title: Detection of Hb Setif in north Iran and the question of its origin: Iranian or multiethnic?
abstract: Hb Setif is a rare type of hemoglobinopathy resulting from an aspartic acid to tyrosine substitution at codon 94 (GAC>TAC) of the α2-globin gene. In manual and automated hemoglobin (Hb) electrophoresis examination of the case, an unusual band was detected and the result of subsequent capillary electrophoresis suggested that to be Hb Setif. Carrying out polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing, a typical Hb Setif mutation (GAC>TAC) was identified. The haplotype of the α cluster was + + - M PZ + - - - -. This is the first report of such a hemoglobinopathy in North Iran. Various reports of such Hb variants in Iran and countries in the Mediterranean region and North Africa, suggest that the mutation may have occurred around 6,000 years ago, prior to colonization of Aryans on the Iranian plateau.
authors.affiliation: Thalassemia Research Center, Mazandaran University of Medical Sciences, Sari, Iran.
authors.forename: Mohammad Reza
authors.initials: MR
authors.lastname: Mahdavi
authors.forename: Mehran
authors.initials: M
authors.lastname: Karimi
authors.forename: Majid
authors.initials: M
authors.lastname: Yavarian
authors.forename: Payam
authors.initials: P
authors.lastname: Roshan
authors.forename: Mehrnoush
authors.initials: M
authors.lastname: Kosaryan
authors.forename: Rita
authors.initials: R
authors.lastname: Siami
mesh_terms: D000328:Adult; D000368:Aged; D001483:Base Sequence; D003062:Codon; D005091:Exons; D005260:Female; D023061:Gene Order; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D055029:Inverted Repeat Sequences / Q000235:genetics; D007492:Iran; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D055542:alpha-Globins / Q000235:genetics
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C040665:Hemoglobin Setif