Dr Vishnu Sharma, HOD of Haematology at SMS Medical College & Hospital, Jaipur, emphasizes the critical importance of early diagnosis and holistic care in managing haemophilia- a rare inherited bleeding disorder that affects an estimated 136,000 people in India, yet only 21,000-29,000 are formally registered. He explores how delayed diagnosis leads to preventable joint damage and long-term disability, while highlighting advances in prophylaxis, extended half-life clotting factors, and non-factor therapies that enable simpler home-based treatment. Dr Sharma calls for a coordinated, patient-centric approach integrating physiotherapy, community-level identification, and equitable access to multidisciplinary care to ensure people with haemophilia can lead active, independent lives.
For many patients in India, the difference between long-term disability and a life of independence often comes down to one critical factor: timely diagnosis. While advances in medical science have made it possible to effectively prevent bleeding episodes in patients with haemophilia, in many cases, the condition remains unrecognised in its early stages. By the time medical attention is sought, the impact may already be significant.
Haemophilia is a rare, inherited bleeding disorder where blood doesn’t clot properly due to missing clotting factors. Repeated bleeds, especially in joints like the knees, elbows, and ankles, can cause chronic pain, joint damage, and long-term disability. Beyond physical health, it can disrupt education, employment, and independence, creating significant emotional and financial strain on families.
In India, this burden is further compounded by delayed diagnosis. An estimated 136,000 people are living with haemophilia, yet only 21,000- 29,000 are formally registered. This gap means that many individuals remain undiagnosed or are diagnosed only after complications have already set in. Severe haemophilia is often identified around the age of five, by which time preventable joint damage may have already occurred.
Early diagnosis and prompt treatment are therefore critical to change the long-term trajectory of the condition. With advances in treatment, haemophilia care has evolved from managing bleeds to preventing them. Prophylaxis, involving regular replacement of clotting factors, can significantly reduce or even eliminate spontaneous bleeding episodes. However, uptake in India remains limited. Registry data suggest that only about 4-9% of patients receive prophylaxis, with some studies indicating that as few as 7% of severe cases are on preventive therapy, compared to over 60% in high-income countries. As a result, most patients continue to rely on on-demand treatment, addressing bleeds after they occur.
Building on this shift toward prevention, newer therapies are now addressing longstanding barriers to adherence. For instance, extended half-life clotting factors now allow for dosing once every 5- 7 days, making treatment more manageable. The availability of non-factor therapies also increases therapeutic options for the patients. These options, along with user-friendly pen-based devices, are enabling simpler, more convenient administration. This makes home therapy and self-administration also possible, allowing patients and caregivers to manage treatment independently, reducing reliance on hospital-based care.
However, preventing bleeds is only one part of the solution. Protecting joint health must also be a central part of haemophilia care as repeated joint bleeds contribute to long-term complications such as haemophilic arthropathy, a condition marked by pain, stiffness, and reduced mobility.
Overall, haemophilia care calls for a more holistic and continuous approach, one that supports patients across their entire journey. Along with prophylaxis, physiotherapy plays a key role in restoring movement after bleeds, improving muscle strength, and maintaining joint stability. Just as importantly, it enables patients to stay active safely. Many individuals with haemophilia tend to limit physical activity due to fear of injury or pain, which can further weaken joints over time. By starting early and with the right guidance, movement can become a part of the solution rather than a risk. Recognising early signs of bleeds, tracking joint health, and seeking timely medical intervention can help prevent complications before they progress.
Despite advances in treatment and the growing recognition of comprehensive care, access to such care remains uneven in India. Services are often concentrated in urban centres, and barriers such as cost, travel, and limited availability of specialised care continue to disrupt continuity. While prophylaxis is globally recognised as the standard of care, its limited uptake in India highlights a significant gap in accessibility. Support for patients with haemophilia is provided under the National Health Mission, through which the Government of India supports states and UTs in strengthening haemophilia care under their Programme Implementation Plans. For instance, Uttar Pradesh has had an expanded haemophilia treatment network since 2009, encompassing 26 treatment centres across the district and medical college hospitals. Additionally, other states such as Kerala have also introduced targeted prophylaxis programmes, significantly reduced treatment burden and improved adherence. Along with government policies, a coordinated, patient-centric approach is essential. It can strengthen early diagnosis through improved awareness, integrate haemophilia services into public health systems, enable community-level identification, and expand access to multidisciplinary care, including physiotherapy and home-based treatment.
The future of haemophilia care will be defined not just by medical innovation, but by equitable access. With early diagnosis, preventive treatment, and a holistic approach that prioritises joint health and independence, people living with haemophilia can lead active, fulfilling lives. Ensuring that this standard of care reaches every patient must now be the priority.
