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 dis-orders 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 A2 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, re-verse 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%