India’s push for inclusive haemophilia diagnosis and treatment access- The Week

On World Hemophilia Day this year, the theme, ‘Access for All: Women and Girls Bleed Too’, underscores the urgent need to address gender disparities in diagnosis and to care for those diagnosed with haemophilia.

Haemophilia is a genetic disorder caused by a deficiency or absence of clotting factors—proteins in the blood that control bleeding. It is usually inherited and passed down through families via the X chromosome, which is why it primarily affects males. However, females can also experience significant bleeding symptoms, often mis-attributed to normal menstrual cycles. In India, where awareness about bleeding disorders is still growing, this theme resonates deeply.

“Women with bleeding disorders often face a double burden — not only are their symptoms dismissed as “normal”, but there is also a deep-rooted clinical bias that sees haemophilia as a male-only condition. This leads to delayed or missed diagnoses, leaving many women to suffer silently without proper care or support.” explained Dr. Roshan Dikshit, Senior Consultant, Haematology & Bone Marrow Transplant at Aakash Healthcare in Delhi.

“We need to educate both healthcare providers and the public to recognize the signs early. It’s crucial to integrate screening for bleeding disorders into routine health check-ups for women and girls,” added Dr. Arushi Agarwal, Consultant – Paediatric Haematologist & Oncologist at Asian Hospital in Faridabad.

India reportedly bears the world’s second-largest population of individuals with haemophilia, with an estimated 136,000 cases of Hemophilia A. Yet, only about 21,000 are registered patients, leaving nearly 80% undiagnosed, as estimated by the World Federation of Hemophilia. This gap is attributed to limited screening capabilities and a lack of awareness among healthcare providers, experts say.

“The underdiagnosis of haemophilia in India is alarming. Without proper screening facilities and awareness, many patients remain untreated, leading to severe complications,” Dr. Dikshit said.

National guidelines for the treatment of Persons with Hemophilia (PwH) were launched last year by the Haemophilia and Health Collective of North (HHCN). These guidelines suggest innovative products like Emicizumab, now available in India, to be prophylactic to prevent the blood disorder.

Prophylactic treatment, which involves regular infusions to prevent bleeding episodes, is standard in developed countries, with adoption rates of 80-90%. In India, however, only about 4% of patients receive prophylaxis. The majority rely on on-demand therapy, addressing bleeds as they occur, which can lead to joint damage and other complications, according to an article published in cureus medical journal in April 2024.

“Worldwide, countries are moving towards advanced non-replacement therapy or prophylaxis care. Prophylaxis is essential for improving the quality of life for haemophilia patients. We must work towards making this preventive treatment accessible and affordable in India.” said Dr. Sweta Lunkad, Consultant – Hematology and Bone Marrow Transplant, Jupiter Hospital in Baner, Pune.

In a groundbreaking development, Indian researchers at the Centre for Stem Cell Research (CSCR) at the Christian Medical College (CMC), Vellore, have successfully implemented gene therapy for Hemophilia A. Five patients who underwent this therapy experienced no bleeding episodes over an extended period, marking a significant advancement in treatment.

The typical treatment for the condition requires injections at frequent intervals, with infusions of a ‘clotting factor’ to prevent bleeding. Gene therapy treatments, however, promise to be a one-time solution. A gene introduced into the body teaches it to create enough of the clotting factor that can prevent such haemorrhage.

“Gene therapy offers a promising future for haemophilia treatment in India. It has the potential to transform the lives of patients by providing a long-term solution.” added Dr. Agarwal.

THE WEEK interviewed Dr. Subhaprakash Sanyal, Director, Fortis Institute of Blood Disorders, a part of Mumbai’s Fortis hospitals.

What are your observations with regard to haemophilia cases in your practice? Has there been an increase or any particular trend?

Haemophilia is an inherited X-linked bleeding disorder, particularly affecting males. Very rarely it may affect females. Haemophilia A has coagulation factor 8 deficiency and haemophilia B has Factor 9 deficiency. It is diagnosed in early childhood—as early as 6 months—particularly children with a severe disease phenotype who present with joint bleeding. In current practice, awareness of this disorder has increased and tests for diagnosis are also more easily available, which makes early and timely diagnosis possible. This may also be the reason for increasing incidence of the disease in the country. Having said that there is also at present a high burden of patients requiring regular treatment which is a challenge in our country.

How has science processed in recent times to manage this disease?

Management of these patients starts with early diagnosis to prevent disease-related complications i.e. joint damage and life-threatening bleeding. Now, recombinant Factor 8 and 9 products are available, and need to be transfused to patients twice to thrice a week. Challenges with this therapy are IV access in young patients and the cost of products.

Share a haemophilia case which you came across that has been particularly moving for its type and complexity.

A particular case I remember is of a young boy who had haemophilia A and had developed inhibitors to the exogenous factor 8 being transfused, and had developed severe arthropathy. Unfortunately, he had to be referred to a center providing immune tolerance therapy and bypassing agents as the cost/ financial implications were high. With further advancements, we have other bypassing agents, and the most recent gene therapy trials going on are a new hope for patients.

As a doctor treating haemophilia cases, what’s on your wishlist?

As a haematologist, I hope to be able to get an early diagnosis, have more comprehensive haemophilia care centres, have better government policies and schemes to make clotting factors for these patients easily accessible, and hope to see more success in the gene therapy trials.