Haemophilia: How to recognise this rare bleeding disorder?

One of the greatest joys for new parents is watching their child grow and learn new skills. From crawling for the first time to taking their first steps, every milestone is significant. However, sometimes, this joy is short-lived when a child sustains severe bruises from minor bumps or falls. These could be the first signs of haemophilia, a rare inherited bleeding disorder.

Haemophilia affects almost 815,100 individuals globally, of which 276,900 cases are severe. Moreover, 75% of individuals with the condition live in developing countries. In India, the condition has an incidence rate of one in 10,000 births. According to the World Federation of Haemophilia, India had the highest number of cases in 2023. Given the number of cases in the country, it is important to create awareness about this condition to take proactive steps.

What is haemophilia?

Haemophilia is a rare bleeding disorder that affects clotting. Usually, when an individual sustains a wound, specific proteins called clotting factors, along with platelets (a type of blood cell), work together to stop bleeding. However, patients with haemophilia are unable to produce adequate amounts of these proteins due to faulty genes, causing them to bleed uncontrollably. The severity is determined by factor activity, with mild being more than 5% to 40% of normal activity, moderate being 1% to 5%, and severe being less than 1%.

The symptoms include spontaneous bleeding, bruising or bleeding easily, developing large bruises, and bleeding for an unusually long time. In severe cases, bleeding occurs in joints, causing swelling and inflammation. The condition can also affect several organs. In severe cases, bleeding can occur inside the skull, which can be life-threatening. While the majority of cases are inherited, around 30% occur without any family history.

Diagnosis and treatment

Early diagnosis is critical for effectively managing haemophilia and delaying complications. Diagnosing the condition involves understanding the patient’s family history, followed by a thorough physical checkup. The doctor may also perform specific tests, such as a complete blood count, a prothrombin time test, a clotting factor test, and an activated partial thromboplastin time test. These tests are meant to measure clotting time and assess clotting factors.

• In the past, managing haemophilia required regular blood transfusions of plasma in case of episodic bleeding. However, with advancements, the focus has shifted towards prevention and control. Administering prophylaxis or the missing clotting factors to prevent these episodes has become a highly effective method of management.
• It provides several benefits, such as reducing and preventing bleeding episodes and reducing the risk of complications. Other than factor concentrates, there are medications available that encourage clotting by mimicking these clotting factors, thereby reducing bleeding. Furthermore, advanced treatments such as gene therapy and extended half-life products are making it more convenient for patients to manage the condition.
• Even though haemophilia is a rare condition, awareness is necessary to manage the condition. Recognising the symptoms and utilising advanced treatment options such as prophylaxis can transform haemophilia from a life-threatening condition to a manageable one. With ongoing research and evolving therapies, the future for individuals with haemophilia continues to improve, offering hope and a better quality of life.