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Is there any permanent cure of haemophilia?

Q: Is their any permanant cure of haemophilia? Is any such thing expected in the future? Please guide me with some information as my younger brother is suffering from this disease and he is two years old.

A:A cure for haemophilia still remains elusive despite constant research. The disease can theoretically be cured by replacing the abnormal gene that controls factor production with a normal one (gene therapy). Although researchers have already used gene therapy to effectively treat haemophiliac animals (mice, dogs, etc.), transferring these therapies to humans has proven more difficult. An ideal system would be one in which the gene is targeted to specific cells, it is non-toxic and does not induce an immune response while the factor is produced in concentrated form and the production is stable for years. A variety of strategies for gene transfer are being tried but the immune response of the host continues to limit long-term success. Evidence suggests that the delivery of clotting factor genes to specific parts of the body, such as the liver, may facilitate the development of immunologic tolerance to the newly expressed clotting factor protein. As yet the most successful and least toxic method of introducing the gene remains undetermined. Newer protocols have been developed for the prophylactic use of factor concentrates in patients to reduce the frequency of joint bleeds. This has resulted in reduced physical impairment, reduced time lost from work or school and greater quality of life as compared with patients who are treated on-demand. The European PedNet has recently revised the prophylactic regimens. The objective of primary prophylaxis is to avoid the complications of repeated joint and other haemorrhages and to maintain a high degree of patient quality of life. This is done by continuous therapy, starting after the first joint bleed or before the age of 2 years or, alternatively, continuous treatment started before the age of 2 for a patient without any previous joint bleed. In contrast, secondary prophylaxis aims to avoid progression of joint disease by either continuous long-term treatment started after two or more joint bleeds or after the age of 2 years or in an intermittent fashion. Despite the advantage of prophylaxis over on-demand therapy (particularly if started before age 2 and prior to any signs of joint disease), it is difficult to practice due to the cost of factor concentrate, its availability, the lifestyle and bleeding pattern of an individual patient, the complications caused by the use of intravenous access devices and the development of inhibitors against the factor. This is being overcome by tailoring the prophylactic treatment for each patient and helping patients maintain normal weight and physical exercise. There has also been an effort to develop longer-acting FVIII products that require less frequent infusions. This has been done by liposomal formulations and addition of high-molecular weight polyethylene glycol to extend the half-life of the liposome (pegylated liposomes). Such a product has recently been developed and human trials have already shown a prolongation in the bleed-free interval. Physiotherapy and exercise guidelines have been developed for haemophiliacs to enable them to choose appropriate activities, improve overall health and prepare the body to manage haemophilia better. Physiotherapy helps to prevent, manage and optimally recover from bleeds while physical activity help in improving both overall health and well-being. Besides treatment, work has also been done in diagnostics and different mutations have been identified in India which will help in the prenatal diagnosis of the condition. I hope this is of help to you. Please consult a pediatric hematologist and also the local Haemophilia Federation for assistance. You can also go to the websites of National Haemophilia Foundation and the World Foundation of Haemophilia to get more information.


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