title: Hb AHVAZ [α83(F4)Leu→Arg, CTG>CGG (α2); HBA2: c.251T>G],a new hemoglobin variant of the α2-globin gene.
abstract: We report a novel mutation on the α2-globin gene, codon 83 (T>G), which was detected in two members of two unrelated families from Khuzestan Province, South Iran, that we named Hb Ahvaz. This mutation was detected by cellulose acetate electrophoresis and characterized by molecular studies. Hb Ahvaz does not seem to be responsible for hematological abnormalities in the carriers, but with α(0)-thalassemia (α(0)-thal) defects, might induce severe clinical symptoms.
authors.affiliation: Department of Molecular Medicine, Biotechnology Research Centre, Pasteur Institute of Iran, Tehran, Iran. hamid143@yahoo.com
authors.forename: Mohammad
authors.initials: M
authors.lastname: Hamid
authors.forename: Gholamreza
authors.initials: G
authors.lastname: Shariati
authors.forename: Alihossein
authors.initials: A
authors.lastname: Saberi
authors.forename: Hamid
authors.initials: H
authors.lastname: Galehdari
authors.forename: Bijan
authors.initials: B
authors.lastname: Kaikhaei
authors.forename: Marziye
authors.initials: M
authors.lastname: Mohammadi-Anaei
mesh_terms: D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006443:Hemoglobin A2 / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007492:Iran; D008297:Male; D009154:Mutation; D055815:Young Adult
chemical_list: D006455:Hemoglobins, Abnormal; C587569:hemoglobin Hb Ahvaz; D006443:Hemoglobin A2