When I founded a pathology lab and diagnostics centre in 1985, the field of diagnostics in India was at an inflection point. Disease burden was rising, but the scientific tools to meet it were lagging, laboratory techniques were outdated, cutting-edge equipments had not yet entered the Indian market. The imperative was not simply to build a laboratory, it was to bring rigorous, modern diagnostic science to bear on a system that desperately needed it. Forty years on, that imperative is unchanged. But the diseases demand more from us now, and so does the science.
Even with all of the advancements made, haemophilia, a hereditary bleeding disorder, remains one of India's most underdiagnosed conditions. Not because the diagnostic tools are unavailable, or because clinical expertise does not exist, but because widespread, systematic screening has not yet been built into how we approach inherited blood disorders in this country. Closing that gap begins with diagnostics.
India is estimated to be home to 80,000 and 100,000 patients with severe haemophilia A. Through patient networks and treatment centers, only 27,000 to 30,000 are identified. That means close to 80% of patients with this condition remain entirely outside the formal health system.
In haemophilia, the damage begins when the first bleed goes uninvestigated; when no one orders the test, and the bruising is attributed to something else. As a diagnostician, that is the moment I keep returning to, not the surgery that follows years later, but the basic screening test that could have supported a better outcome.
When the test is delayed, or does not happen at all, joints absorb the damage silently. Close to 90% of patients with severe haemophilia develop progressive damage to major joints by their 20s and 30s, with many eventually requiring surgical intervention. These interventions ultimately cost the patients and the health system far more than the diagnostic tests that could have caught it earlier.
{{/usCountry}}When the test is delayed, or does not happen at all, joints absorb the damage silently. Close to 90% of patients with severe haemophilia develop progressive damage to major joints by their 20s and 30s, with many eventually requiring surgical intervention. These interventions ultimately cost the patients and the health system far more than the diagnostic tests that could have caught it earlier.
{{/usCountry}}The stakes are highest at birth. Nearly one in 10 infants born with hemophilia require treatment within 24 hours of birth. Premature infants with haemophilia face a 33-fold higher risk of bleeding in the brains compared to unaffected newborns, and 20% of those infants do not survive.
These are not abstract statistics. They represent a window of intervention that opens briefly and, if missed, cannot be recovered. Early and accurate diagnosis is the first critical intervention. It determines whether a family can prepare, whether a clinician can intervene in time, and whether a life-altering complication can be prevented.
Because two out of three haemophilia cases are inherited, a diagnosis in one family member can protect the next. The diagnostic act is also a preventive one.
A blood test at any well-equipped laboratory can confirm a haemophilia diagnosis within hours. For a newborn from a known haemophilia family, testing at birth means the clinical team has an answer before the condition takes hold. Several countries have built this into their newborn screening programmes. Monitoring how a patient responds to treatment, catching early signs the therapy is losing effect, adjusting before the next bleed, all of this is possible. It is proven, and needs to happen at the scale this disease demands.
For most of my career, the standard of care was intravenous infusions of the clotting protein the body could not produce, administered almost every alternate day. It kept patients alive, but it kept them tethered to clinics, and for up to three in 10 patients, the body eventually turned against the treatment entirely.
Non-factor therapies have changed what is possible. A single injection, once a month, effective even in patients where earlier treatment had failed. When given early enough in childhood, these therapies can protect joints that the previous generation simply could not expect to keep. A child diagnosed at birth and started on preventive treatment today has a genuine shot at a near-normal life. That was not a realistic outcome a generation ago. Gene therapy, still maturing, points toward a future where a single intervention may be enough. The science has moved fast.
India has shown it can build the architecture to address inherited and neglected conditions at scale, and hemophilia deserves the same systematic attention. That means three concrete steps: First, a national patient registry to establish the true burden and enable coordinated care. Second, standard treatment guidance that reflect current clinical evidence and give every physician who sees these patients a clear, consistent framework for care. Third, access for patients to newer therapies such as non-factor therapies, so that patients diagnosed today have access to the treatments that can enable them to have a stronger chance at a near-normal life.
The diagnostic capacity exists. The clinical expertise exists. The therapies exist. Whatwe need now is the guiding architecture to connect them.
I founded a laboratory to close the distance between a symptom and a diagnosis. That purpose has not changed. But the work does not end with a test result. It ends when the patient has access to a continuum of care.
(The views expressed are personal)
This article is authored by Dr Navin Dang, chairman & founder, Dr. Dangs Lab.