Haemophilia A

Haemophilia A is a rare inherited bleeding disorder caused by a deficiency or absence of clotting factor VIII, a protein essential for normal blood coagulation. It is usually passed through the X chromosome, making it more common in males, while females are typically carriers. The severity of the condition depends on the amount of factor VIII present in the blood.

People with Haemophilia A may experience prolonged bleeding after injuries, surgery, or dental procedures. Common symptoms include frequent nosebleeds, easy bruising, bleeding into joints and muscles, swollen painful joints, and, in severe cases, spontaneous internal bleeding without obvious injury. Repeated joint bleeding can lead to chronic pain, reduced mobility, and permanent joint damage if not treated promptly.

Diagnosis involves clotting studies, activated partial thromboplastin time (aPTT), factor VIII activity testing, and genetic analysis when necessary. Early diagnosis allows timely treatment and helps prevent complications.

Management primarily includes replacement therapy with factor VIII concentrates, either during bleeding episodes or as regular preventive treatment (prophylaxis). Newer therapies, including non-factor replacement medications and gene therapy for selected patients, have significantly improved outcomes. Regular follow-up with a haematology specialist, physiotherapy, and avoiding unnecessary trauma enable most individuals with Haemophilia A to maintain an active, healthy, and productive lifestyle.