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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?
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.'
