Prenatal Diagnosis (PND) of beta-Thalassemia in the Khuzestan Province, Iran

beta-Thalassemia is present in practically every caste group in Iran. Khuzestan is located in the southern part of the geographical region of Iran. The beta-thalassemia incidence in the Khuzestan province is between 2.6-3.7%, as reported by different researchers. Reverse dot blot hybridization and Amplification Refractory mutation Analysis (ARMS), were used to scan the entire beta-globin gene to localize the mutation, followed by DNA sequencing for characterization. The DNA samples from 254 subjects (127 thalassemia patients and 127 choronic villi samples) had been referred to us at the Research Center of Thalassemia and Hemoglobinopathies of Ahwaz Jondishapur University of medical sciences, Iran. According to our study, CD 36/37 (-T) and IVS 2-1 (G to C) were the most frequent mutation types (14.7 %) in our province, the same as in other geographical regions of Iran. Also, the most predominant mutations which lead to termination of pregnancy of those couples in the first trimester of first pregnancy, CD 6 or HbS (22.5 %), IVS 2-1 (17.5%), CD 36/37 (15%), CD 44(12.5%), and IVSI-110 (12.5 %) mutations, were detected in 40 foetuses, and compound heterozygosity was detected in various combinations for IVSI-110, IVSII-745, IVSI-6, IVSI-1, IVSII-1, IVSI-5, IVSI-130, CD 8. HbS mutations were detected in 13 foetuses, who were later aborted, with the written permission of their families. In conclusion, our preliminary results show the heterogeneity of the beta-thalassemia mutations in the province of Khuzestan. Our data is valuable, in that it includes the mutation screening of patients for prenatal diagnosis in Khuzestan and nearby towns and villages, one of the regions with the highest frequency of beta-thalassemia mutations in Iran. In addition to discovering novel and rare mutations in the rich genetic pool of our region, this study was carried out in order to reduce the frequency of consanguineous marriages and haemoglobinopathies, to educate the population, and to inform the physicians in our region.