Subnational epidemiological variation in mandatory premarital screening outcomes in Saudi Arabia

Premarital screening (PMS) programs are used to reduce the burden of inherited and blood-borne diseases, particularly in populations with high rates of consanguinity. In Saudi Arabia, national PMS indicators suggest changing epidemiological patterns, but aggregated data may obscure sub-national heterogeneity and overstate program success. This study aimed to examine PMS prevalence outputs in a low-prevalence region to assess how uniform national screening frameworks generate divergent epidemiological patterns across heterogeneous populations. We conducted a retrospective cross-sectional analysis of routine PMS registry data from the Genetic Center at Dawadmi General Hospital, Saudi Arabia, covering January 2022 to December 2023. All individuals aged 18–40 years undergoing mandatory screening were included. Prevalence of sickle cell disease, thalassemia, hepatitis B virus (HBV), and hepatitis C virus (HCV) was estimated overall and stratified by year and sex, with 95% confidence intervals calculated using exact binomial methods. Among 2,370 individuals screened, hemoglobinopathies were uncommon, with a prevalence of any hemoglobinopathy of 0.18% in 2022 and 0.33% in 2023. HBV prevalence was 0.53% in 2022 and 0.57% in 2023, while HCV infection was detected in one individual in 2022 and in none in 2023. The observed estimates were lower than those reported in selected Saudi populations, although comparisons are limited by differences in study populations, periods, and outcome definitions. The findings are consistent with subnational epidemiological heterogeneity in PMS-derived prevalence estimates. However, the present data cannot determine whether the observed differences are attributable to population structure, behavioral factors, surveillance characteristics, or other contextual determinants. Longer-term, multi-regional surveillance that incorporates relevant demographic and social variables is needed.