Thrombophilic Mutations in Iranian Patients With Thrombophilia

Abstract

Objectives To investigate the frequency and type of Factor V Leiden (FVL), prothrombin, and methylenetetrahydrofolate reductase (MTHFR) mutations in ethnic Iranian patients and to evaluate the correlation between platelet count and thrombotic mutations. Methods This descriptive epidemiologic case study was performed with 208 patients with thrombotic disorders and hemorrhaging who were referred to Payvand Medical and Specialty Laboratory in Tehran, Iran, from 2007 through 2010. Peripheral blood samples from patients with abnormal thrombosis were analyzed for FVL, prothrombin G20210A, and MTHFR (A1298C and C677T) mutations, respectively. Mutation analysis was accomplished by polymerase chain reaction (PCR)–reverse dot blot. Platelet counts were obtained by automated cell count. Results Thrombophilic mutations were observed in 105 cases of 208 patients, including 13 patients with FVL, 51 patients with MTHFR C677T mutation, 33 patients with MTHFR A1298C mutation, and 8 patients with prothrombin G20210A mutation. Eighteen patients showed 2 simultaneous mutations and 3 patients showed 3 simultaneous mutations. According to our results, platelet counts were in normal range, so no statistically significant difference was observed between platelet count and mutation type. Conclusions The frequency of MTHFR C677T mutation is higher than that of FVL and/or prothrombin 20210A mutations in ethnic Iranian patients with thrombophilia. Also, thrombophilic mutations were not observed to have any effect on platelet count in patients with thrombophilia. Regarding the high prevalence of MTHFR C677T mutation in our region, family members of any patient with the MTHFR C677T mutation should be screened to identify this genetic mutation. * Abbreviations : FVL : Factor V Leiden APC : activated protein C MTHFR : methylene-tetrahydrofolate reductase EDTA : ethylenediaminetetraacetic acid PCR : polymerase chain reaction SSOP : sequence-specific oligonucleotide probes BCIP : 5-bromo-4-chloro-3-indolyl phosphate NBT : nitro blue tetrazolium PT : partial thrombosis PLT : platelet RFLP : restriction fragment length polymorphism BP : base pair