Background FV, MTHFR, II, and PAI-I are the most common genes associated with thrombophilia genetic variants, which vary among different populations and ethnic groups. Little is known about the prevalence and multiplicity of these variants in Jordan. The aim of this study was to estimate the prevalence and multiplicity of the FV G1691A, FV H1299R, MTHFR 1298A>C, MTHFR 677C>T, II 20210G>A, and PAI-I 675 4G/5G variants among healthy Jordanians. Methods This cross-sectional study was conducted on randomly selected healthy Jordanian participants. Non-Jordanians and those with a history of arterial/venous thrombosis, atherosclerosis, or a history of recurrent abortions were excluded from the study. PCR was used to detect variants in DNA extracted from participants' blood samples. Results A total of 300 subjects were screened: 170 (56.7%) females with an average age of 27.78±9.32 years and 130 (43.3%) males with an average age of 29.88±8.55 years. Genetic variants (at least one) were found in 75% of the subjects (81.2% among females and 66.9% among men), while 64.7%, 52%, and 12% were found to have at least two, three, and four variants, respectively. Overall, 21%, 29%, 54.3%, 27.3%, 7.7%, and 66% of participants were found to have FV G1691A, FV H1299R, MTHFR 1298A>C, MTHFR 677C>T, II 20210G>A, and PAI-I 675 4G/5G gene variants, respectively. Conclusion Three-quarters of our population had at least one of the thrombophilia genetic variants, and most had more than one variant. The most common variants detected were associated with MTHFR, followed by PAI-I, FV, and then II. We observed that females had higher prevalence estimates than males. However, multiplicity among males was significantly higher than females. Our findings indicated noticeable differences in prevalence estimates compared with other populations.

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Prevalence and Multiplicity of Thrombophilia Genetic Polymorphisms of FV, MTHFR, FII, and PAI-I: A Cross-Sectional Study on a Healthy Jordanian Population.

Introduction: Venous thrombosis is a multifactor disease with high incidence in the population. The development of this disease is closely linked to the presence of environmental and genetic factors and may occur in combination or alone. Among the various genetic mutations that may predispose to a thrombotic event, the most frequent in the population is the G1691A mutation in clotting factor V, known as factor V Leiden (FVL). This mutation brings the phenotype known as activated protein C resistance, leading to a hypercoagulable state, which increases the risk of thrombosis. Objective: To investigate the presence of FVL in individuals with history of venous thrombosis, and as the control group, individuals with no history of the disease. Method: The method used was the polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP). Results: The results showed mutation prevalence of 21.5% in heterozygosity in patient group; no individuals with mutated homozygous were identified. The results also showed a high recurrence rate among the mutation carriers. Conclusion: In conclusion, the research of mutation on factor V has strong impact on investigation of venous thromboembolism, in order to elucidate the etiology of the event, and in treatment and in prophylaxis against the recurrence. Key words: polymerase chain reaction; venous thrombosis; thrombophilia.

Prevalence of factor V Leiden in patients with venous thrombosis Prevalência do fator V de Leiden em pacientes com trombose venosa

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Prevalence of factor V Leiden in patients with venous thrombosis Prevalência do fator V de Leiden em pacientes com trombose venosa