The Molecular Genetics of Haemostasis and Its Inherited Disorders

by Tuddenham, Edward G. D.; Cooper, David N.

• ISBN13: 9780192616616
• ISBN10: 0192616617
• Format: Hardcover
• Copyright: 1994-03-03
• Publisher: Oxford University Press

Summary

This work uniquely collates and summarizes our current knowledge of the structure and function of the genes and proteins involved in blood coagulation and/or its regulation. For the first time, the vast, rapidly growing and scattered literature has been comprehensively analyzed. The book presents critical reviews covering the entire field of the hereditary disorders of haemostasis and thrombosis. An introductory chapter outlines the most recent theories of blood coagulation and the state-of-the-art of the analysis of human gene mutation, followed by 32 chapters, each devoted to a single gene or small group of genes and their corresponding disorders. As well as detailing each gene's structure, chromosomal location and regulation, the authors provide concise but comprehensive summaries of each protein product and of the deficiency disorders associated therewith, whether leading to hemophilia or thrombophilia. Appendices contain essential practical information on genotype and phenotype analysis and on the epidemiology of the disorders of blood coagulation. This is an invaluable text for clinicians and laboratory scientists who want to unravel the molecular basis of inherited disease, presented with a patient with either a bleeding or thrombotic disorder.

Table of Contents

Introduction	p. 1
Factor VIII and haemophilia A	p. 19
Factor IX and haemophilia B	p. 78
Factor VII	p. 112
Factor X	p. 122
Prothrombin	p. 134
Protein C and protein C inhibitor	p. 149
Protein S, C4b-binding protein, and protein Z	p. 164
Thrombomodulin	p. 175
Factor V	p. 182
Tissue factor	p. 194
Tissue factor pathway inhibitor	p. 204
Factor XI	p. 212
Factor XII	p. 221
High-molecular-weight kininogen	p. 231
Plasma pre-kallikrein	p. 242
Fibrinogen	p. 248
Factor XIII	p. 271
Antithrombin III	p. 284
Heparin cofactor II	p. 299
C1 inhibitor	p. 305
Histidine-rich glycoprotein	p. 310
Placental anticoagulant proteins	p. 313
Plasminogen	p. 316
Tissue plasminogen activator	p. 326
Plasminogen activator inhibitor-1	p. 338
Plasminogen activator inhibitor-2	p. 352
Urokinase and its receptor	p. 359
[actual symbol not reproducible]-Antiplasmin	p. 365
The von Willebrand factor and von Willebrand disease	p. 374
Platelet membrane proteins	p. 402
Platelet-secreted proteins	p. 421
Thrombospondin	p. 425
Appendix 1 Phenotype analysis	p. 433
Appendix 2 The methodology of mutation detection	p. 443
Appendix 3 Epidemiology of coagulation disorders	p. 446
References	p. 458
Index	p. 567
Table of Contents provided by Blackwell. All Rights Reserved.