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Genomic Landscape of Sickle Cell Disease in Saudi Arabia

Genomic Landscape of Sickle Cell Disease in Saudi Arabia

Paperback

Medical Reference

ISBN10: 6209871445
ISBN13: 9786209871443
Publisher: LAP Lambert Academic Publishing
Published: Apr 21 2026
Pages: 132
Weight: 0.41
Height: 0.31 Width: 6.00 Depth: 9.00
Language: English
Sickle cell disease (SCD) is a hereditary blood disorder with a disproportionately high burden in Saudi Arabia. Despite decades of global research, its genomic understanding has remained largely confined to African-descent populations, leaving a critical knowledge gap for Middle Eastern patients.This book presents three interconnected genome-wide association studies on the largest genotyped Saudi SCD cohort to date. It reveals that classical thrombophilic genes do not drive thromboembolic risk in Saudi patients; instead, novel loci - particularly within olfactory receptor gene clusters - play a central role. A case-control GWAS maps the genomic architecture of SCD, uncovering population-specific variants in genes governing hemoglobin regulation, immune response, and vascular function. These discoveries are translated into therapeutic leads, identifying drugs for repurposing - including statins, allopurinol, and immunomodulatory agents - and novel druggable targets.This work establishes that ethnicity-specific genomics is indispensable for precision medicine and lays the foundation for population-tailored diagnostics and therapies for SCD patients across the Middle East and beyond.

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Medical Reference