The molecular analysis of haemophilia A: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network
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چکیده
منابع مشابه
The molecular analysis of haemophilia B: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network.
Haemophilia B is one of the most common inherited bleeding disorders and has a well understood pathophysiology. Our understanding of the molecular genetics of the disease has allowed the development of comprehensive carrier and prenatal diagnosis for this single gene disorder. Continuing technological developments improve our ability to provide genetic analysis in a rapid and cost-effective man...
متن کاملThe molecular analysis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organisation Haemophilia Genetics Laboratory Network.
von Willebrand disease (VWD) is a common autosomally inherited bleeding disorder associated with mucosal or trauma-related bleeding in affected individuals. VWD results from a quantitative or qualitative deficiency of von Willebrand factor (VWF), a glycoprotein that is essential for primary haemostasis and that carries and protects coagulation factor VIII (FVIII) in the circulation. Through cha...
متن کاملThe diagnosis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organization.
von Willebrand disease (VWD) is the commonest inherited bleeding disorder. However, despite an increasing understanding of the pathophysiology of VWD, the diagnosis of VWD is frequently difficult because of uncertainty regarding the relationship between laboratory assays and function in vivo. The objective of this guideline is to provide contemporary advice on a rational approach to the diagnos...
متن کاملManagement of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organization.
von Willebrand disease (VWD) is the commonest inherited bleeding disorder. The aim of therapy for VWD is to correct the two defects of haemostasis in this disorder, impaired primary haemostasis because of defective platelet adhesion and aggregation and impaired coagulation as a result of low levels of factor VIII. The objective of this guideline is to inform individuals making choices about the...
متن کاملThe impact of HIV on mortality rates in the complete UK haemophilia population UK Haemophilia Centre Doctors' Organisation
Results: During 1977-'1984 annual mortality in severely haemophilic males was 0.9%. For those with HIV, annual mortality increased progressively from 1985 reaching over 10% during 1993-1996 before falling to 5'10 in '1997-1999, whereas without HIV it remained approximately 0.9'7'0 throughoutI9B5-1999. For moderately/mildly haemophilic males the annual mortality was 0.4% during 1977-1984. Withou...
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ژورنال
عنوان ژورنال: Haemophilia
سال: 2005
ISSN: 1351-8216,1365-2516
DOI: 10.1111/j.1365-2516.2005.01111.x