Hämophilie

Hämophilie is a rare genetic bleeding disorder that prevents blood from clotting properly. This condition is caused by a deficiency in specific proteins called clotting factors, which are essential for forming a blood clot. There are two main types: Hämophilie A, caused by a lack of clotting factor VIII, and Hämophilie B, caused by a lack of clotting factor IX. Both types are inherited in an X-linked recessive pattern, meaning they are much more common in males than females.

Symptoms of Hämophilie can range from mild to severe and typically include prolonged bleeding after injuries, spontaneous bleeding into joints and muscles, and easy bruising. In severe cases, bleeding can occur in internal organs, leading to serious health complications. Diagnosis is usually made through blood tests that measure the levels of clotting factors.

Treatment for Hämophilie involves replacing the missing clotting factor through regular infusions. This can be done proactively as a preventative measure (prophylaxis) or on demand when bleeding occurs. Advances in treatment have significantly improved the quality of life for individuals with Hämophilie, allowing them to lead more active and fulfilling lives. While there is currently no cure, ongoing research aims to develop more effective and long-lasting treatments, including gene therapy. Management requires a multidisciplinary approach involving hematologists, nurses, and physical therapists.