World Haemophilia Day: Experts call for proactive prophylaxis and robust infrastructure to transform care in India

On World Haemophilia Day, medical experts have called for a decisive shift from delayed diagnosis to early detection and preventive care, warning that thousands of patients continue to suffer avoidable complications due to gaps in awareness and access.

With haemophilia affecting an estimated 20,000–1,36,000 people in India, yet with only a minority formally diagnosed—experts emphasised bridging gaps in infrastructure and ensuring equitable access across urban and rural settings.

Haemophilia, a rare X‑linked congenital bleeding disorder, is characterised by deficiency of clotting factor VIII (haemophilia A, accounting for 80–85% of cases), factor IX (haemophilia B), or factor XI (haemophilia C). It is usually inherited through an X chromosome with an F8 or F9 gene mutation, though about 30% of cases arise from spontaneous genetic variants. The disease predominantly affects males who inherit an affected maternal X chromosome; a female with one affected X chromosome is called a carrier and in rare instances both X chromosomes can be affected.

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On the basis of clotting‑factor levels, haemophilia is classified as severe (<1%), moderate (1–5%), or mild (5–40%).

The diagnostic challenge: Recognising the red flags

A primary hurdle in managing haemophilia is the delay in diagnosis, often caused by a lack of awareness and the subtle presentation of mild cases.

Dr. Savitha Anil Kumar, Laboratory Director at Apollo Hospitals, Bangalore, explains that the disorder is characterized by a deficiency in clotting factors, specifically Factor VIII (Haemophilia A), Factor IX (Haemophilia B), or Factor XI (Haemophilia C).

"Lack of family history, mild symptoms, and misinterpreted initial diagnoses in early childhood are major causes for late detection," says Dr. Kumar. She emphasizes that families must watch for "medical red flags," such as undue bleeding that lasts over 24 hours, bleeding from two or more anatomic sites, or painful swelling due to hematoma formation.

Expanding the scope: Women and neurological risks

Contrary to the common myth that haemophilia only affects males, experts stressed that women can also be symptomatic. Dr. Parul Bhatt, Professor and Head of the Medicine Department at GMERS Medical College, Sola (Ahmedabad) noted that bleeding disorders are often overlooked in women, presenting as unexplained menorrhagia (heavy menstrual bleeding).

"The term 'rare disease' is becoming a misnomer in terms of real-world impact," Dr. Bhatt said "We are shifting toward early detection through prenatal screening and assessing high-risk families at birth. However, we still need more coagulation laboratories and trained systems at local levels to prevent complications."

The stakes are highest when bleeding occurs in the central nervous system. Dr. Praveen Gupta, Chairman of the Marengo Asia International Institute of Neuro & Spine (Gurugram) warned that intracranial bleeding can lead to permanent cognitive loss, seizures, or motor loss.

"Even mild trauma can trigger life-threatening brain bleeds," Dr. Gupta warned. "Timely identification of symptoms like sudden weakness or changes in consciousness is essential. These complications must be managed through a multidisciplinary approach involving both neurologists and haematologists."

From episodic to proactive: The future of treatment

The consensus among specialists is a move toward prophylaxis—regular preventive treatment to prevent bleeds before they occur—rather than "on-demand" care.

Dr. Tulika Seth, Professor of Haematology at AIIMS (New Delhi) highlighted the evolution of therapy: "We have moved from plasma-based treatments to an advanced therapeutic landscape with greater availability of clotting factors. Longstanding concerns around inhibitors with prophylaxis have reduced, and we are seeing the benefits of preventive therapy in improving quality of life."

Echoing this sentiment, Dr. Sheikh Bilal, Head of Department, Pathology at Government Medical College, (Srinagar) emphasised that early intervention can allow patients to lead near-normal lives.

"The biggest barrier continues to be awareness and diagnostic readiness," said Dr. Bilal. "A proactive prophylaxis approach significantly reduces hospitalizations, school absenteeism, and caregiver burden. Strengthening laboratory infrastructure at the district level is essential to ensure effective treatment reaches those in need."