Haemophilia

Understanding Haemophilia

Haemophilia is a rare, inherited bleeding disorder in which the blood does not clot properly. People with this condition experience prolonged bleeding after an injury or surgery, and in severe cases, they may experience spontaneous bleeding without any apparent cause. This genetic disorder is caused by the deficiency or absence of clotting factors, which are proteins in the blood that control bleeding.

Types of Haemophilia

Haemophilia primarily comes in two forms: Haemophilia A and Haemophilia B. Haemophilia A is more common and involves a deficiency of clotting factor VIII, while Haemophilia B, also known as Christmas disease, is caused by a deficiency of factor IX. Both types are passed down through families and predominantly affect males, although females can be carriers and, in rare cases, manifest mild symptoms themselves.

Symptoms and Diagnosis

The key symptoms of haemophilia include excessive bleeding from cuts or injuries, easy bruising, spontaneous bleeding into joints, and prolonged bleeding after surgery or dental procedures. Diagnosis usually involves blood tests to measure the level of clotting factors. In the UK, haemophilia is often diagnosed in infants or young children, particularly if there is a known family history of the disorder.

Treatment and Management

While there is no cure for haemophilia, it can be effectively managed with regular infusions of the deficient clotting factor to prevent and control bleeding episodes. The NHS provides comprehensive care through specialised haemophilia treatment centres across the UK, which offer patients access to haematologists, physiotherapists, and support groups. In addition to medical treatment, individuals with haemophilia are advised to avoid activities that could lead to injury and to work closely with their healthcare providers to maintain their health.

Living with Haemophilia

With proper management, most people with haemophilia can lead healthy lives. Awareness and education are crucial, both for patients and their families, to ensure early intervention and effective treatment. Additionally, advancements in gene therapy research offer promising hope for future breakthroughs. The Haemophilia Society in the UK provides invaluable resources and support for those affected by the condition, promoting awareness and advocating for patient needs.