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A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population
Nancy S Younis1, Rahma M Alkabsh1, Shahad M Nasser Alqahtani1
1Department of Pharmaceutical Sciences, College of Clinical Pharmacy, King Faisal University, Al-Ahsa, Saudi Arabia, kfu.edu.sa.
Background:
Inherited blood disorders (IBDs) are a major health concern in the Kingdom of Saudi Arabia (KSA), largely due to the high prevalence of consanguineous marriages.
Objectives:
This review is aimed at summarizing gene mutations and variants associated with IBDs in the Saudi population to enhance diagnosis and personalized care.
Methods:
Published studies on IBD-related genetic mutations in Saudis were systematically retrieved from PubMed, Web of Science, Google Scholar, and EGEMS database using keywords "gene," "Saudi," "polymorphism," and "the different inherited blood disorders." A total of 118 studies published between 2015 and 2024 met the inclusion criteria.
Results:
The β-globin (HBB) gene showed the greatest mutational diversity, with over 60 β-thalassemia variants identified. The α-globin genes (HBA1, HBA2, and the unique HBA12) were frequently involved in α-thalassemia, with the -α3.7 deletion predominating. In sickle cell disease, the HbS mutation (c.20A>T) is the most common, primarily linked to the Arab-Indian haplotype, whereas polymorphisms in BCL11A, HBS1L-MYB, and ANTXR1 influenced fetal hemoglobin levels. Frequent thrombophilia-related variants occurred in F5, SERPINC1, MTHFR, and FII, and inherited thrombocytopenias were linked to MPL, ANKRD26, THPO, DIAPH1, and ADAMTS13. Rare disorders such as Wiskott-Aldrich syndrome (WAS) and coagulation factor deficiencies (e.g., FX, F7, and F8) were also reported.
Conclusion:
The Saudi population exhibits a distinct and diverse spectrum of IBD-related mutations. Understanding these genetic patterns can enhance diagnostic precision, guide genetic counseling, and advance personalized medicine initiatives across the Kingdom.
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