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Abstract Vaso-occlusion is a determinant for most signs and symptoms of sickle-cell anemia (SCA). Elevated Homocysteine concentration contribute to thrombosis, a frequent event in sickle cell anemia. Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme, which regulates homocysteine metabolism, and some polymorphisms of gene encoding this enzyme are associated with a decreased activity of the enzyme. The aim of the study was to assess an association between the C677T, A1298C polymorphisms and the frequency of vasoocclusive crisis. A case- control study was carried over a period of one year from Jan.- Dec. 2014 inclusive, 50 sickle cell disease patients were collected together with 30 age, and sex matched apparently healthy control cases.Serum homocysteine, folic acid, C677T and A1298C polymorphism identification through tetra primer ARMS PCR were performed. Homocysteine level was significantly higher in the patients group compared with control group with p value > 0.01. Moreover, a strong positive correlation between homocysteine level and the frequency of vaso-occlusive crisis was found (×2 4.836 and p value 0.04). Association between vaso-occlusive events and polymorphism frequency showed a non significant difference for both the C677T and the A1298C polymorphisms (χ2 = 0.206; p = 0.9020) and (χ2 = 1.720; p = 0.4231) respectively. This study concludes that hyperomocysteinaemia is positively correlated with the frequency of vaso-occlusive crisis and neither the presence of C677T nor A1298C MTHFR gene polymorphism are risk factors for vaso-occlusive crisis in the SCD patients evaluated… |