Genetic mutations among a group of patients with unstimulated thrombosis in Sulaymaniyah Northeastern Iraq

Abstract

BACKGROUND: Thromboembolism is a complex disease caused by different acquired and inherited factors. The common mutations including Factor V leiden (FVL), prothrombin (PTG), and methylenetetrahydrofolate reductase (MTHFR) are important inherited causes in both venous and arterial thrombosis. OBJECTIVES: The aim of this study was to determine the frequency of the common three thrombophilia mutations in a group of patients with unstimulated thrombosis in comparison to healthy controls. PATIENTS AND METHODS: This is a prospective case-control study of mutations in 100 samples, 50 patients with documented thrombosis referred to the Sulaymaniyah Public Health Laboratory for thrombophilia screening, as well as other 50 healthy age-matched controls. Multiplex polymerase chain reaction and reverse hybridization to oligonucleotide-specific probes, was used to detect FVL G1691A, PTG20210A, and MTHFRC677T mutations. Assays for other thrombophilia markers (Protein C, Protein S, and Antithrombin) were also performed. RESULTS: FVL was found in 22% of patients versus 6% of controls and associated with a 4-fold increased risk of thrombosis OR: 4.41, P = 0.021. MTHFR and PTG were found in 42% and 4%, respectively among patients with no significant increased risk. Mutations with more than one thrombophilia markers further increased the risk of thrombosis to 5-fold P = 0.025. Deep-vein thrombosis was the most common form of thrombosis and it is more in a young age group. CONCLUSIONS: FVL is significantly related to the risk of thrombosis development and presence of other thrombophilia markers further increase thrombotic risk, so understanding these facts may encourage screening those patients and may help proper management.

Keywords

• factor v leiden
• methylenetetrahydrofolate reductase
• polymorphisms
• thrombophilia