Haemophilia A is a rare, genetic disorder characterized by the inability of blood to clot properly due to a deficiency or absence of factor VIII, a key clotting protein. This condition can lead to prolonged bleeding after injury, surgery, or even spontaneously in severe cases.
Symptoms of Haemophilia A
The severity of symptoms can vary, but they generally include excessive bleeding from cuts or injuries, spontaneous bleeding into joints and muscles, and easy bruising. Bleeding into joint spaces is a common and painful manifestation that can lead to chronic joint disease and disability over time. In infants, a common first sign is excessive bleeding after circumcision or during teething.
The situation in Europe
Europe has a proactive stance on including specialized Haemophilia centers providing comprehensive care. The European Haemophilia Consortium works tirelessly to improve the lives of people with Haemophilia in the European Union by advocating for better access to treatment and supporting research.
Treatments available
While there is no cure for Haemophilia A, it can be managed with regular infusion of factor VIII concentrate to replace the missing protein, but it is time-consuming and some people develop antibodies to factor VIIII, which makes the treatment less effective.
Recent advancements have emerged, tailored to enhance life quality for individuals with Haemophilia A, by extending the duration of the clotting proteins in the bloodstream. This development means patients require fewer weekly infusions. Next to that, the introduction of subcutaneous injections offers a more convenient alternative to traditional intravenous infusions.
Exploring the horizon of Haemophilia A treatment: innovative therapy
Newer treatments include gene therapy, which offers hope for longer-term solutions. Gene therapy is a new approach to treating Haemophilia A that involves delivering a working copy of the factor VIII gene to the liver. Gene therapy is still in its early stages of development and more research is needed. Non-factor therapies are used to help to prevent bleeds by restoring the balance of the coagulation system.
Risks and genetic factors
Haemophilia A is typically inherited in an X-linked recessive pattern, which predominantly affects males. However, women can be carriers and may experience symptoms if they have a deficiency in factor VIII. The risk of developing Haemophilia A is higher in families with a history of disorder.
Detection of Haemophilia A
Newborn screening is not routine for Haemophilia, but the condition is usually suspected after abnormal bleeding. Diagnosis is confirmed through blood tests that measure the level of factor VIII activity in the blood.
Join the Curewiki's community
Living with Haemophilia A requires a support system and access to the latest information on clinical trials and treatments. Curewiki is an initiative that helps bridge the gap between patients and research. By subscribing to Curewiki, individuals can stay informed about new research and be matched with clinical trials tailored to their specific condition. This service empowers patients to take an active role in their health management and contributes to the advancement of Haemophilia research.
Take action now
Subscribe to Curewiki today. Stay informed and access new treatment opportunities that could make a significant difference in your or your loved one's life. Together, we can tackle the challenges of Haemophilia A head-on.
Remember, staying informed and talking to specialized doctors is your first step towards better health management.
