Types of haemophilia pdf
You can message your clinic, view lab results, schedule an appointment, and pay your bill. There are many factors in the blood that are involved in the forming of clots to stop bleeding. A person with hemophilia is missing, or has a low supply of, one of the factors needed in order for the blood to clot. Hemophilia is classified by its level of severity. Hemophilia may be mild, moderate, or severe, depending on the level of the blood clotting factors in the blood.
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New to MyHealth? How You Can Take Action. Research Projects. Fund Your Research. Community Voices in Research. National Research Blueprint. Healthcare Professionals. Guidelines on Care. Allied Healthcare. Community Resources. Request Information. Resources Near You. Financial Assistance. Contact Us. The type of hemophilia a patient has depends on the specific clotting factors that person is missing. These mutations typically are inherited, although they also may occur spontaneously.
The F8 gene is found on the X chromosome, of which males inherit only one copy; females inherit two copies. Because of this, hemophilia A tends to affect more men — who inherit only a faulty X chromosome from their mothers — than women. Individuals with mild cases may not experience significant bleeding until having surgery, sustaining a serious injury, or experiencing other major trauma.
As such, the condition may remain undiagnosed until adulthood. Treatment for hemophilia A typically consists of supplying FVIII to patients intravenously, or directly into the bloodstream, as needed. People with severe forms of the disease also may receive FVIII prophylactically, or as preventive measure, to maintain clotting factor levels in their blood sufficiently high at all times.
Such preventive measures help type A patients to avoid spontaneous bleeds. Also known as Christmas disease, from the first person to be diagnosed with this disorder type, hemophilia B stems from mutations in the F9 gene. Type B is similar to hemophilia A, in that F9 also is found on the X chromosome, making males more susceptible to the disease than females. Yet, hemophilia B is approximately four times less common than hemophilia A. Like hemophilia A, hemophilia B also can be divided into three categories of severity mild, moderate, and severe , based on FIX activity levels following the same percentage intervals.
Treatment for hemophilia B usually involves supplying FIX to patients prophylactically on a regular basis to prevent bleeds, or on an on-demand basis to treat bleeding episodes. FXI assists in clotting by helping produce thrombin, a protein that converts fibrinogen — a soluble protein present in blood plasma — to fibrin. Fibrin traps small cell fragments called platelets, holding them together to keep a blood clot in place.
Unlike other types of hemophilia, the F11 gene encoding FXI is not located on the X chromosome, but on chromosome 4.
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