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

Abstract

Aim: The present study observed the relationship between the methylenetetrahydrofolate reductasegenotypes and clinical outcome in children with sickle cell disorder. Methodology: A total of249 children were recruited for the study and evaluated clinically for calculating severity score, homocysteine levels and C677T and A1298C genotyping. Results: 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. Conclusion: C677T depicted significant association with clinical severity in study population.