How is haemophilia diagnosed

Haemophilia is usually diagnosed through:

  • The physical signs that a person has unusual bleeding problem
  • Checking the family history for bleeding problems
  • A blood test that measures a person’s clotting factor levels. If a male has low factor VIII (8) levels, he has haemophilia A. If he has low factor IX (9) levels, he has haemophilia B. The tests will show whether he has mild, moderate or severe haemophilia. 

Children with severe haemophilia are usually diagnosed in the first year when their parents or health professionals notice unusual bleeding problems or there is a family history of haemophilia. Most babies with haemophilia do not have bleeding problems at birth. However, some bleeding problems may appear at birth or soon after.  Haemophilia may be suspected if babies have internal bleeding or swelling after delivery, continue to bleed after a heel prick or after circumcision, or bruise after immunisation.

If there is a family history of haemophilia, a sample of the baby’s blood can be tested after birth to check the factor VIII or IX levels and see whether the baby has haemophilia.

When babies begin to crawl and walk, they can run into hard objects as well as having knocks and twists, falls or sitting down with a bump. Bruising easily might be the first sign they have a bleeding problem.

Mild or moderate haemophilia might not be diagnosed until you are older, or sometimes until you are an adult. If you have mild haemophilia, minor injuries may heal normally because there is enough clotting factor activity in the blood. The bleeding problem might not be noticed until you have surgery, a tooth taken out or a major accident or injury.

Date last reviewed: 21/06/2012