Haemophilia is a group of hereditary genetic disorders that impair the body’s ability to control blood clotting or coagulation.
MY nephew recently had a swelling of his right knee after a fall during football practice. At first, we thought the swelling was due to the knee injury. But when the swelling did not subside, we took him to a doctor. After a series of tests, he was diagnosed with haemophilia. What is this?
Haemophilia is a bleeding disorder in which blood does not clot normally.
This means that if you have haemophilia, you may bleed for a longer time compared to someone who doesn’t have haemophilia. You may bleed inside your body, especially in your knees, ankles and elbows. Sometimes, you may even bleed inside your organs.
How did he get haemophilia? Is it due to an injury or infection?
Haemophilia is mostly an inherited disease. This means that your nephew got it from his parents.
However, there are some forms of haemophilia which are not inherited. These are called acquired haemophilia, but they are rare. You didn’t inherit it, but over time, your body forms antibodies that attack clotting factors, and you present with symptoms of haemophilia. This is an autoimmune disease.
Something to note is that inherited haemophilia is passed down through the X chromosome.
We all have two sex chromosomes, the X and the Y. If you are a girl, you inherited one X chromosome from your mother and the other X from your father. If you are a boy, you inherited one X chromosome from your mother and a Y from your father.
Because the gene for haemophilia is located on the X chromosome, it cannot be passed down from father to son, only from mother to son.
Most women who inherited the haemophilia gene and have it on one of their X chromosomes are simply carriers, and they do not manifest signs or symptoms of haemophilia. Inherited haemophilia is predominantly a male disease.
Why do haemophiliacs bleed?
In haemophilia, you have little or no clotting factor in your blood. There are several types of clotting factors that every human being has. These work together with platelets in a complex clotting process to stop bleeding should you get an injury.
This is how the clotting process works.
When an injury occurs and one or more of your underlying blood vessels is traumatised, the walls of your blood vessels contract quickly to limit the flow of blood outside your body.
The platelets, which are in your blood, come rushing to the site of injury. They stick there, plugging the area, to stop the bleeding. As they do so, they also release some chemicals to attract other cells to the area to make them stick and clump together.
Then the clotting factors, which are also swimming in your blood, come to play. They work on the surface of these platelets to start a cascading reaction. This results in the formation of a fibrin clot, which is something like a mesh to permanently stop your bleeding.
Normally, these clotting or coagulation factors are dormant. They only act when you are injured.
So in haemophilia, which clotting factor is missing?
There are 13 clotting factors altogether. They are all written in Roman numerals, like I, II, III and so on. They act in a certain cascade which I actually memorised in medical school, but granted, it’s a complicated activation process.
But there are several types of haemophilia.
·Haemophilia A: This one is caused by the lack of clotting factor 8 (VIII). It is the most common form of haemophilia, occurring in as many as eight out of 10 haemophiliacs.
·Haemophilia B: This one is caused by the lack of clotting factor 9 (IX). It is the second most common type.
·Haemophilia C: This one is caused by the lack of clotting factor 11 (XI), and it is a milder disease compared with the other two.
How do we know if we have haemophilia?
If your clotting factor levels are very low, you may experience spontaneous bleeding – which means you can bleed even without any injury.
If your levels are mild to moderately low, you may bleed only after injury, or surgery.
Do look out for:
· Large or deep bruises
· Joint pains and swellings caused by internal bleeding
· Blood in your urine or stool
· Prolonged bleeding from cuts or injuries or after surgery
· Nose bleeds for no reason at all
Can we treat haemophilia?
There is no cure for haemophilia, but the bleeding can be controlled and you can actually live a fairly normal life.
Treatments include infusions of clotting factors, injections of the hormone desmopressin (DDAVP) and antifibrinolytics.
Dr YLM graduated as a medical doctor, and has been writing for many years on various subjects such as medicine, health, computers and entertainment. For further information, e-mail firstname.lastname@example.org. The information contained in this column is for general educational purposes only. Neither The Star nor the author gives any warranty on accuracy, completeness, functionality, usefulness or other assurances as to such information. The Star and the author disclaim all responsibility for any losses, damage to property or personal injury suffered directly or indirectly from reliance on such information.