The frequency of common beta-thalassemia mutations among couples referred to health centers of Ilam during a five years period

Thalassemia is the most common autosomal recessive disease in the world. HBB gene mutations cause the disease. The high rate of consanguineous marriages in our country can be one of the factors that increases the incidence of this disease. The aim of this study was to determine the beta-globin gene mutations in the city of Ilam. hematologic parameters of patients referred to health centers of Ilam city during 87-91 years, were evaluated for the presence of thalassemia trait, then, the suspected couples were investigated for HBB gene mutations. the following mutations IVSII-1, IVSI-5, IVSI-6, CD36/37, Fr8-9 and CD82/83 were found. IVSII-1 mutation was more common than other mutations among the studied subjects. IVSII-1 mutation probably has occurred for the first time in Iranian population. Beta-thalassemia mutations vary among different ethnic groups of Iran. It is recommended that each ethnic and race to be studied separately.