Thrombophilic Mutations Among Patients with Sickle Cell Disease.

BACKGROUND: Factor V-Leiden (FVL), Prothrombin (PRT) G20210A, and Methylene Tetrahydro Folate Reductase (MTHFR) C677T and A1298C mutations are major inherited risk factors of thrombotic complications. Our aim in this study was to investigate the prevalence of these mutations among Tunisian sickle cell patients.

METHODS: Study subjects comprised 64 patients and 100 healthy controls. FVL, PRT G20210A, and MTHFR genotypes were determined using a reverse dot blot based method.

RESULTS: In the patient population studied, the prevalence of FV Leiden was not statistically different from controls while a significant prevalence of heterozygous PRT G20210A mutation among patients (10.93%) was found. An increased frequency of the MTHFR 677 C>T genotype was seen among patients as well as controls. The results showed no significant association between the MTHFR A1298C mutation and sickle cell disease (SCD). However, the prevalence of carrier among studied patients was 15.62% compared to 7% among healthy subjects.

CONCLUSIONS: In conclusion, our data suggest a significant association between PRT G20210A and MTHFR C677T and sickle cell disease among Tunisian patients.