What causes this genetic disorder? Haemophilia is commonly caused by a mutation or change in one of the genes. This change of mutation can prevent the clotting protein from working properly. The lack of clotting can lead to prolonged bleeding and difficulty in clot formation.
What happens to you if you have the disorder? Symptoms? Is it lethal/will it kill you?
Haemophilia could lead to spontaneous bleeding. Haemophilia can cause long term problems such as seizures and paralysis. Death can occur if bleeding cannot be stopped. Symptoms of haemophilia:
- Unexplained and excessive bleeding from cuts or injuries, or after surgery or dental work.
- Many large or deep bruises
- Unusual bleeding after vaccination
- Pain, swelling or tightness in your joints
- Blood in your urine or stool
- Nosebleeds without a known cause
- In infants, unexplained irritability
- More severe joint pain
- Stiffness
- The Site of the bleed becoming hot, swollen and tender
Can you fix it/what treatment is available for the disorder?
There is treatment available for haemophilia. The best way to treat haemophilia is to replace the missing blood clotting factor so that the blood can clot properly. It is typically done by injected treatment products into a person’s vein. It is called clotting factor concentrates, but there are two main types of clotting factor concentrates which are Plasma-derived Factor Concentrates and Recombinant Factor Concentrates.
How common is it?
Based on research, Haemophilia affects 1 in 5,000 male births and about 400 babies are born with Haemophilia each year.
Can it be passed onto offspring?
Most people who have haemophilia are born with it. It is almost always inherited from a parent to a child.