Cause of disability

For most people with haemophilia small cuts and bruises to the skin will cause more prolonged bleeding than normal but will be manageable by applying pressure to the area. The real risk is internal bleeding into joints, muscles and the brain. Internal bleeding like this is the cause of permanent disability in clotting disorders. In untreated haemophilia bleeding into joints causes scarring and arthritis in the joint at an early age, repeated bleeding into the same joint exacerbates the problem. Once a large bleed into a joint has occurred the joint becomes inflamed and new blood vessels appear in the joint, these are more likely to bleed than normal blood vessels in a normal joint. With further bleeding more inflammation develops. Eventually the joint becomes very scarred. Scar tissue may fix a joint in one position or significantly reduce the range of movement of a joint. A fixed scarred joint is likely to be termed a ‘fixed flexion deformity’ in medical evidence. It is the pain associated with inflammation that limits mobility in acutely affected joints. Once scarring and fixing occurs or when range of movement is significantly affected, movement, for example gait when walking becomes abnormal. This places abnormal strain on other joints and they are prone to further bleeds and damage. The commonly affected joints are the large joints and these are the:

• Knees
• Ankles
• Hips
• Elbows
• Shoulders

Bleeding into the brain may cause permanent neurological problems e.g. hemiplegia, epilepsy. In infancy bleeding into the brain may cause cerebral palsy, learning difficulties or epilepsy. A bleed in to the brain that causes a permanent impairment, such as cerebral palsy, during infancy may be the first indication that a child has haemophilia. These impairments are the complications of uncontrolled bleeding.