AMPLIFICATION REFRACTORY MUTATION SYSTEM (ARMS) AND REVERSE HYBRIDIZATION IN THE DETECTION OF BETA-THALASSEMIA MUTATIONS

Abstract

Background-Beta-thalassemia is the most common hereditary disorder in Iran and during the past 10 years, amplification refractory mutation system (ARMS) and restriction fragment length polymorphism (RFLP) were the sole molecular technique used for diagnosis of the disease. Although many beta-globin gene mutations exist in the Iranian multiethnic population, these techniques seem labor-intensive, time-consuming and expensive. This has urged us to use new techniques such as reverse hybridization and direct sequencing this issue. Methods-In this study, reverse hybridization was applied in parallel with ARMS to screen for the 10 most common beta-thalassemia mutations and hemoglobin S in 82 patients clinically diagnosed as beta-thalassemia minor and major. Results-From the 82 cases detectable by both methods, 80 had similar results. Compared to ARMS, reverse hybridization appeared to be more reliable, cost-effective, fast and applicable. Conclusion-Considering the vast spectrum of beta-thalassemia mutations in Iran, a fast and reliable technique such as reverse hybridization represents vital advantages in comparison with the traditional diagnostic methods. In fact, it is recommended as the technique of choice that can be employed by the National Thalassemia Project for the detection and prenatal diagnosis of beta-thalassemia in Iran.