What is Hemophilia?

April 18, 2024 /
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Hemophilia is a genetic disorder that impairs the body’s ability to make blood clots, a critical process required to stop bleeding; this means that even a minor injury can lead to serious health issues due to prolonged bleeding. Understanding the complexities of Hemophilia is crucial for both medical professionals and the general public to better support those affected by this challenging condition. Hemophilia manifests primarily in two forms: Hemophilia A, which is the more common type and is due to the deficiency of clotting Factor VIII, affects fewer than 1 in 10,000 individuals or about 2,500 Canadians; Hemophilia B, caused by the deficiency of Factor IX, affects approximately 1 in 50,000 individuals or around 600 Canadians.

What is Hemophilia?

At its core, hemophilia is classified based on the deficiency of one of two key clotting factors:

  • Hemophilia A: Caused by the absence or malfunction of Factor VIII
  • Hemophilia B: Caused by deficiencies in Factor IX

These factors are proteins that play critical roles in the complex chemical process that leads to blood clotting. The process can be likened to a cascade or a series of dominos falling; each factor sets off a chain reaction that leads to the next, culminating in the formation of a blood clot. When one of these proteins, such as Factor VIII, is absent or not functioning properly, this cascade is interrupted. The dominoes stop falling, and the chain reaction necessary for forming a clot is broken. As a result, clotting does not occur, or it happens much more slowly than it should.

This impairment in the clotting process means that when a person with hemophilia gets a cut or a bleed inside their body, the platelets at the site of the injury cannot mesh together effectively to form a stable, permanent clot. Instead, the clot formed is ‘soft’ and can be easily displaced, leading to continued bleeding. Without appropriate treatment, this bleeding can persist until the pressure outside the broken blood vessel equals the pressure within it, a process that can take days or even weeks.

The Clotting Process

The clotting mechanism involves several steps:

  1. Vasoconstriction: Immediately after an injury, blood vessels constrict to reduce blood flow to the area.
  2. Platelet plug formation: Platelets adhere to the injury site and each other, forming a temporary plug.
  3. Coagulation cascade: This involves a series of steps wherein clotting factors are activated one after the other. This is the stage that is impacted in hemophilia.
  4. Fibrin clot formation: The final step where a stable clot is formed by a meshwork of fibrin proteins that seals the wound permanently.

In individuals with hemophilia, the coagulation cascade is incomplete due to the absence of necessary clotting factors, leading to inadequate fibrin formation and unstable clots.

Advocacy and Support in Canada

Organizations like the Canadian Hemophilia Society play a pivotal role in advocacy and support. They lobby for better healthcare policies, raise public awareness about the condition, and provide direct support to those affected through various programmes and initiatives. Their efforts are crucial in ensuring that every Canadian living with hemophilia has access to necessary medical treatments and a support network that helps improve their quality of life.