Haemophilia, which literally means love (philia) of blood (haemo), is a rare genetic bleeding disorder characterised by deficiency or dysfunction of specific proteins (known as clotting factors) that play a critical role in the process of blood clot formation.
It is worth noticing that the symptoms of haemophilia can vary substantially among patients based on their levels (activity) of clotting factor. While mild haemophilia may go unnoticed for several years, severe haemophilia usually manifests within the first few months of life.
The main concern of haemophilia is internal bleeding, as this can cause damage to multiple organs in the body. In the past, before the advent of factor concentrates, the life expectancy of patients with severe haemophilia was just 11 years. Remarkably, the development of targeted treatments has meant that patients affected by this condition can now expect to live almost the same as the general population.
