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Business Standard
28-05-2025
- Health
- Business Standard
Could gene therapy end thalassemia? China's breakthrough sparks hope
Can a single shot rewrite a child's genetic fate? In a groundbreaking trial, doctors in China have used gene therapy to successfully treat children with thalassemia, a life-threatening inherited blood disorder that has long burdened families with frequent transfusions and lifelong medical care. As reported by media reports, one-time treatment using gene-edited stem cells has enabled multiple children to live transfusion-free for over a year. The promise is immense as it might offer a potential cure for a disease that affects millions across the globe. What is thalassemia and how does it impact the body? According to the Cleveland Clinic, an American nonprofit academic medical center based in Cleveland, Ohio, thalassemia is a genetic blood disorder that affects the body's ability to produce healthy haemoglobin, the oxygen-carrying component of red blood cells. This results in chronic anemia, fatigue, developmental delays, bone deformities, and in severe cases, life-threatening complications. US Centers for Disease Control and Prevention (CDC) classifies Thalassemia based on which part of the haemoglobin molecule is affected, alpha or beta, and the severity of the condition, described as trait, intermedia, or major. Thalassemia types are classified based on which part of the hemoglobin molecule is affected—alpha or beta—and the severity of the condition, described as trait, intermedia, or major. Hemoglobin, responsible for carrying oxygen throughout the body, consists of alpha and beta protein chains. When the body can't produce enough of either, it leads to alpha or beta thalassemia, resulting in reduced hemoglobin levels and varying degrees of anemia. According to severity: How common is thalassemia in India and how is it diagnosed? According to a new study by Metropolis Healthcare, an Indian multinational diagnostic, more than 1 in 4 Indian children clinically suspected of inherited blood disorders found positive. The study highlighted that over 51 per cent of affected children were under age 3, reinforcing the urgent need for prenatal and early childhood screening. 'Our findings reveal an urgent public health concern. Early detection through prenatal and newborn screening can dramatically alter disease outcomes,' said Dr Smita Sudke, Chief of Laboratory, Metropolis Healthcare. Advanced molecular techniques like Next-Generation Sequencing (NGS), Gap-PCR, and Sanger sequencing now make it possible to detect mutations with high precision, even before symptoms appear. 'NGS is a game-changer for identifying rare and novel mutations. It helps decode unexplained symptoms and enables early, even pre-symptomatic, diagnosis,' said Dr Kirti Chadha, Chief Scientific and Innovation Officer, Metropolis Healthcare. Metropolis' earlier study of 65,779 cases across revealed how modern DNA sequencing is improving diagnosis and disease classification, especially for beta-thalassemia. Why premarital and prenatal screening matter in thalassemia Despite the high burden, premarital screening remains rare in India due to social stigma. However, antenatal testing is gaining ground in high-risk groups. Doctors stress the importance of screening both partners before pregnancy. If both are carriers, there's a 25 per cent chance of the child having thalassemia major, a severe, lifelong condition. How is thalassemia treated in India today? Standard treatment in India includes: Regular blood transfusions Iron chelation therapy to remove excess iron Bone marrow transplant (BMT): A potential cure if a matched donor is available Gene therapy: Experimental in India, but now a realistic hope According to Dr Rahul Bhargava, Principal Director & Chief of BMT at Fortis Memorial Research Institute, 'A matched bone marrow transplant offers a curative option. But gene therapy could transform how we approach thalassemia treatment in the future.' What is the cost burden of thalassemia care in India? Annual cost of treatment ranges between ₹1.5–4 lakhs for transfusions and medications Bone Marrow Transplant costs ₹10–25 lakhs (some public hospitals subsidise) Gene therapy is currently unavailable in India and is expected to be expensive initially Can thalassemia be prevented through screening and awareness? According to experts, yes, prevention is possible through: Carrier screening Prenatal testing Genetic counseling Dr Sudke adds, 'We must integrate genetic screening into routine maternal and child health programs. It's the most effective way to reduce the future burden.' What does the gene therapy success in China mean for India?
India Today
22-05-2025
- Health
- India Today
India's hidden health crisis: Genetic blood disorders plague children under 12
India is facing a hidden health crisis among children: the alarming rate of inherited blood data from Metropolis Healthcare, a diagnostic laboratory chain, has found that more than 1 in 4 children from 0 to 12 suspected of having a blood disorder were found to carry inherited haemoglobin findings are based on a three-year study conducted between 2021 and 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 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 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 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 DISPARITY AND GENETIC RED FLAGSThe data also reveal regional differences in the spread of these disorders, suggesting that blanket screening policies may not be 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 Western and Northern India showed widespread cases of beta-thalassaemia 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 TESTING IS A GAME-CHANGERBeyond identifying the burden, the study highlights the role of molecular diagnostics in catching what traditional tests often 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 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 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 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 India grapples with a rising non-communicable disease burden, inherited blood disorders must not remain in the shadows.
Time of India
21-05-2025
- Health
- Time of India
Inherited blood disorders common in young children, study suggests
Mumbai: Diagnostic laboratory chain Metropolis Healthcare has released findings from a three-year study (2021–2024) that screened nearly 20,000 children under the age of 12 who were clinically suspected of having hemoglobinopathies —genetic disorders that affect red blood cells. The study reveals that 28.4 per cent of the children tested were affected. Among the identified cases, the most common conditions were the beta-thalassemia trait (38.7 per cent) and sickle cell disease or trait (30 per cent). Notably, over half of the affected children were under the age of three, underscoring the need to integrate prenatal testing, early screening, and genetic counseling into routine maternal and child healthcare . The study also highlights regional disparities in prevalence. The North-East recorded the highest positivity rate at 48.44 per cent, with a significant presence of Hemoglobin E. Central India showed a higher burden of sickle cell disease at 37.36 per cent, while South India reported an overall prevalence of 34.09 per cent. Beta-thalassemia trait was found to be widely prevalent in Northern and Western India. An earlier pan-India study by Metropolis, which analysed 65,779 cases, further reinforced the importance of molecular testing in diagnosing hemoglobinopathies . According to the company, advanced tools like Next-generation sequencing (NGS) can analyze key genes—HBB, HBA1, and HBA2—in greater detail, detecting genetic mutations that traditional testing may overlook. This facilitates accurate diagnosis, identification of carriers, and enables a more personalized approach to disease management. Metropolis states that the high sensitivity and precision of NGS make it especially suitable for large-scale screening programs, aiding improved clinical decision-making in managing thalassemia and related disorders. Dr. Smita Sudke, Chief of Laboratory, Pune & Rest of Maharashtra, Metropolis Healthcare, and the lead author of the study, said, '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 the long-term health and economic burdens on families and the healthcare system.' Dr. Kirti Chadha, Chief Scientific and Innovation Officer at Metropolis Healthcare Limited, added, 'Molecular testing is pivotal in diagnosing and managing complex blood disorders, particularly beta-thalassemia major and sickle cell disease. It helps decode unexplained symptoms such as anemia or microcytosis and enables early detection—even before symptoms appear—making it indispensable for prenatal and newborn screening.'
