The difference between India’s estimated and actual diagnosed cases points to a large number of undiagnosed haemophilia patients. Image used for representational purposes only
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Haemophilia is an inherited, rare bleeding disorder in which the blood fails to clot due to a lack or deficiency of clotting factors, most often Factor VIII in Haemophilia A. That means even small injuries can cause excessive bleeding. But more seriously, spontaneous internal bleeding can occur, usually in joints and muscles, which is excruciatingly painful and can cause chronic permanent disability. A bleed can happen even in the brain, without any trauma, which can be very dangerous and even life threatening.
Challenges in diagnosis
The difference between India’s estimated and actual diagnosed cases points to a large number of undiagnosed haemophilia patients. In India, the expected number of haemophilia cases is around 1 to 1.5 lakh, based on a prevalence of 1 in 10,000. In a population of 1.4 billion however, we have identified only about 29,000 patients: just 20% percent of estimated cases. This is due to lack of awareness, limited diagnostic facilities, and socio-economic barriers. It put patients at risk of bleeding after minor trauma or surgery, and makes them vulnerable to disabilities. Alarmingly, each untreated bleed is estimated to reduce life expectancy by around 16 days. Imagine how debilitating this could be in patients who have chronic bleeds, and a high annual bleed rate. Without early diagnosis, proactive care is a socio-economic challenge leading to school absenteeism, unemployment, and loss of productivity.
A seismic shift
Over the past few years, the landscape of haemophilia care has experienced a seismic shift. What started as a reaction to treating a painful bleed has now moved to proactively preventing bleeds entirely, with regular replacement therapy of the deficient clotting factors (prophylaxis). Today, care is moving towards more advanced approaches to rebalancing the body’s clotting system, and eventually, to restoring it altogether. This change redefines what is possible with haemophilia treatment. It takes us closer to a day when “zero bleeds” are not only a goal, they are an achievable reality, allowing individuals with haemophilia to live freely, lead more active lifestyles and overall, have better quality of lives.
Understanding prophylaxis or regular replacement
Prophylaxis or regular replacement plays a revolutionary role in the treatment of haemophilia, specifically in enhancing patient outcomes and quality of life. In contrast to on-demand therapy, which is used to treat bleeds after they have happened, and already caused damage to the joint or muscle etc., in prophylactic treatment the aim is to give treatment to prevent a bleed from even happening. This strategy can use frequent clotting factor intravenous injections or the newer, non-factor products by a simpler injection in the skin (subcutaneous route injection). This is the only way to ensure good joint health and prevent deformity and disability.
Prophylaxis or regular replacement is regarded internationally as the gold standard treatment for haemophilia. This preventive method has numerous advantages over on-demand therapy. These include:
Prevents joint damage: Recurrent unpredictable bleeds, particularly into joints, are a symptom of untreated or inadequately treated haemophilia. On-demand treatment permits bleeds to develop and gives treatment only afterwards, which makes it too late to avoid damage in many cases. With prophylaxis, clotting factor levels are continuously maintained, significantly reducing or even eliminating joint bleeds, thus maintaining long-term mobility and limiting disability.
Enhances quality of life: Persons with haemophilia on regular replacement have fewer bleeds, less pain, and more independence in their daily activities. Children can go to school normally and engage in physical activities, whereas adults are able to keep up with work routines and social activities—something that is very difficult while under on-demand therapy as bleeding is unpredictable.
Reduces burden on healthcare ecosystems: Prophylaxis reduces the number of spontaneous bleeds that need urgent care or hospitalisation. In the long term, this decreases healthcare demands both on patients and the system and reduces the overall cost of treatment when accounting for long-term complications.
Approximately 90% of persons with haemophilia are on prophylaxis in developed nations, resulting in near-normal life expectancy and uninterrupted day to day functioning. However, on-demand therapy is still primarily prevalent in India. However, some States have started regular replacement in children less than 10 years old.
Ensuring awareness and wider access to prophylaxis through policy advocacy, and public education is critical to ending the crisis of under-diagnosis and avoiding preventable disabilities, while allowing haemophilia patients to live life free of fear and pain.
(Dr. Tulika Seth is professor, haematology, AIIMS Delhi. drtulikaseth@gmail.com)
Published – August 08, 2025 07:00 am IST
