename: D H
authors.initials: DH
authors.lastname: Chui
authors.forename: M H
authors.initials: MH
authors.lastname: Steinberg
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D002872:Chromosome Deletion; D005914:Globins / Q000235:genetics*; D006443:Hemoglobin A2 / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D009841:Oligonucleotides / Q000737:chemistry; D016133:Polymerase Chain Reaction; D013789:Thalassemia / Q000235:genetics*
chemical_list: D009841:Oligonucleotides; D005914:Globins; D006443:Hemoglobin A2