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Carrier Testing Home KSU Faculty Member 血友病携带者检测家居堪萨斯州立大学教员课件
An Introduction to Haemophilia and related bleeding disorders NORMAL CLOTTING CLOTTING CASCADE WHAT IS HAEMOPHILIA ? HAEMOPHILIA Haemophilia A and B Haemophilia A and B DISEASE SEVERITY Degrees of Severity Thigh muscle bleed HISTORY OF HAEMOPHILIA TREATMENT SURGERY AND HAEMOPHILIA Treatment of bleeds Haemophilia Inheritance FVIII and FIX only Father with Haemophilia Carrier Mother (one normal gene and one defective gene) Spontaneous Mutation INHIBITORS Assessment of bleeding disorder Assessment von Willebrand’s Disease vWD Family of bleeding disorders Caused by a deficiency or an abnormality of von Willebrand Factor vWF VWF gene : short arm of chromosome 12 VWF gene is expressed in endothelial cells and megakaryocytes vWF is produced as a propeptide which is extensively modified to produce mature vWF Two vWF monomers bind through disulfide bonds to form dimers Multiple dimers combine to form vWF multimers vWF Production Vascular endothelial cells Megakaryocytes Most vWF is secreted Some vWF is stored Weibel-Palade bodies in endothelial cells Alpha granules of platelets Constitutive and stimulus-induced pathways Release stimuli (EC) Thrombin Histamine Fibrin C5b-9 (complement membrane attack complex) Release stimuli (platelets) Thrombin ADP Collagen vWF Function Adhesion Mediates the adhesion of platelets to sites of vascular injury (subendothelium) Links exposed collagen to platelets Mediates platelet to platelet interaction Binds GPIb and GPIIb-IIIa on activated platelets Stabilizes the hemostatic plug against shear forces vW Factor Functions in Hemostasis Carrier protein for Factor VIII (FVIII) Protects FVIII from proteolytic degradation Localizes FVIII to the site of vascular injury Hemophilia A: absence of FVIII Frequency Most frequent inherited bleeding disorder Estimated that 1% of the population has vWD Very wide range of clinical manifestations Clinically significant vWD : 125 persons per million population Severe disease is found in approximately 0.5
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