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 coagulation activity in the blood. Haemophilia B is diagnosed by measuring the level of factor IX activity.

If the mother is a carrier, 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).

These tests can be done at a haemophilia treatment centre.

Where do bleeds occur?
Most bleeding in haemophilia occurs internally, into the joints or muscles.

The joints that are most often affected are the knee, ankle, and elbow. Repeated bleeding without prompt treatment can damage the cartilage and the bone in a joint, leading to chronic arthritis and disability.

The most serious muscle bleeds are the iliopsoas muscle (the front of the groin area). the forearm, and the calf.

Some bleeds can be life-threatening and require immediate treatment. These include bleeds in the head, throat, gut, or iliopsoas.