A Rare Blood Disease You Need to Know About.

05 Aug A Rare Blood Disease You Need to Know About.

It was a bright sunny day and Kunle was getting ready to host his friends to brunch in his new home. His excitement soon turned to a nightmare when he slit his thumb with a knife while preparing a meal in the kitchen and this wound, though seemingly small, won’t stop bleeding. Kunle was rushed to the hospital, and he was assessed to have a rare blood condition known as Haemophilia.

Haemophilia, a rare blood disease typically inherited from one or both parents, is a disorder that stops blood from clotting properly leading to prolonged bleeding episodes and spontaneous bleeding into joints, muscles, and other tissues. Here’s what – Clotting is an essential part of blood function as its a mechanism that helps to prevent excessive blood loss when we are injured. And these functions are largely controlled by proteins known as clotting factors.

In haemophilia, the severity of this condition is usually determined by the amount of clotting factors in the blood. The lower the amount of the factor, the more likely it is that bleeding will occur, leading to serious health problems. Of the two different types – Haemophilia A and Haemophilia B, Haemophilia A is the most common, caused by a lack of clotting factor VIII.  Haemophilia B is less common, it is caused by a lack of clotting factor IX. Haemophilia is a serious condition, but with proper treatment, people with haemophilia can live long and healthy lives.

So, what is the cause of this rare condition?

This disease is caused by mutations in genes that are responsible for the production of clotting factors (clotting proteins) in the blood. This change or mutation can prevent the essential clotting factors from working properly or to be missing altogether. These genes responsible for producing these factors are located on the X chromosome. While males have one X and one Y chromosome (XY) and females have two X chromosomes (XX), the X chromosome contains many genes that are not present on the Y chromosome. 

This means that males only have one copy of most of the genes on the X chromosome, whereas females have 2 copies. This means that males are at higher risk of a disease like haemophilia if they inherit an affected X chromosome that has a mutation in either the factor VIII or factor IX gene. Females can also have haemophilia, but this is much rarer.

A few things that could probably suggest the presence of this disease. Some of them include: 

1. Prolonged bleeding after cuts, dental procedures, or surgery. 
2. Bleeding into the joints, causing swelling, pain, or tightness in the joints. 
3. Excessive bleeding after vaccinations or minor injuries.
4. Nosebleeds that are quite hard to stop. 

However, this disease can be managed well by replacing the missing clotting factor through injections. Consulting with a medical professional should be the first thing to be done if this condition is suspected.

While living with haemophilia can be quite challenging, the latest advances in medical treatment and support services have greatly improved the quality of life for those affected by the condition. Ultimately, with more commitment to research and development of new therapies, a cure might be on the horizon.