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The relationship between factor V Leiden, prothrombin G20210A, and MTHFR mutations and the first major thrombotic episode in polycythemia vera and essential thrombocythemia

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Abstract

Arterial and venous thrombosis are the most frequent complications in patients with polycythemia vera and essential thrombocythemia. We sought to demonstrate a possible contribution of the factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase (MTHFR) 677 C > T and 1298 A > C mutations to the thrombotic risk in patients with polycythemia vera and essential thrombocythemia along with other biological features of these patients. We included 86 patients with polycythemia vera, of which 34 (39.5 %) had major thrombosis and 95 patients with essential thrombocythemia, of which 22 (23.1 %) had major thrombosis. In the whole cohort of patients, only the factor V Leiden mutation was significantly associated with both arterial and venous thrombosis in univariate and multivariate analysis (odds ratio (OR) = 4.3; 95 % confidence interval (CI) = 1.5–12.5; p = 0.008 and OR = 4.3; 95 % CI = 1.2–15.9; p = 0.02, respectively). Other factors significantly associated with thrombosis in both univariate and multivariate analysis were male sex (OR = 2.8, 95 % CI = 1.4–5.4, p = 0.002 and OR = 3.5, 95 % CI = 1.6–7.6, p = 0.002, respectively) and the JAK2 V617F mutation (OR = 5.5, 95 % CI = 2.1–15, p = 0.0001 and OR = 6.9, 95 % CI = 2.2–21.2, p = 0.001, respectively). In conclusion, among the four mutations analyzed (factor V Leiden, prothrombin G20210A, and MTHFR 677 C > T and 1298 A > C), only factor V Leiden is a major contributor to thrombosis in polycythemia vera and essential thrombocythemia.

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Acknowledgment

This study was partially supported by the project: POSDRU 107/1.5/S/78702.

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The authors reported no conflict of interests.

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Authors and Affiliations

  1. Department of Medical Genetics, “Iuliu Haţieganu” University of Medicine and Pharmacy, 6 Pasteur St, 400349, Cluj-Napoca, Romania

    Adrian P. Trifa, Radu A. Popp, Camelia A. Coadă, Roxana M. Costache, Mariela S. Militaru & Ioan V. Pop

  2. Department of Hematology, “Iuliu Haţieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania

    Andrei Cucuianu

  3. Department of Hematology, “Ion Chiricuț ă” Cancer Institute, Cluj-Napoca, Romania

    Andrei Cucuianu

  4. Department of Pharmacology, “Iuliu Haţieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania

    Ştefan C. Vesa

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  1. Adrian P. Trifa
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  2. Andrei Cucuianu
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  3. Radu A. Popp
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  4. Camelia A. Coadă
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  6. Mariela S. Militaru
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Correspondence to Adrian P. Trifa.

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Authors Adrian P. Trifa and Andrei Cucuianu contributed equally to this work.

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Trifa, A.P., Cucuianu, A., Popp, R.A. et al. The relationship between factor V Leiden, prothrombin G20210A, and MTHFR mutations and the first major thrombotic episode in polycythemia vera and essential thrombocythemia. Ann Hematol 93, 203–209 (2014). https://doi.org/10.1007/s00277-013-1838-6

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  • DOI: https://doi.org/10.1007/s00277-013-1838-6

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