What is haemophilia
Haemophilia is a genetic disorder of haemostasis, that is, the blood clotting process. It is due to the lack or deficiency of a blood protein called clotting factor. In the blood plasma there are several factors (13 in total), which are called coagulation factors I-XIII and are all necessary for the haemostatic process. When one of these coagulation factors is absent or in low levels, the blood does not clot quickly, resulting in the person bleeding for longer time than other people do.
Haemophilia occurs more frequently in males than females, as is genetically transferred from mother to son. Therefore, the person is born with the disorder and lives with it throughout his or her life. The chance of giving birth to a girl with haemophilia is very rare.
The blood clotting process
When blood vessel breaks, specific blood cells, called platelets, concentrate at that point and create a clot, The clotting factors then form a matrix surrounding the clot, which stabilizes it at the point of bleeding. This way, the point of blood leakage is "sealed" and the bleeding stops.
In the case of haemophilia, the absence or insufficient amount of one of the clotting factors prevents the formation of a strong matrix around the clot, making the clot easily degradable and bleeding continues for longer period.
There are two major types of haemophilia:
Haemophilia A
In haemophilia A there is lack or deficiency of clotting factor VIII (Factor 8). It is the most common type of haemophilia as it accounts for about 80% of haemophilia cases. Haemophilia A occurs in 1 in 5,000 newborn boys or in 1 in 10,000 births.
Haemophilia B
Haemophilia B (also known as Christmas disease) is caused by the lack or deficiency of clotting factor IX (factor 9).
MUM,
IS HAEMOPHILIA
A ROYAL
DISEASE?
CLICK HERE IF YOU
WANT TO LEARN MORE
ABOUT THE HISTORY
OF HAEMOPHILIA
Srivastava A, Santagostino E, Dougall A, et al. WFH guidelines for the Management of Hemophilia, 3rd edition. Haemophilia. 2020:00:1-158
https://doi.org/10.1111/hae.14046
