Overview

The haemostatic system has evolved to meet two conflicting physiological requirements: that blood should flow freely reaching all tissues and that at the site of any leakage, fluid blood must rapidly form a plug to stem out-flow into tissue or to the exterior of the body. This is achieved by a complex, multipathway, interactive system and although the nature of some of the mechanisms of haemostasis are still debated, the coagulation proteins are now fully defined. This work collates and summarizes the current knowledge of the structure and function of the genes and proteins involved in blood coagulation and/or its regulation. The vast, rapidly growing and scattered literature on blood coagulation has been comprehensively analyzed by the authors who present in this book critical reviews (supported by concise tables) 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. There follow 31 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 haemophilia or thrombophilia.

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9780192616616

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