On most days, eleven-year-old Siddharth M, from Pune, watches other children play from the sidelines. A fall during a cricket match last year left his knee swollen for weeks, not because of the injury itself, but because his blood would not clot. What followed was a cycle of hospital visits, missed school days, and mounting anxiety for his family.
For him, and thousands like him across India, haemophilia, a genetic bleeding disorder caused by the deficiency of clotting factors, is not just a medical condition, but a constant negotiation with risk.
It often goes undiagnosed in India until repeated bleeding episodes raise an alarm.
In many cases, the first signs, which are prolonged bleeding after minor injuries, frequent bruising, or joint swelling, are dismissed or misunderstood. By the time a diagnosis is made, some patients have already developed joint damage.
India is estimated to have one of the largest populations of people with haemophilia globally, yet a significant number remain outside the formal health care system.
For patients like Siddharth, treatment is not a one-time intervention but a lifelong requirement. The standard of care, that is, regular infusion of clotting factors to prevent bleeding, can dramatically improve quality of life, but access remains uneven.
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In government hospitals, factor concentrates are often limited or inconsistently available. In private care, costs can run into thousands per dose, placing an enormous burden on families.
As a result, many patients receive treatment only during emergencies, increasing the risk of long-term complications.
"Medically speaking, this diagnosis occurs in early childhood with a series of bleeding episodes, especially joint bleeding, and in some cases can have life-threatening events that happen due to the condition, like intracranial or intra-abdominal bleeds. Early diagnosis and adequate treatment are important to avoid complications like joint destruction and limb problems. Another vital aspect that needs attention is the inability of patients to gain access to diagnostic centers. Basic screenings might be accessible; however, the confirmation of coagulation disorders might take time owing to the shortage of resources. Also, hemophilia is poorly recognized among women due to non-typical symptoms," says Dr. Subhaprakash Sanyal, Director, Hemato-Oncology & BMT, Fortis Hospital Mulund.
For children, haemophilia reshapes everyday experiences. Activities like running, cycling, or playing contact sports are often discouraged, thereby leading parents to walk a tightrope trying to protect their child without isolating them.
Repeated joint bleeds, particularly in knees and elbows, can lead to chronic pain and reduced mobility, sometimes even before adulthood, say experts. They emphasise that alongside medication, physiotherapy and guided physical activity are crucial.
Though haemophilia primarily affects males, women are not untouched by the disorder. Many are carriers and can experience significant bleeding symptoms themselves, often without recognition.
Heavy menstrual bleeding, excessive blood loss during childbirth, and surgical complications frequently go unlinked to underlying clotting disorders, pointing to a major gap in awareness and diagnosis.
India has taken steps to improve haemophilia care, with several states offering free clotting factor support and treatment programmes. Yet, access varies widely depending on geography.
Advocates are pushing for a stronger national framework, including a comprehensive patient registry, better supply chains, and integration into rare disease policies.
Globally, advances such as longer-acting clotting factors and gene therapy are transforming haemophilia care, offering the possibility of fewer injections. In India, however, these remain largely out of reach.
India’s haemophilia care landscape may also be on the cusp of a breakthrough. In a first-in-human study, researchers at the Centre for Stem Cell Research (CSCR), CMC Vellore, a translational unit of BRIC-inStem, have demonstrated the potential of lentiviral vector-based gene therapy for severe Haemophilia A.
Supported by the Department of Biotechnology, the study involved five patients who received autologous haematopoietic stem cells engineered to produce Factor VIII.
Over a cumulative follow-up of 81 months, all participants recorded an annualised bleeding rate of zero, with sustained Factor VIII production, effectively eliminating the need for repeated infusions.
Published in the New England Journal of Medicine, the findings are being seen as a significant step toward making transformative, potentially one-time therapies viable even in low-resource settings.
A recent multicentre analysis of Indian patients from the World Bleeding Disorders Registry (WBDR) underscores just how wide the care gap remains.
The study, led by Dr Nita Radhakrishnan, analysed data from 1,780 persons with haemophilia across six centres and found that while India has made strides in diagnosis, treatment outcomes lag sharply behind higher-income countries.
The median age at diagnosis for severe haemophilia was 60 months, significantly later than in wealthier settings, and only 7 per cent of patients received preventive (prophylactic) therapy, compared to over 60 per cent in high-income countries.
This translated into higher bleeding rates and greater joint damage, with nearly one-third of patients reporting target joints. The study also flagged critical gaps in monitoring, with just 2 per cent of patients tested for inhibitors in the past year.
Published as part of global benchmarking efforts, the findings highlight a stark reality that access to consistent, preventive care in India remains limited, reinforcing the need for systemic expansion of treatment coverage.
