Tailoring Genetic Approaches for Easier Detection of Anti-3.7 Alpha-Globin Gene Triplication in the Iranian...

In β-thalassemia carriers, the presence of one or two extra copies of the α-globin genes may exacerbate clinical manifestations and lead to a more severe phenotype than would normally be expected. Given the high prevalence of thalassemia in Iran and the limited number of studies on ααα^anti-3.7, the aim of this study was to conduct a population-based study in Iran and to develop a practical, cost-effective method to detect the most common ααα^anti-3.7 variants in the Iranian population. A total of 110 individuals with β-thalassemia minor whose hematological parameters were below the mean of the study population were analyzed for the ααα^anti-3.7 triplication, which was characterized in six carriers by MLPA. Based on these data, a novel PCR test was developed to detect the most common ααα^anti-3.7 variants and was evaluated using samples with known genotypes. Among β-thalassemia minor carriers with below-average hematological parameters, the frequency of ααα^anti-3.7 carriers was 5.5% (6/110). MLPA analysis identified D and F as the ααα^anti-3.7 variants in Iranian carriers. The newly developed PCR method successfully identified the triplication in all positive samples. This study provides a foundation for large-scale epidemiological investigations of the ααα^anti-3.7 triplication in Iran. The developed method has the potential for routine diagnostic screening of ααα^anti-3.7 in the Iranian population.