People with hemophilia can learn how to perform these infusions themselves so that they can stop bleeding episodes and, by performing the infusions on a regular basis called prophylaxis , can even prevent most bleeding episodes. Good quality medical care from doctors and nurses who know a lot about the disorder can help prevent some serious problems. An HTC not only provides care to address all issues related to the disorder, but also provides health education that helps people with hemophilia stay healthy.
Learn more about treatment. About percent of people with hemophilia develop an antibody called an inhibitor that stops the clotting factors from being able to clot the blood and stop bleeding.
Treatment of bleeding episodes becomes extremely difficult, and the cost of care for a person with an inhibitor can skyrocket because more clotting factor or a different type of clotting factor is needed. People with inhibitors often experience more joint disease and other problems from bleeding that result in a reduced quality of life. Learn more about inhibitors. Skip directly to site content Skip directly to page options Skip directly to A-Z link. Section Navigation. Facebook Twitter LinkedIn Syndicate.
What is Hemophilia? Minus Related Pages. Information For…. From Genetics Home Reference. Description Hemophilia is a bleeding disorder that slows the blood clotting process.
Frequency The two major forms of hemophilia occur much more commonly in males than in females. Causes Changes in the F8 gene are responsible for hemophilia A, while mutations in the F9 gene cause hemophilia B. Learn more about the genes associated with Hemophilia F8 F9. Inheritance Hemophilia A and hemophilia B are inherited in an X-linked recessive pattern. Research Studies from ClinicalTrials.
Haemophilias A and B. Citation on PubMed Franchini M. Acquired hemophilia A. Citation on PubMed Giangrande P. Haemophilia B: Christmas disease. Expert Opin Pharmacother. Haemophilia A: from mutation analysis to new therapies. Nat Rev Genet. If you have a severe form of the condition, the main concern is bleeding inside your body, especially in your knees, ankles and elbows.
Internal bleeding can damage your organs and tissues and be life-threatening. Hemophilia is almost always a genetic disorder. Treatment includes regular replacement of the specific clotting factor that is reduced.
Newer therapies that don't contain clotting factors also are being used. Signs and symptoms of hemophilia vary, depending on your level of clotting factors. If your clotting-factor level is mildly reduced, you might bleed only after surgery or trauma.
If your deficiency is severe, you can bleed easily for seemingly no reason. A simple bump on the head can cause bleeding into the brain for some people who have severe hemophilia. This rarely happens, but it's one of the most serious complications that can occur. Signs and symptoms include:. When a person bleeds, the body typically pools blood cells together to form a clot to stop the bleeding. Clotting factors are proteins in the blood that work with cells known as platelets to form clots.
Hemophilia occurs when a clotting factor is missing or levels of the clotting factor are low. To maintain enough clotting factor in the bloodstream to prevent bleeds, patients with severe hemophilia are typically prescribed a regular treatment regimen, called prophylaxis — or prophy for short.
This means a person will infuse their medication on a regular schedule — for example every day or every other day, depending on how long the factor lasts in the body. Watch our video on how clotting factor works.
New treatments that use other ways of preventing bleeds are also available. These treatments are known as non-factor replacement therapies. One available therapy is emicizumab, a laboratory-engineered protein that works by performing a key function in the clotting cascade that is normally carried out by the FVIII protein. It can be prescribed for routine prophylaxis to prevent or reduce the frequency of bleeding episodes in adults and children of all ages, newborn and older, with hemophilia A with and without factor VIII inhibitors.
Emicizumab is not infused, but injected under the skin subcutaneously. It is important to discuss all treatment options with your doctor or the staff at your HTC. DDAVP desmopressin acetate is the synthetic version of vasopressin, a natural antidiuretic hormone that helps stop bleeding.
In patients with mild hemophilia, it can be used for joint and muscle bleeds, for nose and mouth bleeds, and before and after surgery. It comes in an injectable form and a nasal spray. Aminocaproic acid prevents the breakdown of blood clots. It is often recommended before dental procedures, and to treat nose and mouth bleeds. It is taken orally, as a tablet or liquid. MASAC recommends that a dose of clotting factor be taken first to form a clot, then aminocaproic acid, to preserve the clot and keep it from being broken down prematurely.
There are many new treatments for hemophilia A being developed, from gene therapy to new non-factor replacement therapies. Visit the Future Therapies section for updated information on the pipeline of new therapies, as well as extensive information on the development of gene therapy as a treatment for hemophilia. There's a lot to know about living with a bleeding disorder like hemophilia A.
Organized by life stages, Steps for Living provides information on recognizing the signs of bleeds in children, help on navigating school issues, how to exercise safely, helping teens manage their bleeding disorder, information on workplace accommodations, and much more. There are downloadable checklists, toolkits, videos, and more.
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