title: The spectrum of β-thalassemia mutations in Kermanshah Province in West Iran and its association with hematological parameters.
abstract: β-Thalassemia (β-thal) is a hereditary autosomal disorder with decreased or absent β-globin chain synthesis. Two hundred and one unrelated β-thal carriers, attending the Kermanshah Medical Genetics Laboratory, Kermanshah, Iran, were investigated for β-globin gene mutations by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and direct sequencing. Eighteen different mutations were identified in these subjects. Four of the mutations accounted for about 75.0% of the studied cases. IVS-II-1 (G>A) was the most frequent (45.8%) followed by codons 8/9 (+G) (15.9%), IVS-I-110 (G>A) (8.0%), IVS-I-6 (T>C) (5.5%), IVS-I-1 (G>A) (3.5%) and codon 44 (-C) (3.5%); the remaining 12 mutations were present with a frequency less than 3.0%. The mean corpuscular volume (MCV) values for males and females were 63.7 ± 3.7 and 63.2 ± 3.2 fL, respectively, while these values were 19.3 ± 1.6 and 19.3 ± 1.4 pg for mean corpuscular hemoglobin (Hb) (MCH). The mean Hb A2 values for males and females were 4.4 ± 0.5 and 4.1 ± 0.6%, respectively. This study provides a distribution guide for β-thal mutations in Kermanshah Province, West Iran.
authors.affiliation: Medical Genetics Laboratory, Kermanshah University of Medical Sciences , Kermanshah , Iran.
authors.forename: Masomeh
authors.initials: M
authors.lastname: Mehrabi
authors.forename: Reza
authors.initials: R
authors.lastname: Alibakhshi
authors.forename: Soheila
authors.initials: S
authors.lastname: Fathollahi
authors.forename: Mohammad Reza
authors.initials: MR
authors.lastname: Farshchi
mesh_terms: D004909:Erythrocyte Indices; D005843:Geography; D006801:Humans; D007492:Iran; D009154:Mutation; D010641:Phenotype; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000097:blood* / Q000235:genetics*
chemical_list: D055544:beta-Globins