Haemophilia

Context

The World Health Organization has recently moved forward a resolution to improve equitable access to care for people with haemophilia.

About Haemophilia

1. Haemophilia is a rare inherited bleeding disorder in which the blood fails to clot effectively, leading to prolonged or uncontrolled bleeding.
2. The condition occurs due to deficiency of clotting factors, mainly factor VIII in Haemophilia A and factor IX in Haemophilia B, which are essential for normal blood coagulation.
3. It follows an X-linked recessive inheritance pattern, meaning it primarily affects males, while females generally act as carriers of the defective gene.
4. In some cases, the disorder can arise without any family history due to spontaneous genetic mutations, accounting for a significant proportion of cases.
5. India has the world’s second largest hemophilia burden with over 80% of cases in India remain undiagnosed.
6. Symptoms:
   1. The severity of symptoms varies, with severe cases showing frequent spontaneous bleeding, while milder forms usually present symptoms after injury, surgery, or dental procedures.
   2. Common symptoms include prolonged bleeding, easy bruising, and frequent nosebleeds, and in severe situations, bleeding may occur in vital organs such as the brain, posing serious risks.
7. Treatment:
   1. Clotting factor replacement therapy is the standard treatment used to control bleeding and for preventive care.
   2. Comprehensive care through specialized centres involving doctors, physiotherapists, and support staff helps manage complications and improve quality of life.
   3. Prophylactic treatment (regular infusions) significantly reduces bleeding episodes and prevents long-term joint damage, especially when started early.
   4. Desmopressin and antifibrinolytic drugs are used in specific cases, particularly in mild haemophilia.
   5. Non-factor therapies (e.g., emicizumab) offer newer treatment options that reduce bleeding frequency and treatment burden.
   6. Gene therapy shows promising potential by enabling the body to produce clotting factors, possibly reducing the need for repeated treatment.
   7. Despite advancements, limited access to diagnosis and treatment remains a challenge in many regions, and there is a need to strengthen health systems, supply chains, and universal healthcare coverage for effective management.