Occurrence of the JAK2 V617F mutation in the Buddg-Chiari syndrome

Donatella Colaizzo, Lucio Amitrano, Giovanni L. Tiscia, Luigi Iannaccone, Anna Gallone, Elvira Grandone, Maria A. Guardascione, Maurizio Margaglione

Research output: Contribution to journalArticlepeer-review


Myeloproliferative diseases represent a major risk factor for Buddg-Chiari syndrome. In 32 patients with Buddg-Chiari syndrome, the JAK2 V617F mutation was detected, in heterozygous state, in 11 individuals (34.4%; 95% confidence interval: 18.6g-53.2). Eight patients with (72.7%; 95% confidence interval: 39.0g-94.0) and six without (28.6%; 95% confidence interval: 11.3g-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 Buddg-Chiari syndrome with or at risk for the subsequent development of overt myeloproliferative diseases.

Original languageEnglish
Pages (from-to)459-462
Number of pages4
JournalBlood Coagulation and Fibrinolysis
Issue number5
Publication statusPublished - Jul 2008


  • AK2 V617F mutation
  • BuddChiari syndrome
  • Myeloproliferative disease
  • Thrombosis

ASJC Scopus subject areas

  • Hematology


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