Hemophilia (Paediatric Hemato Oncology)

Acute
Benign Hematological Disorders

What is Hemophilia?

Hemophilia is a rare disorder in which the blood doesn't clot in the typical way because it doesn't have enough blood-clotting proteins (clotting factors). The patient has prolonged bleeding after an injury. Small cuts usually aren't much of a problem. The main concern is a severe form of the disease where there can be bleeding inside the body, like 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.

Signs and symptoms of spontaneous bleeding include:

  • Unexplained and excessive bleeding from cuts or injuries, or after surgery or dental work
  • Many large or deep bruises
  • Unusual bleeding after vaccinations
  • Pain, swelling or tightness in your joints
  • Blood in your urine or stool
  • Nosebleeds without a known cause
  • In infants, unexplained irritability

Seek emergency care if you or your child has:

  • Signs or symptoms of bleeding into the brain
  • An injury in which the bleeding won't stop
  • Swollen joints that are hot to the touch and painful to bend

How is it diagnosed?

How is it diagnosed?

Severe cases of hemophilia usually are diagnosed within the first year of life. Mild forms might not be apparent until adulthood. Some people learn they have hemophilia after they bleed excessively during a surgical procedure. Clotting-factor tests can reveal a clotting-factor deficiency and determine how severe the hemophilia is. For people with a family history of hemophilia, genetic testing might be used to identify carriers to make informed decisions about becoming pregnant. It's also possible to determine during pregnancy if the fetus is affected by hemophilia. However, the testing poses some risks to the fetus. Discuss the benefits and risks of testing with your doctor.

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