Homocysteine Levels and MTHFR C677T/A1298C Genetic Polymorphisms as Potential Risk Factors for Vascular Occlusion in Sudanese Patients with hemoglobin S

الملخص

Background: Sickle cell anemia is a hereditary hemoglobinopathy characterized by chronic hemolysis and recurrent vaso-occlusive episodes that contribute to significant morbidity. The mechanism of vascular occlusion includes endothelial dysfunction, chronic inflammation, and hypercoagulability. High levels of homocysteine, a biomarker influenced by folate-dependent one-carbon metabolism, have been implicated in endothelial injury and thrombosis. Genetic variants in the gene coding for methylenetetrahydrofolate reductase, mainly C677T and A1298C, may result in altered enzyme activity that increases homocysteine levels and possibly modifies the risk of vaso-occlusive episodes in SCA. However, data are still limited from African populations, including Sudan.