Affordable Point-of-Care test revolutionizes bleeding disorder diagnosis in India
Innovative diagnostic kit for haemophilia A and Von Willebrand Disease promises early detection and cost-effective care
New Delhi: A simple and affordable point-of-care test kit for the early diagnosis of genetic bleeding disorders, haemophilia A and Von Willebrand Disease has been indigenously developed by the National Institute of Immunohaematology (NIIH). The kit costs just Rs 582, compared to around Rs 2,086 for current lab-based tests, and offers a promising alternative to the complex, costly diagnostics previously available only at select tertiary facilities. Its deployment at primary health centres could bring life-changing early detection to those most in need while dramatically reducing healthcare costs.
Dr. Rucha Patil, scientist at NIIH in Mumbai, noted that this breakthrough addresses major public health challenges in India, where underdiagnosis and limited access to diagnostic facilities have long hampered effective management of bleeding disorders. The Health Technology Assessment (HTA) team of the ICMR and the Department of Health Research (DHR) have recommended integrating the kit into national health programmes at the primary care level, a strategy that is already gaining traction across several states.
Developed by former scientist Dr. Shrimati Shetty and former ICMR postdoctoral fellow Dr. Priyanka Kasatkar, the invention has also garnered international attention. Dr. Bipin Kulkarni emphasized that the kit could help detect over 83,000 undiagnosed cases and save the health system about Rs 42 crore, being three times more cost-effective than conventional methods. Such economic and clinical benefits have attracted interest from the World Federation for Haemophilia, which is considering the procurement of these tests for global distribution.
Haemophilia A and Von Willebrand Disease rank among the most common inherited bleeding disorders. Despite an estimation of 1.5 lakh people with haemophilia in India, only about 27,000 are officially diagnosed. Dr. Patil reiterated that the incidence of haemophilia A is 1 in 5,000 male births, while Von Willebrand Disease affects roughly 1 per cent of the general population.
Explaining the genetic implications, Dr. Patil clarified that haemophilia A is an X-linked recessive disorder, meaning that boys, with their single X chromosome, are usually affected severely if the gene is faulty, while girls typically act as carriers due to the presence of a second, healthy X chromosome. In contrast, Von Willebrand Disease is autosomal, affecting both genders equally, and its clinical manifestations include joint swelling, easy bruising, muscle bleeding, and for women heavy menstrual bleeding or complications during childbirth.
