Haemophilia is an inherited bleeding disorder where the body lacks critical clotting factors to form blood clots.
The body has proteins called clotting factors which are involved in normal blood clot formation. When there is a deficiency of the clotting factors caused by abnormalities in the genes which are responsible for their production, this results in haemophilia. Deficiencies in clotting factor 8 results in haemophilia A and deficiencies in factor 9 results in haemophilia B.
People with haemophilia often present with bleeding in the muscles and joints. This bleedings can be spontaneous and happen with minimal or no trauma.Most will have such symptoms from childhood.
Haemophilia is a genetic condition and cannot be prevented. For people who have a family history of haemophilia, genetic screening may be recommended prior to starting a family or during pregnancy in evaluate the risk of haemophilia in the child.
Haemophilia is a genetic condition and is caused by mutation in the genetic material of cells that make clotting factors which is involved in the normal blood clotting process. This mutation can be passed from parents to their children.
Diagnosis of haemophilia can be ascertained by measuring factor 8 or 9 in the blood. Furthermore, genetic study on chorionic villous tissue in early pregnancy can also be performed for intrauterine diagnosis. Similar genetic study can also be used to screen the relatives for a complete family history.
All bleeding episodes have to be treated promptly by increasing the level of factor 8 or 9 as necessary. Increasing blood factors can be achieved by infusion of commercially available factor concentrates.
Preparations of factor concentrates are made with pooled donor plasma (from many blood donors) or recombinant technology (from genetic manipulation of animal cells to produce human factors). The administration of factors will be done by a medical professional or be taught to people living with haemophilia or their caregivers (ie home treatment) which decreases their dependency on hospital treatment.
The administration of foreign factor 8 or 9 may at times lead to the development of antibodies against these factors and a change in treatment regimens. Non-factor replacement products such as emicizumab are now available with limited accessibility to select group of individuals. Intensive study on gene therapy to correct the abnormal gene in haemophilia directly is currently undertaken in several major centres with the possibility of this being an additional treatment option in the near future.
The haemophilia service at SGH provides a multidisciplinary approach to care for patients living with haemophilia.