Understanding Haemophilia

Haemophilia is a hereditary bleeding disorder characterised by the deficiency or absence of specific proteins called clotting factors, which are essential for blood clot formation.
Individuals with haemophilia may experience prolonged bleeding episodes, even from minor injuries or cuts, due to the body’s inability to form blood clots efficiently.

There are several types of haemophilia, with the most common being haemophilia A and haemophilia B, caused by deficiencies in clotting factor VIII and clotting factor IX, respectively. These clotting factors are crucial for the coagulation process, and their absence or deficiency can lead to spontaneous bleeding into joints, muscles, or other internal organs.

Haemophilia is an inherited condition, passed down from parent to child through genetic mutations on the X chromosome. As a result, haemophilia primarily affects males, while females are typically carriers of the gene mutation.

The hallmark symptom of haemophilia is excessive bleeding, which can occur spontaneously or following trauma. Common signs of haemophilia include easy bruising, prolonged bleeding from cuts or injuries, frequent nosebleeds, and deep bruises or hematomas.

Left untreated, haemophilia can lead to severe complications, including joint damage from recurrent bleeding into the joints (hemarthrosis), muscle damage, and internal bleeding, which can be life-threatening if it occurs in critical organs such as the brain.

While there is no cure for haemophilia, advancements in medical science have led to effective treatments that allow individuals with this condition to lead relatively normal lives. The primary treatment for haemophilia involves replacing the deficient clotting factor through intravenous infusion of clotting factor concentrates.

Additionally, individuals with haemophilia may benefit from preventive measures such as physical therapy to maintain joint health, lifestyle modifications to minimise the risk of injury, and genetic counselling for family planning.

Living with haemophilia presents unique challenges for individuals and families, requiring careful management and vigilance to prevent bleeding episodes and complications. Despite these challenges, many individuals with haemophilia lead fulfilling lives, pursuing their passions and aspirations with resilience and determination.