What is haemophilia?
Haemophilia is a genetic blood disorder that prevents the blood from clotting properly. Bleeding is uncontrolled, often spontaneous and in different areas of the body. The amount of bleeding depends on the severity of haemophilia. Internal bleeding, which commonly occurs in the spaces around joints, frequently results in pain and swelling. If left untreated, it can cause permanent damage. Worldwide, about one in every 5,000 boys will be born with haemophilia A, and one in every 30,000 boys will be born with haemophilia B.
The symptoms of haemophilia can range from mild to severe, depending on the clotting factors you have. Most cases are mild, but people with severe haemophilia experience symptoms that require ongoing care.
There are about 6,000 people with haemophilia in the UK. Most of these are males because of the way the condition is inherited. Approximately 75% of people with haemophilia around the world have no access to treatment or receive inadequate treatment.
Although there’s no cure for haemophilia. Treatment usually allows a person with haemophilia to enjoy a good quality of life, just look at Alex! In recent decades, genetically engineered clotting factor medications have been developed to prevent and treat prolonged bleeding.
The science behind it…
You start bleeding…
A common occurrences among children, there’s been an accident that’s left your child with a cut or a bruise, but with haemophilia this can be a much bigger problem, we will explain why this happens.
Inside the blood stream
This is a crosscut of a torn blood vessel, we will show the process of repair and how it’s different for haemophiliacs. We’ve highlighted the important things in the blood for clotting: platelets (used for filling ruptures) & fibrinogen (used to keep platelets together)
The platelets gather at the injury point to form a platelet plug that stops any further bleeding, it isn’t that strong but can hold back initially whilst waiting for fibrin to come to strengthen the bond and hold the blood in till the body repairs itself.
Fibrin loves to attach to things but that is bad when floating around in the blood stream so in the bloodstream it is kept as fibrinogen, which means it needs to be told by a chemical released by platelets to tell it where to stick to and become fibrin again.
What haemophilia does
Haemophilia causes blood clotting factors to not be released so they don’t tell the fibrinogen to turn into fibrin which means there isn’t the support for the platelet plug and it collapses meaning there is nothing stopping the bleeding.