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Could gene therapy end thalassemia? China's breakthrough sparks hope
Could gene therapy end thalassemia? China's breakthrough sparks hope

Business Standard

time28-05-2025

  • 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?

Metropolis Healthcare completes acquisition of Dr. Ahujas' Pathology & Imaging Centre
Metropolis Healthcare completes acquisition of Dr. Ahujas' Pathology & Imaging Centre

Business Standard

time24-05-2025

  • Business
  • Business Standard

Metropolis Healthcare completes acquisition of Dr. Ahujas' Pathology & Imaging Centre

Dapic Metropolis Healthcare (formerly known as Metropolis Histoxpert Digital Services), a wholly owned subsidiary of Metropolis Healthcare, has completed the acquisition of entire business of Dr. Ahujas' Pathology & Imaging Centre (DAPIC a partnership firm), Dr. Alok Ahuja and Dr. Alka Ahuja (collectively referred to as acquired business) as a going-concern, effective 23 May 2025, in accordance with the terms agreed under the Business Transfer Agreement. Following the completion of the acquisition, the operations of the acquired business are now being carried out under Dapic Metropolis Healthcare effective 23 May 2025.

India's hidden health crisis: Genetic blood disorders plague children under 12
India's hidden health crisis: Genetic blood disorders plague children under 12

India Today

time22-05-2025

  • 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.

Inherited blood disorders common in young children, study suggests
Inherited blood disorders common in young children, study suggests

Time of India

time21-05-2025

  • 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.'

12 common cancer myths busted: What doctors say you must stop believing
12 common cancer myths busted: What doctors say you must stop believing

Business Standard

time16-05-2025

  • Health
  • Business Standard

12 common cancer myths busted: What doctors say you must stop believing

Let's get one thing straight — cancer is already very scary and we don't need the burden of myths, misinformation, and half-truths to add to the fight. Whether it's whispered advice from a well-meaning relative or something you read in a WhatsApp forward, these myths can do more harm than good, especially when they lead to delayed diagnosis, poor decisions, or outright fear. So for this Fact-check Friday, we spoke to cancer specialists to bust the most common myths about cancer, covering everything from vaccines to surgery to mobile phones. Here's what the experts want you to stop believing, and why. Do you always need to remove the whole breast for cancer treatment? Fact: Not true. For early-stage breast cancer, breast conservation surgery (removing only the tumour and surrounding tissue) is just as effective as full mastectomy, said Dr Mandeep Singh Malhotra, Director of Surgical Oncology at CK Birla Hospital. It can even offer better emotional and immune outcomes. Is it safe to skip cancer screening until symptoms appear? Fact: Waiting for symptoms could mean waiting too long. Dr Kirti Chadha of Metropolis Healthcare said many cancers, like cervical, start silently. Regular screening, like Pap smears or HPV testing every 3–5 years, is essential even when you feel perfectly fine. Are all lumps, nodules, or tumours cancerous? Fact: Don't panic at the first bump. Most lumps are benign, said Dr Chadha. Only a biopsy and histopathology can confirm if it's cancer. Don't jump to conclusions without a proper diagnosis. Does blood cancer affect only older people? Fact: Blood cancer doesn't check birth certificates. Dr Anil Kamat, Head of Clinical Development at Immuneel Therapeutics, highlights that types like acute lymphoblastic leukaemia (ALL) are actually more common in children. Awareness and early intervention can make all the difference. Can mobile phone use cause brain cancer? Fact: The radiations emitted by mobile phones are non-ionising, which do not cause DNA damage linked to cancer, said Dr Mayank Singh. While there's ongoing debate about the long-term impact of exposure, studies so far, including those from the WHO, have not shown strong evidence linking mobile use to brain cancer. Is cancer always fatal? Do only people with a family history get cancer? Fact: Most cancers are actually sporadic, meaning they occur in people with no family history. 'Genetics is just one factor,' said Dr Singh. Lifestyle and environmental exposures, such as pollution or diet, are often more significant contributors. Do deodorants and antiperspirants cause breast cancer? Fact: This myth has persisted for years, but remains unproven. According to Dr Mayank Singh, 'Studies so far have not shown that components in deodorants mimic hormones or cause mutations.' There's no strong scientific evidence linking these products to breast cancer. Fact: There is no 'miracle food' that can cure cancer. However, a nutrient-rich diet can help reduce the risk of DNA damage caused by reactive oxygen species (ROS), said Dr Singh. 'Eating foods rich in antioxidants helps curb ROS, which thrive in acidic environments.' He added that environmental factors, like toxins in polluted air, also play a role. 'Food is not a replacement for medicine during cancer. Herbal remedies should never replace conventional treatment and may even interfere with it,' he warned. Can cutting sugar from your diet stop cancer growth? Fact: Cancer cells do use glucose, but so do healthy cells. Dr Malhotra explains that eliminating sugar entirely or following extreme low-carb diets doesn't stop cancer, and could even be dangerous. 'Severely restricted diets can lead to poor nutrition and weight loss, which is risky for cancer patients undergoing intense treatment.' Focus on balanced nutrition, not fear-based restriction. Can a positive mindset alone cure cancer?

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