Author: Samantha Rosie, Physiotherapist
17 April marks World Haemophilia Day.
What is heamophila?
Haemophilia is an inherited bleeding disorder. Inherited means that it is passed on through a parent’s genes to a child, although about 30% of people with haemophila have no family history of the disorder and it is caused by a change in the person’s own genes. Bleeding disorder means that there is a deficiency of clotting factor in the person’s blood, causing them to bleed spontaneously or to bleed profusely when hurt.
Haemophilia predominantly affects males, and women who carry the gene and pass it on to their sons are known as carriers. It is a rare disorder affecting around 1 in 10 000 people.
What are the different types of heamophilia?
There are two types of heamophilia. Heamophilia A is a deficiency of clotting factor VIII (factor 8), and heamophilia B is a deficiency of clotting factor IX (factor 9). You cannot tell the difference between the two types, but it is distinguished by doing a blood test because the treatments for each type differ.
How and where do people with haemophilia bleed?
It will depend on the severity of the person’s haemophilia.
· A person with mild haemophilia will take longer to stop bleeding when they are cut, or have an operation, for example.
· A person with moderate haemophilia may bleed for a longer time after having an operation, dental work or a bad injury. They may have large bruises after bumping into something.
· A person with severe heamophilia will have spontaneous bleeding in different parts of their body. This means that they can bleed without being hurt, or for no obvious reason. They might bleed up to two times per week. Common sites of bleeding are:
o Joints
o Muscles
o Superficial soft tissue (bruises)
o Nose
o Less common sites of bleeding can be: mouth, eyes, abdomen, brain, urinary tract, neck and throat, gastrointestinal tract (GIT).
How is haemophilia treated?
The treatment of choice for haemophilia is factor concentrates. This is either plasma-derived (from human blood) or recombinant (manufactured). The factor concentrate is injected into the person’s blood stream, and replaces the missing factor, to help the person form blood clots if they are bleeding.
The gold standard of treatment is prophylaxis. This means that a person will receive treatment even if they are not bleeding, to maintain the right level of clotting factor in the blood. This greatly reduces their chances of bleeding and consequently lessens their chances of long-term damage to joints and muscles.
For more information on haemophilia, folllow this link: https://www.wfh.org/en/home
For information on haemophilia and Covid-19, follow this link: https://news.wfh.org/specific-risks-of-covid-19-to-the-bleeding-disorders-community/
Reference: World Federation of Hemophilia – www.wfh.org