Haemophilia is an X-linked recessive disorder, patients with this disease have an increased bleeding tendency. The disease is caused by a deficiency in functional clotting factor VIII (haemophilia A) or clotting factor IX (haemophilia B). Roughly 1 out of every 5.000-10.000 males has haemophilia
A or B.
Symptoms can range from spontaneous joint- and muscle bleeds in severe haemophilia patients to bleeds that only occur after trauma or surgery in mild haemophilia patients. Severe bleeds (such as an intracranial bleed after head injury) can be life threatening and repeated joint bleeds can lead to severe joint damage in the long term.
There have been many advances in haemophilia care in recent years, however, there are still many unanswered questions. The Haemophilia Pearl aims to improve the standard of haemophilia care by collecting and storing clinical data and biospecimens from Dutch haemophilia patients for future research purposes. The biospecimens and clinical data can be used to evaluate diagnostics and treatment methods and assess factors that can predict or modify the clinical course of the disease.
Data and biospecimens for the Haemophilia Pearl will also be collected during the Haemophilia in The Netherlands-6 (HiN-6) project. All Dutch Haemophilia treatment centres and the Dutch Haemophilia Patient Society are part of the Haemophilia Pearl.