Methylenetetrahydrofolate reductase polymorphisms as genetic markers to predict homocysteinemia and clinical severity in sickle cell disease.

The present study observed the relationship between the methylenetetrahydrofolate reductase genotypes and clinical outcome in children with sickle cell disorder. A total of 249 children were recruited for the study and evaluated clinically for calculating severity score, homocysteine levels and C677T and A1298C genotyping. The frequencies of variant genotypes were 28.1% CT/TT677 and 69.1% AC/CC1298. Plasma homocysteine was significantly elevated in variant groups (p < 0.001). Both the genotypes accorded significant association with homocysteinemia (p < 0.001). Vascular crisis (p = 0.04), frequency of hospitalization (p < 0.001) and severity score (p = 0.02) revealed association with C677T and not with A1298C. The CT/TT677 genotypes showed 3.39-times (p = 0.032) increase in a higher score for severity. C677T depicted significant association with clinical severity in study population.