Objectives: Arterial and venous thrombotic events are more commonly observed in patients with myeloproliferative diseases (MPDs). Arterial and venous thromboses are significant causes of mortality and morbidity in Philadelphia (Ph) chromosome-negative MPDs. The present study investigates the presence of the JAK2V617F mutation, which contributes to the early diagnosis of MPD, in patients with ischemic heart disease with a normal coronary angiography and in those with a venous thrombosis in an atypical location. The goal in this regard is to determine the contribution of the JAK2V617F mutation to the development of thrombosis in Philadelphia chromosome-negative MPDs, and to identify possible relationships between the JAK2 mutation and other clinical and laboratory characteristics. Methods: The study was conducted in the Division of Hematology of the Department of Internal Medicine in the Trakya University Faculty of Medicine between March 2008 and August 2009. Approval for the study was granted by the Ethics Committee of the Trakya University Faculty of Medicine on February 21, 2008, and the study was supported by the Trakya University Scientific Research Projects Fund. A total of 87 subjects were included in the study. The JAK2V617F mutation was analyzed using a real-time PCR device and with a melting curve analysis. The demographic and medical data of the patients was retrieved from the medical charts. The statistical analysis was performed using SPSS 13.0 data analysis software. Results: The study included 31 patients diagnosed with myeloproliferative disease, 32 patients with ischemic heart disease with a normal coronary angiography and four patients with a venous thrombosis in an atypical location, as well as 20 healthy volunteers included in the control group. The JAK2V617F mutation was identified in 24 patients (77.4%) with myeloproliferative disease, in one patient (3.1%) with cardiovascular disease and in two patients (50%) with a venous thromboembolism in an atypical location. No JAK2V617F mutation was found in the healthy control group. There was no difference between myeloproliferative disease subgroups in terms of history of thrombosis. No significant relationship was found between the presence of the JAK2V617F mutation, history of thrombosis and leukocyte count, or between leukocyte count and history of thrombosis (p=0.183, p=0.345, p=0.368, respectively). Conclusion: The identification of the JAK2V617F mutation in three patients with thrombosis with no diagnosis of myeloproliferative disease suggests that the detection of this mutation in patients with a venous thromboembolism in an atypical location and in some patients with an arterial thrombosis may contribute to the early recognition of patients with myeloproliferative disease, and may give these patients the chance to begin the appropriate therapy. The rate of a history of thrombosis was higher in the JAK2V617F-positive patients, although the difference did
Corresponding Author: Musri F.