Human mutation · 2026
A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population.
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Younis Nancy S, Alkabsh Rahma M, Nasser Alqahtani Shahad M, Aljuail Hajer, Alhashim Manar A, Bokhamsin Shahad A, Albaqshi Layla J, Alqadhib Salsabil F, Aldandan Jumanah A, Alshakhs Zahra A, Altaweel Maryam H, Mohamed Maged E
Аннотация
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.
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.