Haemophilia is a rare disease which only a few people are aware of. World Haemophilia Day, observed annually on April 17th, serves as a reminder of the challenges faced by those living with Haemophilia and other bleeding disorders. It’s a day to raise awareness, offer support, and promote a better understanding of this rare but serious condition. Haemophilia affects individuals worldwide, and with increased knowledge and advocacy, we can strive for a healthier future for those impacted by the disease.
Understanding Haemophilia:
Haemophilia is a genetic bleeding disorder that impairs the body’s ability to clot blood properly. This deficiency is usually caused by a lack or dysfunction of certain clotting proteins, known as factors. The severity of haemophilia varies depending on the level of the deficient clotting factor. Individuals with severe haemophilia may experience spontaneous bleeding into muscles and joints, while those with milder forms may only experience bleeding after injury or surgery.
There are two main types of Haemophilia:
Haemophilia A: Caused by a deficiency of clotting factor VIII.
Haemophilia B: Caused by a deficiency of clotting factor IX.
What causes Haemophilia?
Certain genes create clotting factors. In inherited Haemophilia, the genes carrying instructions for making normal clotting factors mutate or change. The mutated genes may give instructions that end up making abnormal clotting factors or insufficient clotting factors. That said, about 20% of all Haemophilia cases are spontaneous, meaning someone has the disease even though there’s no family history of abnormal bleeding.
Symptoms and complications:
The hallmark symptom of Haemophilia is prolonged bleeding. Common manifestations include easy bruising, joint pain, swelling (haemarthrosis), and excessive bleeding from cuts or injuries. If left untreated, repeated bleeding episodes can lead to chronic pain, joint damage, and even life-threatening internal bleeding.
Management and treatment:
While there is no cure for Haemophilia, advancements in medical technology have significantly improved the quality of life for those affected. The primary treatment involves replacing the missing clotting factor through intravenous infusions. This therapy, known as factor replacement therapy, can prevent or control bleeding episodes and reduce the risk of complications.
In addition to factor replacement therapy, other treatment options include:
- Desmopressin (DDAVP) to stimulate the release of stored clotting factors.
- Gene therapy to introduce functional copies of the deficient clotting factor gene into the body.
- Physical therapy and joint exercises to manage joint pain and prevent deformities.
Challenges associated with the disease
Living with Haemophilia presents unique challenges for patients and their families. Managing the condition requires ongoing medical care, regular monitoring of clotting factor levels, and vigilance to prevent bleeding episodes. Moreover, the financial burden of treatment can be significant, especially in countries with limited access to healthcare resources.
Furthermore, Haemophilia is often surrounded by misconceptions and stigma. Some individuals may face discrimination or social isolation due to their condition. It’s essential to combat these misconceptions through education and advocacy to create a more inclusive and supportive environment for those living with Haemophilia.
Closing thoughts
On World Haemophilia Day, let us come together to support and empower individuals living with Haemophilia. By understanding the disease, promoting awareness, and advocating for better access to care, we can pave the way for a healthier tomorrow for everyone affected by Haemophilia. Together, we can make a difference and ensure that no one faces the challenges of Haemophilia alone.
