Haemophilia B

Haemophilia B is a rare inherited bleeding disorder caused by a deficiency or absence of clotting factor IX, an essential protein involved in the blood clotting process. Also known as Christmas disease, it is an X-linked genetic condition that primarily affects males, while females are usually carriers. The severity of the disorder depends on the level of factor IX activity in the bloodstream.

Individuals with Haemophilia B are prone to prolonged bleeding following injuries, surgery, or dental procedures. Common symptoms include easy bruising, frequent nosebleeds, bleeding gums, prolonged bleeding from cuts, and spontaneous bleeding into joints and muscles. Recurrent joint bleeding may cause pain, swelling, stiffness, and long-term joint damage if left untreated. Severe cases may also involve internal bleeding, which requires immediate medical attention.

Diagnosis includes a detailed medical history, coagulation screening tests, activated partial thromboplastin time (aPTT), factor IX activity measurement, and genetic testing when appropriate. Early diagnosis is important for preventing complications and planning long-term care.

Treatment mainly consists of factor IX replacement therapy, administered during bleeding episodes or as regular preventive prophylaxis. Advances such as extended half-life factor IX products and gene therapy have improved disease management for many patients. With ongoing specialist care, physiotherapy, and appropriate preventive measures, individuals with Haemophilia B can enjoy healthy, active, and fulfilling lives.