ICMR's NIIH develops simple point of care test for haemophilia A, Von Willebrand Disease

New Delhi, Jun 23 (PTI) A simple and affordable point-of-care test kit has been indigenously developed by the National Institute of Immunohaematology for early diagnosis of genetic bleeding disorders haemophilia A and Von Willebrand Disease.

The test offers a promising alternative to the current standard of care which relies on complex and costly diagnostic procedures limited to very few tertiary facilities in India, Dr Rucha Patil, scientist at the National Institute of Immunohaematology (NIIH) in Mumbai, said.

Bleeding disorders such as haemophilia A and Von Willebrand Disease (VWD) represent significant public health challenges in India due to underdiagnosis and limited access to diagnostic facilities.

The point-of-care (PoC) test costs just Rs 582 while the current lab-based tests cost around Rs 2,086, Dr Bipin Kulkarni, scientist, at NIIH, said.

The test kit was invented by former scientist Dr Shrimati Shetty and former ICMR postdoctoral fellow from NIIH Dr. Priyanka Kasatkar.

The World Federation for Haemophilia has shown interest in procuring these tests for deployment in countries where the disease is prevalent, Dr Manisha Madkaikar, director of NIIH, Mumbai and Centre for Research Management and Control of Haemoglobinopathies (CRHCM) in Nagpur under the ICMR, said.

"For India, this new rapid, visual card testing device has made testing possible even at primary health centres bringing diagnosis closer to the people who need it most. By using these PoC kits at PHCs and other local health centres, India can find and treat these bleeding disorders early, improve patient outcomes, and cut healthcare costs dramatically. This is a major step toward improving care for one of the country's most neglected health issues", Dr Madkaikar said.

The Health Technology Assessment (HTA) analysis team of ICMR and Department of Health Research (DHR) recommended that the PoC kits for haemophilia A and VWD are suitable for primary facility-based screening and suggested integration of the test into the national health programs at primary healthcare level.

This is currently being implemented in different states, Dr Kulkarni said.

"This kit could help detect over 83,000 undiagnosed cases", he said, adding, "It would save the health system about Rs 42 crore, which is three times cheaper than the current method".

Haemophilia A and VWD are the two most common inherited bleeding disorders. People with these conditions often suffer from joint swelling, easy bruising, muscle bleeding, and in women, heavy menstrual bleeding or complications during childbirth.

"India is estimated to have 1.5 lakh people with haemophilia, but only about 27,000 are officially diagnosed," Dr Patil said.

"Incidence of haemophilia A is 1 in 5,000 male births. VWD is known to affect 1 per cent of general population," she said.

"Haemophilia A is passed down in families through the X chromosome (X linked recessive disorder)", Dr Patil explained.

"Boys are usually the ones who have the disease, because they have only one X chromosome. If that X has the faulty gene, they don't have a 'backup' and will show symptoms. Girls usually have two X chromosomes, so if one X has the faulty gene, the other X can often make up for it. These girls are called 'carriers'," he said.

"The VWD is an autosomal disease. This means both males and females can get it equally. It is not linked to gender like haemophilia," Dr Patil added. PTI PLB DV DV