Mumbai: Nearly 28 out of every 100 children clinically suspected of having inherited blood disorders were found to be affected, according to a three-year study (2021–2024) released by Metropolis Healthcare Limited.
The diagnostic laboratory chain screened nearly 20,000 children under the age of 12 across India, focusing on those suspected of having hemoglobinopathies.
The study revealed that 28.4% of these children tested positive for a hemoglobin disorder. Hemoglobinopathies are inherited conditions that affect red blood cells and can lead to chronic anaemia, fatigue, delayed growth, and increased vulnerability to infections.
Among the children with confirmed blood disorders, the beta-thalassemia trait was the most common at 38.7%, followed by sickle cell disease and trait, which together accounted for 30%.
The study also found that more than 51% of the affected children were under the age of three, emphasizing the need for early screening and genetic counselling as part of routine maternal and child healthcare.
The research highlighted regional variations in the prevalence of these disorders. North-East India had the highest positivity rate at 48.44%, with a notable presence of Hemoglobin E (HbE).
Central India showed a greater burden of sickle cell disease at 37.36%, while South India reported an overall hemoglobinopathy prevalence of 34.09%. Western and Northern India saw a widespread presence of the beta-thalassemia trait.
Dr Smita Sudke, Chief of Laboratory, Pune & Rest of Maharashtra at Metropolis Healthcare and author of the study, said, "Our findings reveal an urgent public health concern around inherited blood disorders like beta-thalassemia and sickle cell disease. Early detection through prenatal and newborn screening can dramatically alter disease outcomes. By incorporating advanced molecular diagnostic tools such as Sanger sequencing, Gap-PCR, and Next-Generation Sequencing (NGS), we can ensure timely diagnosis, empower reproductive planning, and ease long-term health and economic burdens on families and the healthcare system. These insights make a strong case for integrating genetic screening and counselling into India’s maternal and child health initiatives."
An earlier pan-India study by Metropolis Healthcare, which involved 65,779 cases, also underscored the importance of molecular testing in diagnosing hemoglobinopathies.
Using advanced DNA sequencing, the study was able to detect rare forms of hemoglobin and identify the most common beta-thalassemia mutations found globally.
The report noted that Next-Generation Sequencing (NGS) offers detailed analysis of the HBB, HBA1, and HBA2 genes, capable of identifying both minor mutations and larger deletions or duplications often missed by conventional methods.
NGS is considered useful for carrier screening, prenatal diagnosis, and classification of various blood disorders.
Dr Kirti Chadha, Chief Scientific and Innovation Officer at Metropolis Healthcare Limited, said, "Molecular testing plays a pivotal role in diagnosing and managing complex blood disorders, particularly beta-thalassemia major and sickle cell disease. It helps decode unexplained symptoms like anaemia or microcytosis and enables early detection—even before symptoms appear—making it indispensable for prenatal and newborn screening. At Metropolis, we are expanding our portfolio of high-impact genetic tests, including NGS to bring accurate, accessible, and affordable solutions to families across India. By leveraging the power of advanced diagnostics, we aim to enable timely interventions and drive better healthcare outcomes nationwide."
With India contributing to an estimated 25% of the global beta-thalassemia burden, the findings underline the need for wider adoption of genetic screening and diagnostic tools in public health programs.
