Molecular study of patients with thalassemia major in Ardabil Province

Thalassemia is a common disease caused by mutations in the beta globins gene. Today, this disease is high frequency due to some factors including lack of control, the increase of population growth, and lack of implementation of appropriate methods of family planning. In present study, the molecular β-thalassemia has been investigated in patients with thalassemia major in Ardabil, Iran. Blood samples of patients were collected over the province and in the process of collecting; sampling of venous blood was performed under blood expert guidance and with the consent of 50 patients with β-thalassemia major. The samples were stored at -70 ºC in the freezer and DNA after extraction was amplified by amplification refractory mutation system - polymerase chain reaction (ARMS-PCR) method. The results showed that the frequency of mutation was 16%, 14% and 4% for IVSI-110, IVSII-1 and IVSI-5 mutations, respectively. It can be concluded that the incidence of β-thalassemia major in Ardabil IVSI-110 has the highest ratio of the disease, IVSII-1 is in the second place and IVSI-5 has a bit effect on the creation of thalassemia major patients. It is recommended to create a database of mutations in β-thalassemia patients to find appropriate therapeutic solutions.