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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Among the important factors to which our business is subject that could cause actual results to differ materially from those in any forward-looking statements are: (i) the completion of the proposed transaction on the anticipated terms and timeline, or at all, including the ability of the parties to obtain required regulatory clearance—such as under the Hart-Scott-Rodino Act in the United States or from government authorities that may have or assert jurisdiction outside the United States—and to satisfy other conditions to closing; (ii) the future conduct and growth of the business and the markets in which we operate, including the proteomics market; (iii) the success of products and services competitive with our own; (iv) our ability to successfully integrate SomaLogic into our existing operations and SomaLogic's technology and products into our portfolio; (v) our ability to sell SomaLogic's products and further develop SomaLogic's technology; (vi) our ability to successfully manage partner and customer relationships in the proteomics market; (vii) our ability to manufacture robust instrumentation and consumables including SomaLogic's products; (viii) challenges inherent in developing, manufacturing, and launching new products and services, including expanding or modifying manufacturing operations and reliance on third-party suppliers for critical components; (ix) challenges inherent in developing, manufacturing, and launching new products and services; and (x) customer uptake of, and satisfaction with, new products and services, together with other factors detailed in our filings with the Securities and Exchange Commission, including our most recent filings on Forms 10-K and 10-Q, or in information disclosed in public conference calls, the date and time of which are released beforehand. We undertake no obligation, and do not intend, to update these forward-looking statements, to review or confirm analysts' expectations, or to provide interim reports or updates on the progress of the current quarter. About Illumina Illumina is improving human health by unlocking the power of the genome. Our focus on innovation has established us as a global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical, and applied markets. Our products are used for applications in the life sciences, oncology, reproductive health, agriculture, and other emerging segments. To learn more, visit and connect with us on X, Facebook, LinkedIn, Instagram, TikTok, and YouTube. *References: 1. Rooney MR, Chen J, Ballantyne CM, et al. Plasma proteomic comparisons change as coverage expands for SomaLogic and Olink. medRxiv. Preprint posted online July 12, 2024. doi:10.1101/2024.07.11.24310161 2. Kirsher DY, Chand S, Phong A, Nguyen B, Szoke BG, Ahadi S. The current landscape of plasma proteomics: technical advances, biological insights, and biomarker discovery. bioRxiv. Preprint posted online February 19, 2025. doi: 10.1101/2025.02.14.638375 Logo - (Disclaimer: The above press release comes to you under an arrangement with PRNewswire and PTI takes no editorial responsibility for the same.).
