- Experts urge national standard treatment guidelines for haemophilia in India to improve care
- Haemophilia remains underdiagnosed with nearly 80% of cases undetected in India
- Non-factor therapies reduce bleeding and complications but only 4% receive prophylaxis
Experts have called for the adoption of national standard treatment guidelines for haemophilia to standardise its care across India, improve early diagnosis and expand access to preventive therapies. Haemophilia, a rare genetic bleeding disorder in which blood does not clot properly, continues to remain underdiagnosed in the country, with fewer than one in five patients identified, experts said. That leaves nearly 80 per cent of cases undetected, highlighting the urgent need to strengthen awareness and screening systems, they said on World Haemophilia Day.
The condition is caused by a deficiency of clotting factor proteins, "factor VIII in haemophilia A and factor IX in haemophilia B", leading to prolonged bleeding even from minor injuries, they said While it is often inherited, nearly one-third of cases arise due to spontaneous genetic mutations, making early detection more challenging.
"In mild cases of haemophilia, sometimes a person may not be aware that they have a deficiency, and when they go for a tooth extraction or surgery, they may have a problem. It is important to know your family history and report prolonged bleeding to your doctor," said Dr Tulika Seth, Professor of Haematology at AIIMS, Delhi.
Experts noted that haemophilia is frequently misdiagnosed, with children sometimes incorrectly treated for arthritis, resulting in avoidable joint damage and, in severe cases, the need for joint replacement surgeries.
Treatment approaches in India have traditionally been reactive, with patients seeking care only after a bleeding episode, Dr Seth said.
However, recent advances have shifted the focus towards prevention. Newer non-factor therapies, administered subcutaneously, have significantly reduced bleeding frequency and long-term complications.
"These non-factor therapies are easier to administer and well accepted by patients. While gene therapy is still not widely available in India, some state governments have begun providing non-factor therapies," Dr Seth added.
Despite these advances, access to preventive treatment remains limited, with only about 4 per cent of patients in India receiving prophylaxis, compared to 80-90 per cent in high-income countries.
Dr Parul Bhatt, Professor and Head, Department of Medicine at Gujarat Medical Education & Research Society, Sola, said there is a pressing need for Indian guidelines that make prophylaxis the standard of care.
"There should be no reliance on on-demand treatment. In Gujarat, we are already practising this approach, with very few patients remaining on on-demand therapy," she said.
Experts emphasised that India-specific Standard Treatment Guidelines (STGs) would provide a uniform framework for diagnosis, treatment and long-term management, while accounting for resource constraints.
"Standardisation of care has to be based on geographic and social context. Global guidelines cannot be fully applied unless resources are equal. Prophylaxis, in any form, remains the best option to curb this problem," said Dr Joseph John, Professor and Head of Clinical Haematology at Christian Medical College, Ludhiana.
They said the adoption of STGs could significantly reduce disability, improve quality of life and ensure equitable access to care for haemophilia patients across the country.
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