Haemophilia is a blood disorder which involves a lack of clotting factors. Clotting factors are proteins that help the body stop bleeding when you are injured. While small cuts may not be a problem for some people with haemophilia, bumping the head or any kind of internal injury can be life-threatening, and people with haemophilia do not stop bleeding as quickly. This can lead to complications. Haemophilia is usually inherited from one’s parents.
Common symptoms of haemophilia include:
Depending on how severe your haemophilia is, you will experience symptoms at different levels. If you have a mild form of the disease, you may only bleed after major trauma to the body, like after surgery. However, if you have a severe form of the disease, it’s possible you’ll bleed excessively from a small cut.
It’s important to know the signs and symptoms of bleeding in the brain. People with haemophilia are at increased risk of brain bleeds due to hitting the head. These symptoms include:
See a doctor if you’re experiencing any signs of a brain bleed, an injury that is bleeding without stopping, or have swollen joints that are hot to the touch.
Haemophilia is caused due to a lack of sufficient clotting factors in the body. Clotting factors work in harmony with platelets to hold blood cells together at the site of an injury, forming a clot.
People with inherited haemophilia either have haemophilia type A or haemophilia type B. Type A is characterised by a lack of Factor VIII and Type B is characterised by a lack of Factor IX.
People with acquired haemophilia do not have a family history of the disease. Instead, their body’s immune system has decided to attack Factor VIII or Factor IX in the body, causing an inflammatory response and a lack of Factor VIII or Factor IX.
Acquired haemophilia can be caused by another immune disorder, pregnancy, certain medications, multiple sclerosis, or cancer.
Haemophilia is carried on the X chromosome, meaning it’s almost always young boys who inherit it from their mother. Girls have 2 X chromosomes (one X from their mother and one X from their father) and boys have one X and one Y chromosome (the X from their mother and the Y from their father).
If girls inherit an X chromosome with the gene for haemophilia, they typically have no symptoms of the disease because they have another X chromosome that does not carry the disease.
If boys inherit the haemophilia gene on their only X chromosome, they will get haemophilia.
Risk factors for haemophilia are having a family member with the disease and being assigned male at birth.
Severe forms of haemophilia usually appear within the first year of life. Milder forms may not be diagnosed until later. If a doctor suspects you or your child has haemophilia, they will take a medical history and ask about recent symptoms. A diagnosis can be confirmed with genetic testing and blood tests to look for the presence of clotting factors.
Genetic testing can also be done if you’re considering becoming pregnant to help you make an informed choice about becoming pregnant.
Complications of haemophilia include internal bleeding, organ damage, bleeding in the throat, joint damage, infection, and a bad reaction to treatment with clotting factors.
Treatment for haemophilia involves clotting factor replacement. This can be done in response to an injury, but most people with haemophilia also receive clotting factor treatments as a way of preventing complications of injury.
There are also drugs that can be continuously used to stimulate the release of more clotting factors, prevent the breakdown of clots, and prevent bleeding episodes. Physical therapy may also help with joint pain in people with haemophilia.