Thalassemia, an inherited blood disorder, remains a significant public health concern in Saudi Arabia, largely due to the high prevalence of consanguinity. This systematic review and meta-analysis aimed to estimate the prevalence of thalassemia across the country and evaluate regional variations. Following Preferred Reporting Items, for Systematic Reviews and Meta-Analyses guidelines, databases including PubMed and Scopus were searched, and 10 studies were included in the final analysis. The overall pooled prevalence of thalassemia was 0.7%, with an adjusted estimate of 0.62% after excluding outliers, reflecting a slightly lower rate. The highest prevalence was recorded in the Eastern and Jazan provinces, regions with the highest rates of consanguineous marriages. Variations in thalassemia prevalence were observed between adult and pediatric populations, though pediatric data were limited. The Premarital Screening and Genetic Counseling program, introduced to reduce the incidence of genetic disorders like thalassemia, had a positive impact, yet thalassemia remains common, particularly in high-risk regions. Despite the program’s implementation, some couples proceed with high-risk marriages due to familial or societal pressures, indicating the need for broader public health interventions. This study highlighted the ongoing challenges in combating thalassemia in Saudi Arabia and underscored the importance of enhancing genetic counseling, expanding awareness campaigns, and improving access to preventative services. These efforts are critical to reducing the burden of thalassemia and improving public health outcomes across the country, particularly in regions with high consanguinity rates.
Key words: Thalassemia, Saudi Arabia, prevalence, consanguinity, genetic counseling
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