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Hemophilia

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  • Hemophilia

    Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency. Annual incidence is estimated at 1/5,000 male births and the prevalence is estimated at 1/12,000 which causes increased bleeding and usually affects males. About 70% of the time it is inherited as an X-linked recessive trait, but around 30% of cases arise from spontaneous mutations. Haemophilia A (incidence) occurs in approximately 1 in 5,000 males.The incidence of haemophilia B is 1 in 30,000 in male population.Of these, 85% have haemophilia A and 15% have hemophilia B.

  • Hemophilia

    Signs and symptoms
    Characteristic symptoms vary with severity. In general symptoms are internal or external bleeding episodes, which are called "bleeds".Patients with more severe haemophilia suffer more severe and more frequent bleeds, while patients with mild haemophilia typically suffer more minor symptoms except after surgery or serious trauma. Moderate haemophiliacs have variable symptoms which manifest along a spectrum between severe and mild forms.

  • Hemophilia

    Treatment
    Studies differ but some show an infection rate as high as 50%. These infections can usually be treated with intravenous antibiotics but sometimes the device must be removed. Also, there are other studies that show a risk of clots forming at the tip of the catheter. Still, many families choose to use the device because of the benefits. Some patients with severe haemophilia and most with moderate and mild haemophilia treat only as needed without a regular prophylactic schedule. Due to risk of permanent disability, prophylactic treatment is always indicated if a "target joint" (a joint that has repeated bleeding episodes) is identified.Mild haemophiliacs often manage their condition with desmopressin, which releases stored factor VIII from blood vessel walls.

 

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