distribution of β-globin gene mutations in thalassemia minor population of kerman province, iran

background: mutations in β -globin gene may result in β-thalassemia major, which is one of the most common genetic dis­or­ders in iran and some other countries. knowing the beta-globin mutation spectrum improves the efficiency of prenatal diagno­sis in the affected fetuses (major β-thalassemia) of heterozygote couples. methods: couples with high hemoglobin a 2 and low mean corpuscular volume were studied as suspicious of β-thalassemia carri­ers in genetic laboratory of afzalipour hospital, kerman, iran. we used amplification refractory mutation system, re­verse hybridization, and dna sequencing to determine the spectrum of β -globin gene mutation in the people who involved with β -thalassemia minor in this province. results: among the 266 subjects, 17 different types of mutation in β -globin gene were identified. three of the mutations ac­count for 77.1% of the studied cases. ivsi-5(g> c) was the most frequent mutation (66.2%) followed by ivsii-i (g> a) (6%) and fr 8-9 (+g) (4.9%). the less frequent mutations include: ivsi-6(t> c), codon 15 (g>a), codon 44 (-c), codon 39 (c>t), codon 8 (-aa), codon30 (g> c), ivsi-110 (g > a), codon 36-37 (-t), 619bp deletion, codon 5 (-ct), ivsi-25bp del, codon 41-42(-ttct), ivsi-i (g> a), and βnt30 (t>a) were accounted for 19.5%. unknown alleles comprised 3.4% of the mutations. conclusion: however, the frequencies of different mutations reported here are significantly different from those found in other part of the world and even other iranian provinces. reporting a number of these mutations in the neighboring coun­tries such as pakistan can be explained by gene flow phenomenon.