Chorionic villus sampling for the diagnosis of beta thalassemia in the first trimester of pregnancy in southwest Iran

Background and aim: Beta thalassemia is one of the most common hereditary disorders in Iran. The aim of this study is to improve the quality of life of couples with thalassemia and prenatal diagnosis of thalassemia major through the chorionic villus sampling technique. Methods: This prospective study was conducted on couples suffering from thalassemia minor who referred to Narges Genetics Laboratory in Ahvaz in 1400. For preventive measures, blood samples were taken from volunteers. Then, the couples who had HbA2 above 3.5 and were in the 10th to 13th week of pregnancy continued the treatment by performing chorionic villus sampling in order to evaluate the health of the fetus. Chorionic villus sampling was performed under local anesthesia with a needle from the abdominal area of ​​pregnant women, and about 5-10 cc were collected from placental trophoblastic villi. SPSS version 18 software and t-test and chi-square were used for statistical analysis of data.. Results: A total of 91 pregnant women underwent chorionic villus sampling. 38 (41.8%) had thalassemia minor, 25 (27.5%) had thalassemia major. The kinship relationship between the couples was also investigated. There was no significant relationship between the kinship relationship and the incidence of thalassemia major. 20 (30%) had a child with thalassemia major and 60 (66%) had a child with thalassemia minor. Fetuses with thalassemia major were seen in mothers with blood group A+ (38%) and O+ (35%). Thalassemia major was found in 39 people (42.8%) in Fars and 1 person (1%) in Kurds. Conclusion: Chorionic villus sampling technique is an accurate method without significant risk for the mother and fetus. This method can be used to diagnose beta-thalassemia before birth.