Symptoms & diagnosis

The symptoms of moderate to severe haemophilia typically appear in infancy or childhood – usually around the time of increased mobility, curiosity, and independence. Babies and infants with very low levels of clotting factors bruise easily – even by just being picked up and cuddled – and easy-bruising is usually an indication of an underlying clotting abnormality. Bleeding into the joints and muscles can occasionally occur after a minor knock or bump, and painful and/or swollen joints suggest that an internal bleed may have occurred. 

The symptoms of milder forms of haemophilia often appear a little later in life and include symptoms associated with bleeding into the joints, muscles or soft tissues (sometimes without an obvious injury), prolonged bleeding after cuts, bites or minor surgery (e.g. tooth extraction or circumcision), bruising on the surface of the skin and blood in the urine.

Although each of these more obvious symptoms are distressing in themselves, it is the long-term joint and muscle damage that can develop as a result of frequent internal bleeding that causes most concern. Before effective haemophilia treatments became available, it was not unusual for sufferers to develop permanent mobility problems, and to have serious difficulty walking, standing and sitting.