Fatemeh Keify - Pardis Clinical and Genetics Laboratory, Mashhad, Iran.
Mohsen Azimi-Nezhad - Pardis Clinical and Genetics Laboratory, Mashhad, Iran - Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran - Université de Lorraine, Unité de Recherche “Interactions Gène-Environnement en Physiopatho
Narges Zhiyan-abed - Pardis Clinical and Genetics Laboratory, Mashhad, Iran - Razavi’s Social Welfare Organization, Mashhad, Iran.
Mojila Nasseri - Pardis Clinical and Genetics Laboratory, Mashhad, Iran.
Mohammad Reza Abbaszadegan - Pardis Clinical and Genetics Laboratory, Mashhad, Iran - Division of Human Genetics, Immunology Research Center, Avicenna Research Institute, MUMS, Mashhad, Iran.

Background: Thrombophilia is a main predisposition to thrombosis due to a procoagulant state. Several point mutations play key roles in blood-clotting disorders, which are grouped under the term thrombophilia. These thrombophilic mutations are methylenetetrahydrofolate reductase (MTHFR, C۶۷۷T, and A۱۲۹۸C), factor V Leiden (G۱۶۹۱A), prothrombin gene mutation (factor II, G۲۰۲۱۰A), and plasminogen activator inhibitor (PAI). In the present study, we assessed the prevalence of the above thrombophilia markers in patients with recurrent pregnancy loss or first and second trimester abortions, infertility, and failed in vitro fertilization (IVF). Methods: This study was conducted among ۴۵۷ cases those were referred to detect the inherited genetic markers for thrombophilia. Markers for MTHFR, Factor II, and Factor V were assessed by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP), and PAI was assessed by Amplification Refractory Mutation System (ARMS-PCR). Results: Two hundred sixty cases (۵۶.۸۹%) were diagnosed as having at least one thrombophilia marker, whereas ۱۹۷ cases (۴۳.۱۱%) had no thrombophilia markers and were normal. Conclusion: According to the current study, the pattern of abnormal genetic markers for thrombophilia in northeastern Iran demonstrates the importance of genetic evaluations in patients who show clinical abnormalities with recurrent spontaneous abortion (RSA) or other serious obstetric complications.

Factor II, Factor V, Thrombophilia, MTHFR, PAI, Thrombophilic markers