title: The Frequency of HBB Mutations Among β-Thalassemia Patients in Hamadan Province, Iran.
abstract: β-Thalassemia (β-thal) caused by mutations on the HBB gene is the most common single-gene disorder in the world. In this study, the HBB gene mutation was investigated in Hamadan province, Iran. Forty-one patients referred to a referral hospital were admitted to the study. DNA samples were extracted from peripheral blood. The HBB gene was sequenced in all recruited patients. Eleven mutations and eight polymorphisms were found in the studied patients. IVS-II-1 (G>A) (HBB: c.315+1 G>A) was the most common mutation, accounting for 25.61% of mutant alleles. Other mutations included codon 8 (-AA) (HBB: c.25-26delAA); IVS-I-110 (G>A) (HBB: c.93-21 G>A); codons 8/9 (+G) (HBB: c.27-28insG); IVS-I-1 (G>A) (HBB: c.92 G>A); codon 44 (-C) (HBB: c.135delC); codons 25/26 (+T) (HBB: c.78-79insT); IVS-I-130 (G>C) (HBB: c.93-1 G>C); -28 (A>C) (HBB: c.-78 A>C); codons 36/37 (-T) (HBB: c.112delT) and IVS-I-6 (T>C) (HBB: c.92+6 T>C). According to our findings, the IVS-II-1 mutation has the highest prevalence in Hamadan Province. It was found that the total frequency of the IVS-II-1, codons 25/26 (+T), codons 8/9 (+G), IVS-I-110 and IVS-I-1 mutations was 82.92%. Therefore, given these findings, it is recommended that these five mutations are screened for as a first step in laboratories without sequencing instruments, and that the rest of the gene is subsequently examined.
authors.affiliation: a Department of Genetics, Faculty of Science , Zanjan Branch, Islamic Azad University , Zanjan , Iran.
authors.forename: Masoumeh
authors.initials: M
authors.lastname: Jalilian
authors.affiliation: b Department of Microbiology, Faculty of Medicine , Hamadan University of Medical Sciences , Hamadan , Iran.
authors.forename: Farid
authors.initials: F
authors.lastname: Azizi Jalilian
authors.affiliation: c Department of Genetics, Faculty of Science , Shahid Chamran University , Ahvaz , Iran.
authors.forename: Leila
authors.initials: L
authors.lastname: Ahmadi
authors.affiliation: d Department of Molecular Medicine, Faculty of Medicine , Hamadan University of Medical Sciences , Hamadan , Iran.
authors.forename: Razieh
authors.initials: R
authors.lastname: Amini
authors.affiliation: e Department of Pediatrics (Division of Oncology), Faculty of Medicine , Hamadan University of Medical Sciences , Hamadan , Iran.
authors.forename: Hossein
authors.initials: H
authors.lastname: Esfehani
authors.affiliation: f Division of Thalassemia, Besat Hospital , Hamadan University of Medical Sciences , Hamadan , Iran.
authors.forename: Maryam
authors.initials: M
authors.lastname: Sosanian
authors.affiliation: g Genetic Research Laboratory, Rajaie Cardiovascular Medical and Research Center , Iran University of Medical Sciences , Tehran , Iran.
authors.forename: Bahareh
authors.initials: B
authors.lastname: Rabbani
authors.affiliation: g Genetic Research Laboratory, Rajaie Cardiovascular Medical and Research Center , Iran University of Medical Sciences , Tehran , Iran.
authors.forename: Majid
authors.initials: M
authors.lastname: Maleki
authors.affiliation: g Genetic Research Laboratory, Rajaie Cardiovascular Medical and Research Center , Iran University of Medical Sciences , Tehran , Iran.
authors.forename: Nejat
authors.initials: N
authors.lastname: Mahdieh
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D003062:Codon; D003430:Cross-Sectional Studies; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007438:Introns; D007492:Iran / Q000453:epidemiology / Q000208:ethnology; D009154:Mutation; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000453:epidemiology* / Q000235:genetics*
chemical_list: D003062:Codon; D055544:beta-Globins
keywords: HBB mutations; Hamadan, Iran; thalassemia