| Title | Occurrence of the JAK2 V617F mutation in the Budd-Chiari syndrome. | | Author(s) | Colaizzo D, Amitrano L, Tiscia GL, Iannaccone L, Gallone A, Grandone E, Guardascione MA, Margaglione M | | Institution | aAtherosclerosis and Thrombosis, I.R.C.C.S. 'Casa Sollievo della Sofferenza', S. Giovanni Rotondo, Italy bDivision of Hematology, Coagulazion Unit, Italy cDivision of Gastroenterology, 'A. Cardarelli' Hospital, Italy dNapoli, Applied Biology, Italy eMedical Genetics, Department of Biomedical Sciences, University of Foggia, Foggia, Italy. | | Source | Blood Coagul Fibrinolysis 2008 Jul; 19(5):459-462. | | Abstract | Myeloproliferative diseases represent a major risk factor for Budd-Chiari syndrome. In 32 patients with Budd-Chiari syndrome, the JAK2 V617F mutation was detected, in heterozygous state, in 11 individuals (34.4%; 95% confidence interval: 18.6-53.2). Eight patients with (72.7%; 95% confidence interval: 39.0-94.0) and six without (28.6%; 95% confidence interval: 11.3-52.2) the JAK2 V617F mutation had a diagnosis of myeloproliferative diseases before or at the occurrence of the venous thrombotic event. In three patients carrying the JAK2 V617F mutation, a myeloproliferative disease was not detected. Determination of the JAK2 V617F mutation may be useful to recognize patients with Budd-Chiari syndrome with or at risk for the subsequent development of overt myeloproliferative diseases. | | Language | ENG | | Pub Type(s) | JOURNAL ARTICLE
| | PubMed ID | 18600100 |
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