RESUMO
ß-Thalassemia (ß-thal) is a hereditary autosomal disorder with decreased or absent ß-globin chain synthesis. Two hundred and one unrelated ß-thal carriers, attending the Kermanshah Medical Genetics Laboratory, Kermanshah, Iran, were investigated for ß-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 ß-thal mutations in Kermanshah Province, West Iran.
