Document Detail

Occurrence of the JAK2 V617F mutation in the Budd-Chiari syndrome.
MedLine Citation:
PMID:  18600100     Owner:  NLM     Status:  MEDLINE    
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.
Donatella Colaizzo; Lucio Amitrano; Giovanni L Tiscia; Luigi Iannaccone; Anna Gallone; Elvira Grandone; Maria A Guardascione; Maurizio Margaglione
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis     Volume:  19     ISSN:  0957-5235     ISO Abbreviation:  Blood Coagul. Fibrinolysis     Publication Date:  2008 Jul 
Date Detail:
Created Date:  2008-07-07     Completed Date:  2009-08-18     Revised Date:  2012-06-05    
Medline Journal Info:
Nlm Unique ID:  9102551     Medline TA:  Blood Coagul Fibrinolysis     Country:  England    
Other Details:
Languages:  eng     Pagination:  459-62     Citation Subset:  IM    
aAtherosclerosis and Thrombosis, Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Italy.
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MeSH Terms
Budd-Chiari Syndrome / complications,  enzymology,  genetics*
Follow-Up Studies
Janus Kinase 2 / genetics*,  metabolism
Middle Aged
Mutation, Missense*
Myeloproliferative Disorders / enzymology,  etiology,  genetics*
Risk Factors
Reg. No./Substance:
EC Kinase 2; EC protein, human

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