World Haemophilia Day: Understanding the Causes of This Rare Disease

There are many ways in which attention can be brought to haemophilia, a rather rare disease in which the patient’s blood is unable to clot blood in a certain manner. World Haemophilia Day, which is celebrated annually on April 17, helps in raising awareness about haemophilia and for better diagnosis and access to special care for millions who remain without treatment and knowledge. This day has also been recognised worldwide and observed throughout the world.

What is Haemophilia?

Haemophilia is a bleeding disorder that falls under the rare section of ailments. People suffering from Haemophilia face issues with blood clotting in a certain manner. Their blood is not able to clot in the way it is supposed to, as their blood lacks blood-clotting proteins. Patients with haemophilia tend to bleed for a much longer time after any given injury than they would usually if their blood had clotted properly.

Patients with conditions like haemophilia may not mind the smaller cuts and injuries but when it comes to severe conditions, they may face life-threatening issues. In such cases, internal bleeding in the knees, elbows, or ankles, for example, can pose to be dangerous and can damage internal cells and organs. Generally, haemophilia is almost always passed down genetically. Having no permanent treatment for haemophilia as of yet, patients have to be regularly given clotting factors that are missing or levels are low  due to this disorder. This World Haemophilia Day you can understand what is it.

Types of Haemophilia

The following are the types of haemophilia:

1. Haemophilia A: This is the most common type of haemophilia. This form of haemophilia is caused by a severe deficiency in factor VIII. This type of haemophilia is also known as ‘classic haemophilia’.

2. Haemophilia B: This type of haemophilia is caused because clotting factor IX is either missing or available very less in the patient’s body. It is also known as ‘Christmas disease’.
   
3. Haemophilia C: Haemophilia C is caused when there is a deficiency in factor XI. This type of haemophilia is quite a rare form of haemophilia and was first discovered in 1953 in people with severe bleeding after dental extractions.

What are the Symptoms of Haemophilia?

Signs of haemophilia depend on the severity of your body’s inability to clot blood. If it is mild, you may bleed after a trauma or surgery. If severe, you may bleed for lesser-known causes. Some of the symptoms of spontaneous bleeding could be:

1. Deep bruises in the body
2. Excessive and unexplained bleeding after surgery, minor cuts, injuries, or dental work
3. Blood spots in urine or stool
4. Bleeding after a injection shot
5. Unexplained nosebleeds/Bleeding in gums
6. Pain or swelling of joints

What are the Causes of Haemophilia?

The primary and major cause of haemophilia is the mutation of the genes that are responsible for controlling and regulating clotting factors. In order for blood to clot, the blood requires the clotting factors [proteins] to enable the clotting process to continue. 

In the case of haemophilia A and B, about 2/3rd of the mutation comes from either of the parents. The remaining fraction can come as a rather spontaneous mutation, sometimes in people who may have no family history of haemophilia whatsoever. 

1. Haemophilia Type A and B Causes

As mentioned before, most types of A and B haemophilia come from parents, as a result of a recessive mutation on the X chromosome. Biological males have one X and Y chromosome, while females have two X chromosomes to complete the cycle. 

Following this chromosome count and order, it is unlikely that biological females will inherit the disorder, as they will almost always have one non-mutated X chromosome at the least. However, they may become ‘carriers’ if they somehow acquire one copy of the mutated X chromosome.

A carrier is a person who does not show any signs or symptoms of the particular condition in question but they can still pass on the condition to their children. For example, biological males can inherit haemophilia if their mother is a carrier and they get one copy of the mutated X chromosome from their mothers. 

2. Haemophilia Type C Causes

Like both type A and B, the type C condition of haemophilia can be the result of inheriting a recessive gene. However, it has been listed separately from type A and B because type C has been known to affect both biological males and females equally. 

Conclusion

With treatment, the symptoms of haemophilia can be prevented or the condition may be further improved, however, there is currently no cure for haemophilia. If you or someone you know has been diagnosed, getting regular check-ups and treatment will help a great deal to ensure that your blood may clot normally. This World Haemophilia Day, make sure you create awareness around you about all the aspects of this disorder discussed above.