These tests are done in specialist laboratories, attached to a haemophilia centre.
Diagnosis
What are the signs and symptoms?
People with haemophilia can bleed inside or outside the body. Most bleeding in haemophilia occurs internally, into the muscles or joints. The most common muscle bleeds occur in the muscles of the upper arm and forearm, the iliopsoas muscle (the front of the groin area), the thigh, and the calf. The joints that are most often affected are the knee, ankle, and elbow.
If bleeding occurs many times into the same joint, the joint can become damaged and painful.
Repeated bleeding can cause other health problems like arthritis. This can make it difficult to walk or do simple activities. However, the joints of the hands are not usually affected in haemophilia (unlike some kinds of arthritis).
The signs of haemophilia A and B are the same:
- Big bruises
- Bleeding into muscles and joints
- Spontaneous bleeding (sudden bleeding inside the body for no clear reason).
- Prolonged bleeding after getting a cut, removing a tooth, or having surgery.
Bleeding into a joint or muscle causes:
- an ache or “funny feeling”
- swelling
- pain and stiffness
- difficulty using a joint or muscle
How is haemophilia diagnosed?
Haemophilia is diagnosed by taking a blood sample and measuring the level of factor activity in the blood. Haemophilia A is diagnosed by testing the level of factor VIII activity. Haemophilia B is diagnosed by measuring the level of factor IX activity.
These tests are done in specialist laboratories, attached to a haemophilia centre. Ask your local haemophilia centre if you would like to know more.
If the mother is a known carrier of haemophilia, testing can be done before a baby is born. Prenatal diagnosis can be done at 9 to 11 weeks by chorionic villus sampling (CVS) or by fetal blood sampling at a later stage (18 or more weeks).
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