How is hemophilia diagnosed?

Your doctor will perform a physical examination to rule out other conditions. If you have symptoms of hemophilia, the provider will ask about your family’s medical history since this disorder tends to run in families. In children with severe hemophilia, the diagnosis is usually made in infancy. This might happen at the time of circumcision or when the toddler starts to walk and develops excessive bleeding or bruising with minor trauma.

Blood tests are then performed to determine how much factor VIII or factor IX is present. These tests will show which type of hemophilia you have and whether it is mild, moderate, or severe, depending on the level of clotting factor in the blood:

  • People who have 5%-30% of the normal amount of clotting factors in their blood have mild hemophilia.
  • People with 1%-5% of the normal level of clotting factors have moderate hemophilia.
  • People with less than 1% of the normal clotting factors have severe hemophilia.

Your doctor may request that other family members have a Factor VIII level drawn to determine if they are affected. In some cases genetic testing may be necessary.

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