Frequency of Triple Mutations Involving Factor V, Prothrombin, and Methylenetetrahydrofolate Reductase Genes Among Patients Referred for Molecular Thrombophilia Workup in a Tertiary Care Center in Lebanon

摘要

Molecular diagnostics has markedly improved the diagnosis and workup of different clinical conditions including hypercoagulable state or thrombophilia where different genes are involved. In this report, which is the largest report in the medical literature and the first in Lebanon, we describe the prevalence of simultaneous mutations in the three major thrombophilia genes Factor Ⅴ, Factor Ⅱ, and methylenetetrahydrofolate reductase. Materials and Methods: Using a polymerase chain reaction and reverse hybridization assay for the corresponding mutations identification, 2248 referred cases were analyzed. Results: Only 25 cases were found to be simultaneously positive for the three mutations at a prevalence rate of 1.1%. Conclusion: Compared with other populations, this prevalence rate is considered high, possibly the highest, and warrants future clinical studies and follow-up.