منابع مشابه
Haemophilia A and haemophilia B: molecular insights.
This review focuses on selected areas that should interest both the scientist and the clinician alike: polymorphisms within the factor VIII and factor IX genes, their linkage, and their ethnic variation; a general assessment of mutations within both genes and a detailed inspection of the molecular pathology of certain mutations to illustrate the diverse cause-effect relations that exist; a summ...
متن کامل[Acquired haemophilia].
Acquired haemophilia (AH) is a severe bleeding diathesis that affects both males and females. It is caused by suddenly appearing autoantibodies that interfere with coagulation factor VIII (FVIII) activity. Although some conditions such as autoimmune diseases, cancer and puerperium seem likely to induce AH, in more than half of the observed cases autoantibodies to FVIII are idiopathic. The clini...
متن کاملDiagnostic ultrasound in haemophilia.
Ultrasound examination has been recommended for the evaluation of acute haemorrhages into soft tissues or joints in haemophilic patients. We have reviewed the notes of all such patients admitted during one calendar year and find that in 47 separate admissions the ultrasound examination assisted management decisions on 27 occasions. The technique is described with an analysis of the ways in whic...
متن کاملGene therapy for haemophilia
The ultimate goal of gene therapy is the replacement of a defective gene sequence with a corrected version to eliminate disease for the lifetime of the patient. This challenging task is not yet accomplished, however significant progress is evident. An initial spate of clinical trials attempting the treatment of haemophilia with gene transfer primarily resulted in the demonstration of good safet...
متن کاملIntracranial Haemorrhage in Haemophilia.
Intracranial bleeding has long been regarded as particularly lethal in haemophilia and is currently the most common cause of death among haemophiliacs in Finland (Ikkala, 1960), in Sweden (Blomback, 1962), and in New South Wales (Kerr, 1963). It appears that intracranial haemorrhage has not been influenced by modem therapy to the same extent as post-operative or traumatic bleeding at other site...
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ژورنال
عنوان ژورنال: Nature
سال: 2014
ISSN: 0028-0836,1476-4687
DOI: 10.1038/515s157a