Haemophilia B
نویسندگان
چکیده
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 کاملHaemophilia B (Factor IX Deficiency)
If a woman is a carrier there is a 1 in 2 chance that any son will be affected and a 1 in 2 chance that any daughter will be a carrier. If a man with the disease fathers a child, any daughter will be a carrier and any son will be unaffected and will not carry the gene. There is a report of a daughter of a man with the disease who had a factor IX level of 5% and haemarthroses and this was though...
متن کاملProgress towards gene therapy for haemophilia B.
Haemophilia B is an X-linked recessive bleeding disorder, arising from a deficiency of coagulation factor IX. It has been a target for gene therapy ever since the factor IX gene was cloned in 1982. Several distinct approaches have been evaluated in humans over the last 30 years, but none has resulted in tangible corrections of the bleeding phenotype in humans until recently. Our group has now s...
متن کاملHaemodialysis in a patient with haemophilia B.
phils; 0% eosinophils), haemoglobin 11.0 g/dl and platelets 202 000/mm. Blood glucose was 222mg/dl, sodium 143mEq/l, potassium 3.8mEq/l, calcium 9.6mg/l, albumin 3.4 g/dl, uric acid 6.6mg/dl, amylase 75U/L, lipase 65U/L, alanine aminotransferase (ALT) 30U/l, aspartate aminotransferase (AST) 46U/l, creatinine kinase-MB (CK-MB) 10.9U/l, troponin-I 0.13 ng/ml, C-reactive protein quantative 0.2mg/d...
متن کاملThe 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...
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ژورنال
عنوان ژورنال: JMS SKIMS
سال: 2016
ISSN: 0972-110X,0972-110X
DOI: 10.33883/jms.v19i1.280