Trends in premarital hemoglobinopathy screening and genetic counseling outcomes: A serial cross-sectional analysis of Saudi National Registry Data (2016–2023)

Abstract: BACKGROUND: Thalassemia and sickle cell disease are the most prevalent inherited hemoglobinopathies in Saudi Arabia, imposing substantial clinical and economic burden. The Saudi mandatory premarital screening and genetic counseling program, established in 2004, represents a primary prevention strategy intended to reduce hemoglobinopathy transmission through carrier identification and reproductive counseling. Comprehensive national evaluation of program coverage, carrier detection rates, and genetic counseling outcomes across subnational strata remains limited.