Consanguineous Marriages and Common Mutations in Iran: Two Key Points to Consider

Iran's diverse ethnic groups contribute to a unique genetic landscape, impacted by the high rate of consanguineous marriages and the prevalence of common mutation carriers. This leads to a higher incidence of autosomal recessive diseases, including congenital adrenal hyperplasia (CAH), non-syndromic hearing loss, beta-thalassemia, spinal muscular atrophy (SMA), and long QT syndrome (LQT). Common mutations causing these disorders vary across regions and ethnicities, emphasizing the need for tailored genetic screening programs. Advances in molecular diagnostics, like Next-Generation Sequencing and Whole Exome Sequencing, improve early detection and management of these conditions. National genetic screening programs have reduced beta-thalassemia incidence and are essential for informed reproductive decisions. These findings underscore the need for comprehensive public health strategies to tackle genetic disease burdens across Iran’s communities.