title: Three new beta-globin gene promoter mutations identified through newborn screening.
abstract: We report three new beta-globin gene promoter mutations identified in newborns with hemoglobin (Hb) profiles consistent with Hb S/beta(+)-thalassemia (thal) (Hbs FSA). All three mutations are in close proximity to the conserved ATAA sequence located at positions -31 to -28 relative to the mRNA Cap site. Two cases involved single base substitutions at positions -25 (G-->C) and -32 (C-->T). The remaining case involved the deletion of two bases (-AA) at positions -27 and -26.
authors.affiliation: Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada.
authors.forename: Barry
authors.initials: B
authors.lastname: Eng
authors.forename: Lynda
authors.initials: L
authors.lastname: Walker
authors.forename: Lisa M
authors.initials: LM
authors.lastname: Nakamura
authors.forename: Carolyn
authors.initials: C
authors.lastname: Hoppe
authors.forename: Mahin
authors.initials: M
authors.lastname: Azimi
authors.forename: Helen
authors.initials: H
authors.lastname: Lee
authors.forename: John S
authors.initials: JS
authors.lastname: Waye
mesh_terms: D001483:Base Sequence; D044383:Black People / Q000235:genetics; D017124:Conserved Sequence; D005006:Ethnicity; D005319:Fetal Hemoglobin / Q000235:genetics; D005914:Globins / Q000235:genetics*; D006441:Hemoglobin A / Q000235:genetics; D006451:Hemoglobin, Sickle / Q000235:genetics; D006630:Hispanic or Latino; D006801:Humans; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D009154:Mutation; D015997:Neonatal Screening; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D006451:Hemoglobin, Sickle; D005914:Globins; D006441:Hemoglobin A; D005319:Fetal Hemoglobin