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

With gene therapy offering new hope for thalassemia, experts urge Indian govt to invest in early diagnosis, genetic testing, and equitable access to treatment

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:

• Thalassemia Minor (Trait) – Usually asymptomatic, but the person is a carrier
• Thalassemia Intermedia – Moderate symptoms, occasional transfusions required
• Thalassemia Major – Severe, requiring regular blood transfusions from early childhood

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.  ALSO READ | Doctors used CRISPR to rewrite a baby's DNA and fix a rare liver disorder

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?

The Chinese case demonstrates that a clinical cure is no longer theoretical. The children, previously dependent on lifelong transfusions, are now transfusion-free after a one-time dose of Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)-based gene therapy.  For more health updates, follow #HealthWithBS 

This content is for informational purposes only and is not a substitute for professional medical advice.