The Molecualr Genetics of Haemostasis and its Inherited Disorders

Abstract

The complex process of hemostasis, encompassing both coagulation and fibrinolysis, involves at least 30 proteins. Mutations affecting the expression of the genes as proteins result in several important diseases, including hemophilia and Von Willebrand disease. This text present a comprehensive, highly detailed review of genetic disorders of hemostasis. It is intended that the user be able to predict the disorder resulting from each mutation, and that this genetic information be used to manage and prevent such disorders. The bulk of the chapters focus on specific enzymes, cofactors, inhibitors, and other expression products. Some of these are factors V-XIII, prothrombin, tissue factor, fibrinogen, plasminogen, and platelet membrane proteins. Appendices discuss phenotype analysis, methodology of mutation detection, and the epidemiology of coagulation disorders. The text is illustrated, lists over 2,800 references, and closes with an index.