Frequency distribution of the methylenetetrahydrofolate reductase polymorphisms in sickle cell hemoglobinopathy-A hospital based study in central India

BackgroundCoexistence of polymorphisms methylenetetrahydrofolate reductase (MTHFR) with sickle cell gene exerts synergistic effect on complications associated hemoglobinopathy. Therefore, the study was planned to determine frequency distribution MTHFR C677T and A1298C genotypes in children diagnosed disease.MethodsA total 249 anemia, between age group 5–18 years, were enrolled for cross sectional study. The demographic clinical details entered a structured questionnaire. Collected blood samples analyzed hemoglobin DNA extracted genotypic assay single nucleotide (SNPs) by Real-time PCR.ResultsThe groups comprised 218 trait (SCT) 31 disease (SCD) children. caste two quite uniform (X231 = 44.21, p 0.06). Frequencies homozygous mutants 677TT 1298CC 2% 19.7% respectively. odds variant forms both SNPs found be greater SCD group. allelic frequencies did not reveal any preponderance. mean (p 0.001), weight < height BMI 0.001) concentrations 0.002) lower but so also depicted significant association anemia 0.001).ConclusionHomozygous mutant variants would essential genetic markers especially identify vulnerable who frequently get hospitalized vascular complications.