Methylenetetrahydrofolate reductase (MTHFR c677t) polymorphism in Sudanese patients with sickle cell Anaemia

Sickle cell anemia (SCA) is one of the major types of anemia found in Sudan. Numerous studies provide Hypercoagulable state in SCA. Many genetic polymorphisms are considered as a risk factor for Hypercoagulability in sickle cell anemia. The aim of this study was to examine the association of MTHFR (C677T) polymorphism with the risk of vaso-occlusive crisis (VOC) among sickle cell (SC) patients in Sudan. The study included 34 SC patients with VOC, their fibrinogen level (measured by Clauss modified method), D-Dimer (measured by i-CHROMATM system), MTHFR C677T genotype frequencies (detected by PCR/RFLP) and haematological charecteristics (Sysmex KX-21N) were determined and compared with 62 SC patients in steady state, without history of previous VOC, as control. Fibrinogen and D-Dimer levels were elevated in all SC patients either in steady state or with VOC, the levels were significantly higher among SC patients with VOC than those in steady state. Our study showed low frequency of mutant MTHFR C677T genotype with 1% TT genotype (homozygote) & 12% CT (heterozygote) with no signifi¬cant association of MTHFR C677T polymorphisms with the risk of VOC in SCA. In conclusion, our data suggest a low impact of MTHFR C677T polymorphism as risk factors in the pathogenesis of VOC among the study group.