title: Characterization of Homozygous Hb Setif (HBA2: c.283G>T) in the Iranian Population.
abstract: Hemoglobin (Hb) variants are abnormalities resulting from point mutations in either of the two α-globin genes (HBA2 or HBA1) or the β-globin gene (HBB). Various reports of Hb variants have been described in Iran and other countries around the world. Hb Setif (or HBA2: c.283G>T) is one of these variants with a mutation at codon 94 of of the α2-globin gene that is characterized in clinically normal heterozygous individuals. We here report clinical and hematological findings in two homozygous cases of Iranian origin for this unstable Hb variant.
authors.affiliation: a Genetics Research Centre, University of Social Welfare & Rehabilitation Sciences , Tehran , Iran.|b Kariminejad-Najmabadi Pathology & Genetics Centre , Tehran , Iran.
authors.forename: Samaneh
authors.initials: S
authors.lastname: Farashi
authors.affiliation: b Kariminejad-Najmabadi Pathology & Genetics Centre , Tehran , Iran.
authors.forename: Negin F
authors.initials: NF
authors.lastname: Garous
authors.affiliation: b Kariminejad-Najmabadi Pathology & Genetics Centre , Tehran , Iran.
authors.forename: Shadi
authors.initials: S
authors.lastname: Vakili
authors.affiliation: b Kariminejad-Najmabadi Pathology & Genetics Centre , Tehran , Iran.
authors.forename: Mehri
authors.initials: M
authors.lastname: Ashki
authors.affiliation: b Kariminejad-Najmabadi Pathology & Genetics Centre , Tehran , Iran.
authors.forename: Hashem
authors.initials: H
authors.lastname: Imanian
authors.affiliation: b Kariminejad-Najmabadi Pathology & Genetics Centre , Tehran , Iran.|c Iranian Blood Transfusion Organization, High Institute for Transfusion Research Centre , Tehran , Iran.
authors.forename: Azita
authors.initials: A
authors.lastname: Azarkeivan
authors.affiliation: a Genetics Research Centre, University of Social Welfare & Rehabilitation Sciences , Tehran , Iran.|b Kariminejad-Najmabadi Pathology & Genetics Centre , Tehran , Iran.
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
mesh_terms: D000328:Adult; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007492:Iran; D017354:Point Mutation; D055542:alpha-Globins / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C040665:Hemoglobin Setif
keywords: Hb Setif; Iran; hemoglobin (Hb) variants; α-Globin genes