New Delhi: A new study has exposed the rising threat of inherited blood disorders among Indian children, revealing that more than one in four tested were found to carry a hemoglobin-related condition. The findings underscore a pressing need for early genetic screening, prenatal testing, and region-specific interventions to tackle what experts are calling a silent but escalating pediatric health crisis.
The landmark research, conducted by Metropolis Healthcare Limited, India’s second-largest diagnostic chain led by Ameera Shah, screened nearly 20,000 children under the age of 12 between 2021 and 2024. All participants were clinically suspected of having hemoglobinopathies, a group of inherited disorders affecting red blood cells.
The results were sobering: 28.4% of the children tested were found to have some form of hemoglobinopathy. The most prevalent conditions included the beta-thalassemia trait (38.7%) and sickle cell disease/trait (30%). While some children with these genetic traits may not show symptoms, they remain at risk of passing the condition on to future generations, especially if both parents are carriers.
More alarmingly, over 51% of the affected children were below the age of three, highlighting the urgent need for routine prenatal and newborn screening, as well as genetic counselling, in maternal and child healthcare services.
“This is a significant public health issue,” said Dr. Smita Sudke, Chief of Laboratory, Pune & Rest of Maharashtra, and lead author of the study. “Early detection through modern molecular diagnostics can dramatically change disease outcomes and improve quality of life. Techniques like Sanger sequencing, Gap-PCR, and Next-Generation Sequencing (NGS) are critical for timely diagnosis and reproductive planning.”
The study also pointed to regional disparities in the prevalence of blood disorders:
North-East India recorded the highest positivity rate at 48.44%, with a concentration of Hemoglobin E (HbE) cases.
Central India showed a significant sickle cell disease burden at 37.36%.
South India reported an overall hemoglobinopathy prevalence of 34.09%.
The beta-thalassemia trait was found to be widespread across Western and Northern India.
These trends suggest the need for targeted, geography-specific screening initiatives that take local genetic patterns into account.
The findings build on a previous pan-India study conducted by Metropolis involving 65,779 cases, which emphasized the transformative role of molecular testing in diagnosing hemoglobinopathies. Using advanced DNA sequencing, the study not only identified common mutations in beta-thalassemia but also detected rare and previously unknown hemoglobin variants.
According to Dr. Sudke, NGS technology allows in-depth analysis of critical genes like HBB, HBA1, and HBA2, detecting both small mutations and larger deletions or duplications that traditional tests often miss.
Dr. Kirti Chadha, Chief Scientific and Innovation Officer at Metropolis, added: “Molecular testing has revolutionized how we diagnose and manage complex blood disorders. It enables early detection—even before symptoms appear—and is indispensable in prenatal and newborn screening programs. Our goal is to make such advanced diagnostics accurate, accessible, and affordable across India.”
With India accounting for nearly 25% of the global beta-thalassemia burden, the Metropolis study is a call to action for policymakers, healthcare professionals, and public health authorities. The researchers advocate for integrating genetic screening and counseling into India’s national maternal and child health programs.
Metropolis Healthcare, through its focus on innovation and nationwide outreach, has pledged to continue supporting India’s fight against genetic blood disorders by expanding its genetic testing portfolio and raising awareness about the benefits of early diagnosis.
As inherited blood disorders silently impact thousands of children across the country, experts stress that early intervention, advanced diagnostics, and region-based healthcare planning are essential to prevent long-term complications and reduce the burden on families and the healthcare system.
