Haemophilia diagnosis

How is haemophilia diagnosed?

Haemophilia is usually diagnosed through:

• The physical signs that a person has unusual bleeding problems​

And

• Checking the family history for bleeding problems

And

• Laboratory tests on a blood sample for a person’s clotting factor levels. If a person has low factor VIII levels, they have haemophilia A. If they have low factor IX levels, they have haemophilia B. The laboratory tests will show whether they have mild, moderate or severe haemophilia.  

Children with severe haemophilia are usually diagnosed as babies or toddlers. Sometimes this is because there is a family history of haemophilia or a parent or health professional notices unusual bruising or bleeding.

Haemophilia may be suspected if babies have internal bleeding or unusual swelling or bruising after delivery, continue to bleed after a heel prick test, or have excessive bruising or swelling after immunisation.

The most common first signs suggesting haemophilia are:

• unexplainable recurrent bruises and unusual looking lumps
• significant bruising or swelling after injections (e.g. immunisations). The bruise may feel quite lumpy and babies may be hesitating to use an arm or leg (e.g. limping)
• babies crying frequently when an arm or leg is touched or moved
• warmth and swelling of a joint
• persistent bleeding after surgery or blood tests.

Mild or moderate haemophilia might not be diagnosed until children are older, or sometimes until they are adults. If they 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 the person has surgery, a tooth taken out or a major accident or injury.