Genetics of Bleeding Disorders in Women

Enrico M. Novelli; Margaret V. Ragni

doi:10.1055/s-0028-1103362

Seminars in Thrombosis and Hemostasis, Table of Contents

Semin Thromb Hemost 2008; 34(6): 509-519
DOI: 10.1055/s-0028-1103362

Genetics of Bleeding Disorders in Women

Enrico M. Novelli¹ , Margaret V. Ragni¹

¹Department of Medicine, Division of Hematology and Oncology, University of Pittsburgh School of Medicine, and The Hemophilia Center of Western Pennsylvania, Pittsburgh, Pennsylvania

Abstract

ABSTRACT

With the strides being made in the European, Canadian, and American prospective studies of von Willebrand disease (VWD) genotype and phenotype, genetics is increasingly playing a key role in the classification, understanding, and management of VWD. It is anticipated that as gene sequencing becomes easier and more commonplace and the relationship between genotype and clinical and laboratory phenotype becomes clearer, genetic analysis will assume an increasingly important role in diagnosis, prediction of clinical severity, response to hemostatic agents, and optimal individualized management. This is an evolving field, so the reader is urged to stay tuned as new information becomes available, as it will likely change how individuals with bleeding disorders are managed. The purpose of this article is to review the genetics of inherited bleeding disorders in women, focusing on bleeding manifestations, diagnostic methodologies, and management.

KEYWORDS

Bleeding disorders - VWD - genetic testing - genotype - menorrhagia - bleeding severity score

Full Text

References

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Margaret V RagniM.D. M.P.H.

Professor of Medicine, Department of Medicine, Division Hematology/Oncology, University of Pittsburgh School of Medicine, Director

Hemophilia Center of Western PA, 3636 Boulevard of the Allies, Pittsburgh, PA 15213-4306

Email: ragni@dom.pitt.edu