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Blood, 15 May 2007, Vol. 109, No. 10, pp. 4258-4263. Prepublished online as a Blood First Edition Paper on January 23, 2007; DOI 10.1182/blood-2006-08-040774. This Article Full Text Full Text (PDF) All Versions of this Article: blood-2006-08-040774v1 109/10/4258    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Corral, J. Articles by Vicente, V. Search for Related Content PubMed PubMed Citation Articles by Corral, J. Articles by Vicente, V. Related Collections Hemostasis, Thrombosis, and Vascular Biology Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  HEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY Antithrombin Cambridge II (A384S): an underestimated genetic risk factor for venous thrombosis Javier Corral1, David Hernandez-Espinosa1, Jose Manual Soria2, Rocio Gonzalez-Conejero1, Adriana Ordonez1, Jose Ramon Gonzalez-Porras3, Elena Perez-Ceballos1, Ramon Lecumberri4, Ignacio Sanchez1, Vanessa Roldan1, Jose Mateo2, Antonia Minano1, Marcos Gonzalez3, Ignacio Alberca3, Jordi Fontcuberta2, and Vicente Vicente1 1 Centro Regional de Hemodonación, Universidad de Murcia, Murcia, Spain; 2 Unitat d'Hemostasia i Trombosi, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; 3 Hematology Service, Hospital Clínico Universitario, Salamanca, Spain; 4 Hematology Service, Clínica Universitaria de Navarra, Pamplona, Spain The antithrombin A384S mutation has a relatively high frequency in the British population but has not been identified in other populations. This variant has been associated with cases of thrombotic disease, but its clinical relevance in venous thrombosis remained unclear. We have conducted a secondary analysis of the prevalence of the mutation in a large case-control study, including 1018 consecutive Spanish patients with venous thromboembolism. In addition, we evaluated its functional consequences in 20 carriers (4 homozygous). This mutation, even in the homozygous state, did not affect anti-Xa activity or antigen levels, and it only slightly impaired anti-IIa activity. Thus, routine clinical methods cannot detect this anomaly, and, accordingly, this alteration could have been underestimated. We identified this mutation in 0.2% of Spanish controls. Among patients, this variant represented the first cause of antithrombin anomalies. Indeed, 1.7% patients carried the A384S mutation, but 0.6% had any other antithrombin deficiency. The mutated allele was associated with an increased risk of venous thrombosis with an adjusted OR of 9.75 (95% CI, 2.2-42.5). This is the first study supporting that antithrombin A384S mutation is a prevalent genetic risk factor for venous thrombosis and is the most frequent cause of antithrombin deficiency in white populations. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: V. Picard, I. Presot, P.-Y. Scarabin, M. Aiach, J. Emmerich, and M. Alhenc-Gelas Antithrombin Cambridge II (A384S): prevalence in patients of the Paris Thrombosis Study (PATHROS) Blood, October 1, 2007; 110(7): 2777 - 2778. [Full Text] [PDF]

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