- 1.7k Downloads
Reduced to its simplest form, the vascular system is a series of interconnected biologic conduits filled with fluid moving under pressure. This system is subject to injury and must repair itself in order to avoid exsanguination. This latter function is provided by the hemostatic system. Thus, normal hemostasis is a reparative process and consists of three major mechanisms: (1) vasospasm, which is the main mechanism for controlling bleeding after transection/avulsion injuries of large arteries, arterioles, and veins; (2) platelet plug formation; and (3) the procoagulant system. The procoagulant system consists of the mechanisms by which fluid blood is converted into an insoluble hemostatic thrombus. While inherited or acquired disorders of all three mechanisms can cause clinically abnormal bleeding, this chapter reviews the molecular basis of inherited disorders of the procoagulant system (e. g., hemophilia A and B, von Willebrand disease). Inherited vascular and platelet disorders associated with abnormal bleeding are not discussed here.
KeywordsFactor Versus Polymerase Chain Reac Factor Viii Gene Single Base Pair Change Ristocetin Cofactor Activity
Unable to display preview. Download preview PDF.
- 2.Antonatakis SE, et al. Factor VIII gene inversions in severe hemophilia A: results of an International Consortium Study. Blood. 1995;86:2206.Google Scholar
- 6.GeneTests: Medical Genetics Information Resource [database online]. Seattle, wA: University of Washington and Children’s Health System, 1993–2003. Updated weekly. available at: http://www.genetests.org.Google Scholar
- 14.Sadler JE. Von Willebrand disease. In: Scriver CR, Beaudet AL, Valle D, et al., eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill, 2001.Google Scholar
- 16.Mazurier C, Meyer D. Factor VIII binding assay of von Willebrand factor and the diagnosis of type 2N von Willebrand disease-results of an international survey. On behalf of the Subcommittee on Von Willebrand Factor of the Scientific and Standardization Committee of the ISTH. Thromb Haemost. 1996;76:270.PubMedGoogle Scholar
- 25.Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood. 19;88:3698–3703.Google Scholar