Why do many cases of haemophilia in India go undiagnosed? Doctor explains

Haemophilia is rare, but for its victims, ignorance is a barrier. Early diagnosis driven by genetic data can allow patients to receive timely treatments that reduce long-term complications and improve quality of life.

New Delhi:

Even as diagnostic technology advances and public health awareness grows, haemophilia, a genetic bleeding disorder, remains underdiagnosed in India, with only an estimated 15-20% of cases officially diagnosed. Haemophilia is typically caused by abnormalities in genes that encode clotting factors, which are proteins required for blood coagulation. It appears as prolonged or spontaneous bleeding episodes. The chronic nature of the disorder takes its silent toll on individuals and families, greatly impacting the quality of life of patients and families. 

Haemophilia is usually inherited in an X-linked recessive pattern, whereby the mutated gene causing the disease is on the X chromosome. Since males have one X and one Y chromosome, a single defective gene on the X chromosome can cause the disease. Women, on the other hand, have two X chromosomes and are thus generally carriers, but not always symptom-free. Some carriers may develop mild to moderate symptoms like heavy menstrual bleeding or postoperative or postpartum bleeding. A diagnosis followed by regular focused therapy can help to avoid bleeding and reduce the risk of complications. 

Statistics from the National Library of Medicine indicate that the incidence of Haemophilia A in India is approximately 4 per 100,000, whereas Haemophilia B is 0.1 per 100,000. Despite being a rare condition, India has the world’s second-highest burden of haemophilia.  Interestingly, about one-third of all cases of haemophilia result from de novo or spontaneous mutations, with no previous family history of the condition. This complicates diagnosis even further in families and areas with reduced accessibility to genetic testing and specialist services. These cases can easily remain undiagnosed or be misinterpreted as other conditions early on, with the onset of unexplained bruising, joint pain, or recurrent nosebleeds. 

India has more than 70,000 estimated cases of haemophilia, but fewer than 20,000 are registered and diagnosed officially. This disparity reflects a systemic issue: low awareness, lack of screening programs, limited specialist care access, and social stigma for bleeding disorders. Compared to many Western nations, where higher diagnosis and treatment rates are reported because of organised national registries and early genetic screening procedures, India’s system falls behind.

Genetic Testing and Counselling

When we spoke to Thenral S. Geetha, Principal Scientist, MedGenome, she said that untreated haemophilia affects not only the health of the individual but also impacts education, employment, and quality of life. Children with untreated haemophilia typically have joint bleeds, leading to chronic pain and mobility issues. Adults have repeated hospitalisations and are unable to maintain stable employment. It all adds up in terms of a heavy emotional and financial burden on families. This is where genetic testing and counselling can make a difference. 

For those families with a bleeding disorder history or even a single case diagnosed, genetic testing can determine carriers, estimate the risk of future pregnancies, and begin early diagnosis in infants. Even in cases with an occasional mutation, having information regarding the genetic basis makes clinicians individualise treatment and provide required support to the family. Genetic counselling further aids individuals and families in navigating the process, helping them comprehend the genetic information and providing emotional support, which enables them to make well-informed decisions.

Besides, preimplantation genetic diagnosis (PGD) and prenatal screening are available now in India and may help guide reproductive decisions in couples. However, the choices remain poorly exploited due to a lack of access and knowledge, especially in areas distant from towns.

It will take a multi-faceted approach to address the estimated haemophilia burden in India:

• Encourage paediatricians and general practitioners to be vigilant for early warning signs.
• Incorporation of genetic testing and counselling into public health programmes, particularly among high-risk families.
• Improved access to specialist haemophilia treatment centres and the creation of regional registries.
• Encouraging community action and education to de-stigmatise bleeding disorders.

Advances in targeted therapy, notably breakthroughs in gene therapy, offer new treatment alternatives for haemophilia patients.

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