A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population

Area of Science:

• Genetics
• Hematology
• Molecular Biology

Background:

• Inherited blood disorders (IBDs) pose a significant health challenge in the Kingdom of Saudi Arabia (KSA).
• High prevalence of consanguineous marriages contributes to the burden of IBDs in KSA.
• Understanding the genetic landscape of IBDs is crucial for public health initiatives.

Purpose of the Study:

• To systematically review and summarize gene mutations and variants associated with IBDs in the Saudi population.
• To provide a comprehensive overview of the genetic basis of IBDs in KSA.
• To enhance diagnostic accuracy and facilitate personalized care strategies for IBDs in Saudi Arabia.

Main Methods:

• A systematic literature search was conducted across PubMed, Web of Science, Google Scholar, and EGEMS.
• Keywords included "gene," "Saudi," "polymorphism," and specific inherited blood disorders.
• 118 relevant studies published between 2015 and 2024 were included in the review.

Main Results:

• The β-globin (HBB) gene exhibits extensive mutational diversity, with over 60 β-thalassemia variants identified.
• α-globin genes (HBA1, HBA2, HBA12) are frequently implicated in α-thalassemia, notably the -α3.7 deletion.
• Sickle cell disease is primarily associated with the HbS mutation (c.20A>T) and the Arab-Indian haplotype, while thrombophilia and thrombocytopenia variants involve genes such as F5, SERPINC1, MPL, and THPO.

Conclusions:

• The Saudi population displays a unique and diverse spectrum of IBD-related genetic mutations.
• Knowledge of these specific genetic patterns is essential for improving diagnostic precision.
• Understanding Saudi IBD genetics supports genetic counseling and advances personalized medicine within the Kingdom.