Frequency of Factor V-Leiden, Prothrombin G20210A, and Methylenetetrahydrofolate reductase mutations (c677t) among patients in Mulago sickle cell clinic

Abstract

Sickle cell diseases (SCD) is the major cause of death among children under 5 years. Some genetic polymorphisms associated with thrombophilia are known to increase the severity and frequency of this complication in sickle cell patients. This study aims to investigate the frequency of MTHFR C677T, FVL G1691A and Prothrombin G20210A gene polymorphisms among SCD patients and Healthy controls in Uganda. This was a case control study using archived clinical blood samples comprised of 123 sickle cell disease samples and 152 healthy controls samples from Mulago Sickle Cell Clinic. Genotyping was done using allele specific PCR for detection of MTHFR C677T, FVL G1691A, and Prothrombin G20210A gene mutations. The frequency of MTHFR C677T gene polymorphisms was 77.69% (101 of 130) in SCD patients and 56% (70 of 125) in healthy controls (X2=13.375, DF=2, P=0.001). The CT (heterozygous) genotypes of MTHFR C677T variants was more likely to occur in SCD patients than controls (OR=2.739, 95%CI: 1.57-4.76, P<0.001). In this study, the overall prevalence of Prothrombin G20210A gene mutation was 6.2% (8 of 129) in SCD patients and 2.14% (3 of 140) in healthy controls (X2=2.832, DF=2, P=0.243). There was no FVL G1691A gene polymorphism in this study population. From this study it can be concluded that, the MTHFR C677T polymorphisms was significantly high among SCD patients than healthy controls. Therefore, it may be a risk factor for severe vascular complications seen in some patients with sickle cell disease.