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Thromb Haemost 2015; 114(05): 885-889
DOI: 10.1160/TH15-02-0141
Theme Issue Article
Schattauer GmbH

Classic thrombophilic gene variants

Pier Mannuccio Mannucci
1   A. Bianchi Bonomi Hemophilia and Thrombosis Center, IRCCS Ca' Granda Maggiore Policlinico Hospital Foundation, Milan, Italy
,
Massimo Franchini
2   Department of Transfusion Medicine and Hematology, Carlo Poma Hospital, Mantova, Italy
› Author Affiliations
Further Information

Publication History

Received: 13 February 2015

Accepted after minor revision: 26 April 2015

Publication Date:
06 December 2017 (online)

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Summary

Thrombophilia is defined as a condition predisposing to the development of venous thromboembolism (VTE) on the basis of a hypercoagu-lable state. Over the past decades, great advances in the pathogenesis of VTE have been made and nowadays it is well established that a thrombophilic state may be associated with acquired and/or inherited factors. The rare loss-of-function mutations of the genes encoding natural anticoagulant proteins (i. e. protein C, protein S and antithrombin) and the more common gain-of-function polymorphisms factor V Leiden and prothrombin G20210A are the main genetic determinants of thrombophilia. In addition, non-O blood group has been consistently demonstrated to be the most frequent inherited marker of an increased risk of VTE. The mechanism role of these inherited thrombophilia markers will be discussed in this narrative review.

Keywords

Inherited thrombophilia - natural anticoagulants - factor V Leiden - prothrombin mutation - ABO blood group
 

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