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Semin Thromb Hemost 2009; 35(3): 307-312
DOI: 10.1055/s-0029-1222609
© Thieme Medical Publishers

Interpatient Phenotypic Inconsistency in Severe Congenital Hemophilia: A Systematic Review of the Role of Inherited Thrombophilia

Massimo Franchini1 , Martina Montagnana2 , Giovanni Targher3 , Dino Veneri4 , Marco Zaffanello5 , Gian Luca Salvagno2 , Franco Manzato6 , Giuseppe Lippi2
  • 1Department of Pathology and Laboratory Medicine, Immunohematology and Transfusion Center, University Hospital of Parma, Parma, Italy
  • 2Department of Biomedical and Morphological Sciences, Section of Clinical Chemistry, University of Verona, Verona, Italy
  • 3Department of Biomedical and Surgical Sciences, Section of Endocrinology, University of Verona, Verona, Italy
  • 4Department of Clinical and Experimental Medicine, Section of Hematology, University of Verona, Verona, Italy
  • 5Department of Mother-Child and Biology-Genetics, University of Verona, Verona, Italy
  • 6Laboratory of Clinical Chemistry, Carlo Poma Hospital of Mantova, Mantova, Italy
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Publication History

Publication Date:
18 May 2009 (online)

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ABSTRACT

It is well known that the clinical phenotype of hemophilia may vary greatly among patients with the same apparent level of coagulation factor and the same genetic mutation. Thus, patients with severe hemophilia may experience a severe phenotype or only a milder bleeding tendency, suggesting some other moderating influence. To elucidate the mechanism of this heterogeneity, some investigators have recently suggested that inherited thrombophilic factors may play a role in the milder clinical presentation of severe hemophilia. In this review, we summarize current knowledge with respect to the modulation of the clinical phenotype of severe hemophilia by prothrombotic genetic risk factors. Although the published literature seems to indicate a protective effect for the coinheritance of factor V Leiden, the limited data available do not permit any firm conclusions. Further trials on a large population of patients are needed to establish the role of genetic thrombophilia in the phenotypic expression of severe hemophilia.

KEYWORDS

Severe hemophilia - inherited thrombophilia - bleeding - thrombosis

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Massimo FranchiniM.D. 

Immunohematology and Transfusion Center, Department of Pathology and Laboratory Medicine

University Hospital of Parma, Via Gramsci, 14, Parma, 37124, Italy

Email: massimo.franchini@azosp.vr.it