title: JAK2 mutation status, hemostatic risk factors and thrombophilic factors in essential thrombocythemia (ET) patients.
abstract: The recently discovered JAK2 V617F point mutation, found in 50-60% of ET patients, has been reported to be associated with a higher risk of thrombotic events. In this study, we explored if JAK2 V617F mutation, or coexisting thrombophilic and hemostatic risk factors, contributed to these complications. We examined 32 patients with ET, and looked for pathogenetic JAK2 V617F mutation and prothrombotic genes mutations: factor V Leiden, prothrombin and MTHFR. We also evaluated plasma levels of fibrinogen, factors VIII and XII, AT, protein C, protein S and serum level of homocysteine. Urokinase concentration was assessed in patients' plasma as well as platelet lysates. There was no difference in the number of thrombotic complications between ET patients with and without JAK2 mutation. However, we found a number of thrombophilic and hemostatic risk factors that could contribute to thrombotic complications in ET patients.
authors: Department of Hematology, Medical University of Lublin, Poland. besokolowska@o2.pl
authors: Bożena
authors: B
authors: Sokołowska
authors: Aleksandra
authors: A
authors: Nowaczyńska
authors: Ksenia
authors: K
authors: Bykowska
authors: Sylwia
authors: S
authors: Chocholska
authors: Katarzyna
authors: K
authors: Wejksza
authors: Adam
authors: A
authors: Walter-Croneck
authors: Tomasz
authors: T
authors: Gromek
authors: Anna M
authors: AM
authors: Kowalska
authors: Martyna
authors: M
authors: Kandefer-Szerszeń
authors: Anna
authors: A
authors: Dmoszyńska
mesh_terms: D001779:Blood Coagulation Factors; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D006470:Hemorrhage / Q000150:complications / Q000201:enzymology / Q000235:genetics; D006487:Hemostasis / Q000235:genetics*; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics*; D012307:Risk Factors; D013920:Thrombocythemia, Essential / Q000150:complications* / Q000201:enzymology* / Q000235:genetics; D019851:Thrombophilia / Q000150:complications* / Q000201:enzymology* / Q000235:genetics
chemical_list: D001779:Blood Coagulation Factors; C507924:JAK2 protein, human; D053614:Janus Kinase 2