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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Editorial Board Member: Gillery, Philippe / Kazmierczak, Steven / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Schlattmann, Peter / Whitfield, John B.

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Multiple gene interaction and modulation of hemostatic balance

Massimo Franchini1 / Pier Mannuccio Mannucci2

1Department of Pathology and Laboratory Medicine, Immunohematology and Transfusion Center, University Hospital of Parma, Parma, Italy

2Department of Medicine and Medical Specialties, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, University of Milan and IRCCS Maggiore Hospital, Mangiagalli and Regina Elena Foundation, Milan, Italy

Corresponding author: Massimo Franchini, Department of Pathology and Laboratory Medicine, Immunohematology and Transfusion Center, University Hospital of Parma, Italy

Citation Information: Clinical Chemistry and Laboratory Medicine. Volume 47, Issue 12, Pages 1455–1460, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: 10.1515/CCLM.2009.331, October 2009

Publication History

Published Online:


Recent progress in the understanding of the pathophysiology of hemostasis has established that blood coagulation disorders causing bleeding or thrombosis often indicate a multi-casual nature in which the interaction between genetic and acquired factors plays a major mechanistic role. The interaction of two or more factors may attenuate clinical symptoms. However, a synergic worsening may also occur, resulting in a higher risk than expected from the combination of the separate effects. The role of genetic factors on the modulation of the phenotypic expression of coagulation disorders will be addressed in this review, with particular emphasis on the underlying pathogenic mechanisms and clinical implications.

Clin Chem Lab Med 2009;47:1455–60.

Keywords: bleeding; genotype; hemostatic balance; phenotype; thrombosis

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