Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0684275 (haemophilia)
 10,958 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Blood levels of ascorbic acid, vitamin A, folic acid, and amino acids were studied in patients at the South Texas Comprehensive Hemophilia Center, San Antonio, TX. The mean plasma ascorbic acid level in hemophiliacs was significantly lower than controls (p less than 0.0001). This was observed despite a dietary ascorbic acid intake in excess of 66% of the Recommended Dietary Allowances (RDA). However, those subjects receiving specific factor replacement therapy at home and consuming at least 66% RDA of ascorbic acid maintained a mean plasma ascorbic acid level not significantly less than controls. Hemophilic subjects not on home therapy, on the other hand, had a mean plasma ascorbic acid level significantly below that of controls while receiving optimal dietary ascorbic acid. With prompt adequate medical care of bleeding episodes and with optimal nutrition, the demand for ascorbic acid needed for tissue repair in hemophilic patients may be lessened. Hemophiliacs had mean serum vitamin A, mean serum folate, and mean red cell folate levels that were not significantly different from controls. Significantly higher mean plasma arginine and lower, but not significantly lower, mean plasma ornithine levels were found in hemophilic subjects, suggesting altered arginase activity.
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PMID:Ascorbic acid, vitamin A, folic acid, and amino acids in blood of patients with hemophilia. 688 15

Gene therapy may be the next major advance for treatment of many diseases, and severe haemophilia (an inherited deficiency of coagulation factor VIII or IX) is a useful model. Progress in gene therapy has been slowed down following fatal multi-organ failure during an adenovirus vector trial for ornithine-transcarbamylase deficiency and two episodes of leukaemia in a retroviral vector trial for severe combined immunodeficiency trial. A small number of early haemophilia clinical trials are in progress or reported. This paper considers ethical and statutory issues related to gene therapy for severe haemophilia within the UK and how these can be addressed through a well-established national network of haemophilia centres. It is likely that these issues will be relevant to clinicians considering gene therapy for other diseases.
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PMID:Gene therapy trials in the UK: is haemophilia a suitable 'model'? 1499 68