India's hidden health crisis: Genetic blood disorders plague children under 12
The study screened nearly 20,000 children who showed signs of haemoglobinopathies, a group of inherited conditions that affect red blood cells and can lead to chronic anaemia, fatigue, delayed growth, and vulnerability to infections.Around 28.4% of these children tested positive for a haemoglobin disorder, raising serious questions about the reach and effectiveness of India's paediatric and maternal health infrastructure.The two most common conditions identified were beta-thalassaemia trait (38.7%) and sickle cell disease (30%).
Thalassemia.
Beta-thalassaemia affects the body's ability to produce enough red blood cells, while sickle cell disease alters the shape of red blood cells, often causing severe pain, frequent infections, and life-threatening complications.advertisementEven more concerning is that over half of the affected children were below the age of three, thus, highlighting the desperate need for early screening and preventive interventions."Our findings reveal an urgent public health concern. Early detection through prenatal and newborn screening can dramatically alter disease outcomes," said ,' said Dr. Smita Sudke, Chief of Laboratory, Pune & Rest of Maharashtra at Metropolis and lead author of the study.REGIONAL DISPARITY AND GENETIC RED FLAGSThe data also reveal regional differences in the spread of these disorders, suggesting that blanket screening policies may not be enough.The Northeast had the highest positivity rate at 48.44%, largely due to a high prevalence of Haemoglobin E (HbE).
The data also reveal regional differences in the spread of these disorders, suggesting that blanket screening policies may not be enough.
Central India saw sickle cell disease dominate, with a positivity rate of 37.36%.Southern states recorded a 34.09% prevalence of various haemoglobinopathies.Meanwhile, Western and Northern India showed widespread cases of beta-thalassaemia trait.Such data, say experts, make a compelling case for region-specific screening protocols and stronger integration of genetic testing into routine healthcare services, especially for expectant mothers and young children.advertisementMOLECULAR TESTING IS A GAME-CHANGERBeyond identifying the burden, the study highlights the role of molecular diagnostics in catching what traditional tests often miss.Techniques such as Next-Generation Sequencing (NGS), Sanger sequencing, and Gap-PCR are transforming how India can detect, diagnose, and manage inherited blood disorders.
Beyond identifying the burden, the study highlights the role of molecular diagnostics in catching what traditional tests often miss. ()
"NGS can look deeply into genes like HBB, HBA1, and HBA2 to detect even the smallest or rarest mutations. This allows for early intervention, even before symptoms show up, and helps guide families in reproductive planning and disease management," explained Dr. Kirti Chadha, Chief Scientific and Innovation Officer at Metropolis Healthcare.An earlier nationwide study by Metropolis, involving over 65,000 individuals, also underlined how genetic sequencing can detect both common and rare mutations in haemoglobin genes, essential knowledge in a country where carrier status often goes undiagnosed until it's too late.advertisementNEED FOR PUBLIC AWARENESSIndia is home to nearly 25% of the world's thalassaemia burden. Despite this, genetic testing remains largely out of reach for many, and awareness of these disorders is low, especially in rural regions.Study experts are calling for national-level policy changes, including:Prenatal and newborn screening programsMandatory genetic counsellingAffordable access to molecular testing, especially in high-prevalence zonesThe message is clear: without early detection and proactive screening, thousands of children will continue to suffer the life-altering effects of preventable genetic conditions.As India grapples with a rising non-communicable disease burden, inherited blood disorders must not remain in the shadows.
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