Haemophilia B

Haemophilia B is a rare inherited bleeding disorder caused by a deficiency or reduced activity of clotting factor IX. It is sometimes called Christmas disease and primarily affects males, while females are more commonly carriers of the responsible genetic change. Because factor IX is essential for normal blood clot formation, people with Haemophilia B may experience prolonged or recurrent bleeding.
The severity of the condition depends on the amount of functional factor IX in the blood. Mild cases may become noticeable after surgery, dental procedures, or significant injuries, whereas severe cases can cause spontaneous bleeding. Common symptoms include prolonged bleeding from cuts, frequent bruising, nosebleeds, blood in urine or stools, and excessive bleeding after injuries. Repeated bleeding into joints and muscles can cause pain, swelling, stiffness, and long-term joint damage.

Diagnosis usually involves blood tests that assess clotting function and measure factor IX activity. Genetic testing may also help identify the underlying mutation and support family screening.

Treatment focuses on preventing and controlling bleeding. Factor IX replacement therapy is a standard approach, while newer extended-half-life products may reduce the frequency of infusions. Comprehensive care, prompt treatment of bleeding episodes, regular monitoring, and appropriate precautions can help people with Haemophilia B maintain an active and healthy life.