Genetics of bleeding disorders in women.
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.
Novelli
Enrico M
EM
Department of Medicine, Division of Hematology and Oncology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Ragni
Margaret V
MV
D001778:Blood Coagulation Disorders / Q000175:diagnosis / Q000235:genetics*; D001779:Blood Coagulation Factors / Q000235:genetics*; D001791:Blood Platelet Disorders / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D003937:Diagnosis, Differential; D004535:Ehlers-Danlos Syndrome / Q000235:genetics; D005260:Female; D006470:Hemorrhage / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics; D017713:Platelet Transfusion; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000235:genetics; D014842:von Willebrand Diseases / Q000145:classification / Q000175:diagnosis / Q000235:genetics*
D001779:Blood Coagulation Factors