Bridging the Gaps in Hereditary Bleeding Disorders: Community-driven Strategies for Awareness, Diagnosis and Access to Care

Hereditary bleeding disorders, particularly haemophilia, Von Willebrand disease, sickle cell disease and thalassaemia, pose significant public health challenges in India. Despite modern medical advances, these conditions remain underdiagnosed, inadequately treated and stigmatised, especially in marginalised communities. India, with one of the world’s highest burdens of haemophilia (estimated ~136,000 individuals with haemophilia A), yet only around 21,000 are registered patients, faces a vast gap in detection and care.[1] In addition, large numbers of carriers and patients of sickle cell disease and thalassaemia are uncovered only through sporadic screening campaigns. This editorial explores how community-driven approaches leveraging grassroots health workers, non-profit organisations, government agencies and digital innovations can address gaps: awareness, diagnosis and access to care with the in goal of breaking cycles of disability and preventable suffering. Awareness: Lighting the Torch at the Community Level Training Community Health Workers (Accredited Social health Activists [ASHAs]) in rural India significantly improved early detection of bleeding disorders, with post-training knowledge levels rising from under 3% to over 90%[2] NGOs like the Hemophilia Federation (India) lead awareness campaigns, reaching tens of thousands through workshops, treatment and community education National events for World Hemophilia Day, such as those by the Department of Empowerment of Person with Disability (DEPwD), promoted inclusive awareness and addressed the under-identification of affected women and carriers.[3] Diagnosis: Strengthening the Foundations Scaling Up Diagnostic Infrastructure - A core bottleneck in India remains limited access to reliably equipped coagulation laboratories. Most district hospitals and medical colleges lack standardised screening capabilities, inhibitor testing and quality-control mechanisms, leading to misdiagnosis, delayed referrals and preventable complications: children presenting with bleed are often treated surgically before haemophilia is suspected, and nearly, 80% of cases go undiagnosed. Community-level awareness efforts must be matched with expanded laboratory capacity, especially in rural and semi-urban healthcare settings – to confirm and characterise bleeding disorders early Prenatal and Carrier Detection - Hemophilia Federation (India) (HFI), in collaboration with major centres of excellence, has been driving carrier detection and prenatal diagnostic (PND) services since at least 2010. Roughly 100–150 families undergo carrier testing each year, with equal numbers receiving PND and counselling. These interventions are often subsidised or supported through Corporate Social Responsibility (CSR) funding to make them affordable to economically vulnerable families. Such genetic screening is especially vital in areas with high sickle cell and thalassaemia burden, where premarital and antenatal detection can prevent new cases across generations Mass Carrier Screening Campaigns - Recent mass screening efforts – for example, in Nagpur and parts of Maharashtra have tested over 130,000 individuals, detecting 3.6% as sickle cell carriers, alongside hundreds of new sickle cell and thalassaemia patients identified. Daga Memorial Women’s Hospital in Nagpur screens nearly 10,000 pregnant women annually, identifying about 5% as carriers and linking them to genetic counselling and potential prenatal diagnosis support funded through CSR partnerships.[4] These community-wide screening ventures, integrated with public and private healthcare actors, illustrate the scale needed for effective prevention strategies. Access to Care: Ensuring Treatment and Support NGOs like the Hemophilia Federation provide subsidised factor therapy,[5] moving treatment away from unsafe plasma products. Some states now offer free treatment through public hospitals While prophylaxis is the global standard, only about 4% of Indian patients use it due to cost. Newer treatments like Emicizumab are available, but access remains limited Holistic support through physiotherapy and counselling addresses the physical disability and social stigma caused by bleeding disorders, improving mobility and quality of life. Innovations: Leveraging Digital and Tech- enabled Tools Telemedicine and Remote Screening Models - AIIMSNagpur’s Tele Special Newborn Care Units (SNCUs) program, launched in remote tribal districts like Melghat, demonstrates how digital innovation can overcome geographic and resource barriers. Using Internet of Things (IoT) enabled devices, 360-degree cameras and live dashboards, specialists remotely guide and train staff at subdistrict hospitals, cutting neonatal mortality by half and strengthening community trust in public health services. Parallel expansion plan includes establishing National Inherited Diseases Action Network (NIDAN) centres to screen pregnant women for sickle cell and thalassaemia, and newborn metabolic disorders – models potentially extendable to haemophilia and other inherited conditions. Mobile, LowCost Diagnostic Technology - Emerging smartphonebased microscopy with artificial intelligence analysis (e.g. deeplearning systems to detect sickle cells) offers high sensitivity (~98%) at low cost in resourceconstrained settings. Similar innovations could be adapted for haemophilia screening in peripheral laboratories or mobile camps. Key Challenges and Gaps Despite these advances, numerous structural and systemic gaps remain: Underdiagnosis: Up to 80% of haemophilia and bleeding disorder cases remain undetected due to low awareness and lack of diagnostic access Gender bias: Women and girl carriers often go unrecognised; symptomatic girls are misdiagnosed because haemophilia is widely perceived as a male-only disease Policy and governance: National guidelines are emerging, but implementation and standardisation across states remain inconsistent. There is strong need for integration into public health programs like the National Health Mission. The key Recommendation are provided in Table 1.Table 1: Recommendations: pathways to bridge the gapsConclusion Community-driven interventions in awareness, early detection and equitable access to care offer a pathway towards transformative change in managing hereditary bleeding disorders across India. By empowering community health workers, leveraging NGO government collaborations, deploying technology wisely and advocating for cohesive national policy, India, can dramatically reduce the preventable burden of haemophilia, sickle cell disease and thalassaemia.