The Molecular Genetics of Haemostasis and Its Inherited Disorders

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.