title: Identification of the first mutation in a BRE motif of the β-globin gene and its inheritance with two other α-globin gene mutations in a Lebanese family.
abstract: A 7-year old boy presented with a history of recurrent respiratory infections and hypochromic microcytic anemia. Iron profiles were normal thereby prompting genetic analysis of α- and β-globin mutations. The first mutation in a BRE motif of the β-globin gene in the proband, sibling and the mother was identified. The proband and his sibling also inherited common α-globin mutations from the father and mother. In all cases, no serious thalassemia disease was detected.
authors.affiliation: Department of Pediatrics, Rafic Hariri University Hospital, Beirut, Lebanon. adlette.inati@lau.edu.lb
authors.forename: Adlette
authors.initials: A
authors.lastname: Inati
authors.forename: Hussein A
authors.initials: HA
authors.lastname: Abbas
authors.forename: Jad
authors.initials: J
authors.lastname: Al-Danaf
authors.forename: Mirna
authors.initials: M
authors.lastname: Souaid
authors.forename: Mario
authors.initials: M
authors.lastname: Kahale
authors.forename: Suzan
authors.initials: S
authors.lastname: Koussa
authors.forename: Therese
authors.initials: T
authors.lastname: Abou Nasr
authors.forename: Lance
authors.initials: L
authors.lastname: Davis
authors.forename: Hong-Yuan
authors.initials: HY
authors.lastname: Luo
authors.forename: David H K
authors.initials: DH
authors.lastname: Chui
mesh_terms: D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods*; D005192:Family Health; D005260:Female; D006801:Humans; D007861:Lebanon; D008297:Male; D009154:Mutation; D059372:Nucleotide Motifs / Q000235:genetics; D013789:Thalassemia / Q000175:diagnosis / Q000235:genetics; D055542:alpha-Globins / Q000235:genetics*; D055544:beta-Globins / Q000235:genetics*
chemical_list: D055542:alpha-Globins; D055544:beta-Globins