World Haemophilia Day: Why thousands remain undiagnosed and how early detection can save lives

Every year on World Haemophilia Day, doctors and patients try to draw attention to a condition that often goes unnoticed until it causes real harm. Haemophilia is not rare in the strict sense, yet it is frequently missed, especially in countries like India. Many families live with it for years without a diagnosis, mistaking its signs for everyday injuries.

This day is not just about awareness. It is about helping people spot early warning signs, seek timely care, and understand that with the right treatment, life can still move forward with confidence.

What exactly is haemophilia?

Haemophilia is a disorder where the blood does not clot properly. In simple terms, when a person gets injured, the body struggles to stop the bleeding.

As Dr Akash Khandelwal explains, “Haemophilia is a genetic bleeding disorder, which means the blood doesn’t clot as it should because the body is missing, or has very low levels of, certain clotting factors.”

In a healthy body, clotting factors and platelets work together to form a stable clot. But here, that process breaks down. So even a small cut may bleed longer than usual. In some cases, bleeding happens inside the body without any visible injury.

To understand the scale, the World Health Organization notes that haemophilia affects thousands worldwide, though many remain undiagnosed.

“Haemophilia care in India has evolved significantly over the years, driven by a deeper understanding of the disease and its management. We have moved from an era of plasma-based treatments like FFP and cryoprecipitate to a much more advanced therapeutic landscape, with greater availability of clotting factors and newer treatment options that are improving patient outcomes. Importantly, longstanding misconceptions—such as concerns around inhibitors with prophylaxis have reduced over time, alongside a growing recognition of the benefits of preventive therapy in reducing complications and improving quality of life. The availability of prenatal testing has also helped alleviate uncertainty for families, enabling informed decisions much earlier in the care journey," explained Dr Tulika Seth, Professor of Haematology, AIIMS, New Delhi.

Why does it happen and who is at risk?

Haemophilia is not something that develops later due to lifestyle. It is inherited.

Dr Khandelwal puts it simply, “This condition usually runs in families and is seen more often in males, while females may carry it without having major symptoms.”

The gene responsible for haemophilia sits on the X chromosome. Since males have only one X chromosome, they are more likely to show symptoms. Females, with two X chromosomes, often act as carriers.

A key point often missed in India is tracing family history. A maternal uncle with unexplained bleeding or an early death after an injury can be an important clue.

How does it affect daily life?

Haemophilia is not just about visible bleeding. The real damage often happens silently inside joints and muscles.

Dr Geeta Suri Sharma explains, “Joint damage in haemophilia usually does not result from a single major injury. Instead, it develops over time due to repeated, often unnoticed bleeding into the joints.”

This repeated bleeding can turn a normal joint into what doctors call a “target joint,” especially when it bleeds multiple times within months. Over time, this leads to pain, stiffness, and even long-term disability.

She adds, “Physiotherapy helps maintain movement, restore strength after bleeds, and improve muscle support around commonly affected joints such as the ankles, knees, and elbows.”

That means treatment is not just about stopping bleeding. It is also about helping the body move safely again.

The invisible crisis in India

The numbers tell a worrying story. According to Dr Dharma Choudhary, a large percentage of cases remain undiagnosed.

He points out, “For every four people living with haemophilia, only one knows they have it. The other three—the ‘invisible’ 60%—are often children suffering from swollen joints or young men who bleed dangerously after a simple tooth extraction.”

This gap is not because treatment does not exist. It is because the early signs are often ignored. A swollen knee is seen as a sports injury. A long nosebleed is dismissed as weather-related.

Some simple signs to watch:

• Bleeding that does not stop easily
• Frequent bruising
• Swollen joints without major injury
• Bleeding after dental work

Recognising these signs early can prevent permanent damage.

Can haemophilia be managed?

Yes, and this is where the conversation shifts from fear to control.


Dr Khandelwal notes, “The good news is that preventive care can make a big difference.”

Modern treatment includes clotting factor replacement and, more recently, gene therapy. Patients are advised to:

• Avoid high-risk injuries
• Stay cautious with certain medicines
• Maintain oral health
• Stay aware of early symptoms

Regular follow-ups and physiotherapy also play a major role in maintaining quality of life.

India has made progress too. Many state hospitals now provide free treatment under public health schemes, making care more accessible than before.

Why awareness matters more than ever

Haemophilia does not always announce itself loudly. It often whispers through small, repeated signs.

When families understand those signals, they can act early. When communities talk openly, stigma reduces. And when diagnosis improves, lives change.

As Dr Choudhary stresses, awareness alone can shift outcomes. Finding the “invisible” patients is the first step toward giving them a normal, active life.


Medical experts consulted

This article includes expert inputs shared with TOI Health by:

Dr Dharma Choudhary, Chairman, Bone Marrow Transplant, Haematology, Hematology Oncology, BLK - Max Super Speciality.

Dr Geeta Suri Sharma, Senior Physiotherapist, Hemophilia Comprehensive Care Centre, King George Medical University, Lucknow.

Dr Akash Khandelwal, Consultant - Hematology, Haemato-Oncology, Kailash Hospital, Noida.

Dr Tulika Seth, Professor of Haematology, AIIMS, New Delhi.

Inputs were used to highlight why haemophilia often goes undiagnosed, the risks of missing early warning signs, and how timely detection along with proper medical guidance can help prevent complications and save lives.