VWD by the difference in bleeding symptoms. VWD is caused by a deficiency in or a dysfunction of von Willebrand factor (VWF). VWF is a multimeric protein synthesised in megakaryocytes

نویسنده

  • Pieter W Kamphuisen
چکیده

Inherited bleeding disorders are rare in the general population. Nevertheless, the most common bleeding disorders, haemophilia and von Willebrand disease (VWD), occur in one in 5,000 males and 1% of the general population.1 Since fibrin formation or platelet aggregation in these patients is insufficient, prophylaxis with clotting factor concentrate or desmopressin (DDAVP) prevents severe bleeding complications in situations where optimal haemostasis is crucial, such as surgery. Most patients with either haemophilia or VWD have a relatively mild phenotype, and their disease may well become apparent only after abnormal bleeding postoperatively. In addition, many patients may not be aware of having a bleeding abnormality, since relatives may have the same symptoms. Therefore, it is of the utmost importance to identify patients with underlying bleeding disorders before they undergo surgery. In particular, dentists, gynaecologists and paediatricians should investigate patients for potential bleeding abnormalities.

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Background and purpose: Von Willebrand Disease (VWD) type 1, is the most common inherited bleeding disorder caused by defect in Von Willebrand Factor (VWF) gene with 178000 nucleotide length. Different methods are available to detect unknown mutations in a genetic study. The fluorescent conformation sensitive gel electrophoresis (F-CSGE) was designed for the VWF gene by using fluorescent dyes...

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تاریخ انتشار 2013