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Haemophilia

Haemophilia is the name of several hereditary genetic illnesses. Hemophilia (heem-a-FILL-ee-ah) is a rare inherited bleeding disorder in which the blood does not clot normally. Bleeding may occur spontaneously or following injury.Hemophilia occurs in 2 forms, hemophilia A and B. Hemophilia A , also known as factor VIII deficiency, is the cause of about 80% of cases. Hemophilia B , which makes up the majority of the remaining 20% of cases, is a deficiency of factor IX.

Patients are classified as mild, moderate, or severe, based on the amount of factor present in the blood. In both forms, a gene is defective. The defective gene interferes with the ability of the body to produce the clotting factors that allow for normal clotting. The result is a tendency for abnormal, excessive bleeding. Persons with hemophilia may bleed for a longer time than others after an injury or accident. They also may bleed internally, especially in the joints (knees, ankles, and elbows).

The most common type of bleeding in hemophilia involves muscles and joints. Clotting is a injury to a blood vessel causes a complex chain of events that results in a blood clot. Clotting factors are proteins in the blood that work with platelets—a type of small blood cell—to help the blood to clot. Because it is missing or has low levels of one of these clotting factors.

Sometimes people with hemophilia need infusions of a clotting factor or factors to stop bleeding. Clotting is your body's reaction to bleeding and keeps you from losing too much blood. Losing too much blood can be life threatening and can damage your internal organs. This clotting process is also called blood coagulation. When blood vessels are damaged, clotting factors help the platelets stick together to plug cuts and breaks at the site of the injury. In people with hemophilia, blood does not clot as it should.

Causes of Hemophilia

Common causes of Hemophilia

  • Clotting factors VIII and IX.
  • Defect the genes( X and one Y chromosome).

Symptoms of Hemophilia

Common Symptoms of Hemophilia

  • Prolonged nosebleeds.
  • Bleeding from biting down on the lips or tongue.
  • Bleeding following surgery.
  • Blood in the urine (called hematuria).
  • Bruising.
  • Swelling in the joints, soft tissue, and muscles.
  • Trauma.
  • Pain.
  • Stiffness.
  • Headache.
  • Nausea.
  • Vomiting.
  • Seizure.

Treatment of Hemophilia

Common Treatment of Hemophilia

  • Avoid aspirin and anti–inflammatory agents such as ibuprofen (Advil) because they may further interfere with blood clotting.
  • Drink plenty of fluids to ensure hydration.
  • Apply ice and put a splint on affected joints after bleeding to provide relief from symptoms.
  • Medicine desmopressin (DDAVP) is sometimes given to raise the body's levels of factor VIII. Since the effect wears off with chronic use, it is applied only in certain situations.
  • Preventive therapy to prevent bleeding that could cause permanent damage to your joints, muscles, or other parts of the body.
  • Apply direct pressure to any site at which you are bleeding externally.
  • Replacement therapy can be given on a regular basis to prevent bleeding. This therapy is more likely to be used in persons with severe hemophilia. It is often used in children to prevent damage to joints from bleeding.

 

 


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