Screening gaps, lifelong transfusions and emerging cures: Inside India’s thalassemia challenge

India’s large thalassemia burden has renewed calls from doctors and public health experts for stronger nationwide screening programmes, early genetic counselling and wider access to advanced therapies, as World Thalassemia Day is observed on May 8.

According to the World Health Organisation (WHO), thalassemia is a hereditary blood disorder characterised by inadequate haemoglobin production, leading to severe anaemia. It estimates 1.7% of global pregnancies — around 300,000 births yearly — are impacted by severe haemoglobin disorders like thalassemia, with India bearing a disproportionate load due to high carrier rates of 3-4%.

Many carriers remain unaware until an affected child is born

Experts say the biggest challenge with thalassemia is that carriers are often healthy and unaware of their status, resulting in delayed diagnosis and missed opportunities for prevention.

Dr. Ajay Sharma, Director & HOD - Hematology and Hemat-Oncology at Paras Health (Panchkula) said thalassemia is among the few serious genetic disorders where awareness and screening can make a meaningful difference even before a child is born.

“Conversations around premarital and prenatal testing are still not happening openly enough which often delays informed decision-making for families. The focus should be on normalising screening, strengthening counselling, and encouraging preventive healthcare approaches within communities.”

Highlighting the scale of the issue, Dr. Shivam Shingla, Sr. Consultant Oncology and Hematologist at Zynova Shalby Hospital (Mumbai), said around 3–4% of Indians are estimated to be thalassemia carriers.“Many people who carry the thalassemia gene tend to be healthy, but they are often unaware that they are carriers. This makes the condition difficult to detect unless the doctor advises testing.”

He added that screening before marriage or pregnancy could significantly reduce the risk of children being born with thalassemia major.

Dr. Roshan Dikshit, Senior Consultant, Haematology & Bone Marrow Transplant at Aakash Healthcare (Delhi) said screening of potential partners before marriage or early during pregnancy can help families make informed reproductive choices

“If two thalassaemia carriers marry, they have a high risk of having a child with thalassaemia major. Screening of potential partners prior to marriage or early in pregnancies can change the outcome from risk to informed choice.”

Thalassemia affects every stage of life

Doctors said the disorder affects patients far beyond the physical symptoms of anaemia, often disrupting education, careers, emotional wellbeing and social life.

Dr. Vishnu Hari, Associate Director & Head- Medical Oncology, Haematology & BMT at Sarvodaya Hospital (Faridabad) said thalassemia patients and families frequently face emotional and social challenges that remain overlooked.

“For individuals living with thalassemia, the condition affects every stage of life, from frequent hospital visits and treatment-related complications to emotional and social challenges that are often overlooked.”

He added that while medical advancements such as bone marrow transplants and emerging gene therapies are improving outcomes, patients also need stronger emotional and social support systems to live with dignity and confidence.

Dr. Sunil Bhat, Director and Head of the Paediatric Haematology, Oncology and Bone Marrow Transplantation service at Narayana Health City (Bengaluru) said children diagnosed with thalassemia often grow up around hospital schedules, repeated transfusions and chronic fatigue.

“Families restructure their lives, finances, and futures around treatment schedules.”

He noted that the psychological burden of the disease is often underestimated.

Iron overload and lifelong transfusions remain major concerns

Experts noted that while regular blood transfusions are lifesaving for severe thalassemia patients, repeated transfusions can result in excess iron accumulation in the body over time.

Dr. Vamshi V, Consultant - Internal Medicine at Gleneagles AWARE Hospitals (Hyderabad), said global healthcare systems are increasingly shifting towards a “screening-to-cure” strategy.

“The primary hurdle remains the high prevalence of carriers, exacerbated by cultural practices like consanguinity. Without robust premarital and prenatal screening, the cycle of inheritance continues.”

He added that iron overload caused by chronic transfusions can damage critical organs such as the heart, liver and endocrine glands, significantly affecting long-term quality of life.

Similarly, Dr. Roshan Dikshit said maintaining continuous thalassemia care remains difficult for many families, particularly children dependent on lifelong transfusions and iron chelation therapy.

“Living with thalassaemia affects all aspects of a person’s life right from schooling, job productivity and overall quality of life.”

He added that advances in bone marrow transplant and gene therapies are opening new possibilities for patients.

“Creating awareness of the condition generates a support system that helps families deal with their fears.”

Dr. Shivam Shingla added that many children with thalassemia continue to struggle with fatigue, delayed growth and frequent hospital visits despite advancements in supportive treatment.

Doctors stress importance of screening before and during pregnancy

Experts say obstetricians and gynaecologists often play a critical role in identifying thalassemia risk, as pregnancy may be the first time many women undergo structured screening.

Dr. Mitul Gupta, Senior Consultant - Obstetrics and Gynecology at Cocoon Hospital (Jaipur) said prevention should ideally begin before conception.

“Thalassemia trait carriers are often completely healthy and may not show any major symptoms, which is why many couples remain unaware of their risk.”

She explained that blood tests such as CBC, red cell indices and Hb electrophoresis, followed by genetic counselling where required, can help identify carrier couples early.

“If thalassemia screening is done early in pregnancy, there is sufficient time for partner testing, counselling, and further diagnostic planning where required. However, ideally, this conversation should begin even before conception.”

Bone marrow transplant and gene therapy are offering new hope

Doctors say treatment options for thalassemia have evolved significantly over the past decade, particularly in bone marrow transplantation and gene-based therapies.

Dr. Sunil Bhat said bone marrow transplantation remains the most established curative treatment for eligible patients, especially children with matched sibling donors.

“Success rates in well-matched cases now exceed 90 per cent at specialised centres, making this the most established curative path available.”

He added that rapid advancements in gene therapy research are now moving closer to helping patients achieve “transfusion independence”.

Expanding on emerging treatment approaches, Dr. Geetika Jassal, Medical Spokesperson at Cryoviva Life Sciences, said thalassemia control requires an integrated healthcare strategy rather than isolated interventions.

“The future of thalassemia care lies in connecting multiple components into a single coordinated system – awareness and community level screening, genetic counselling, early diagnosis, newborn screening, safe and regular transfusion support, iron monitoring, availability of stem cell donors, and emerging advanced therapies.”

She added that advances in stem cell and gene-based therapies are expanding possibilities, but such interventions must remain guided by scientific evidence, eligibility and specialist supervision.

Experts call for stronger awareness and reduced stigma

Doctors also warned that social stigma surrounding thalassemia continues to discourage many families from openly discussing carrier status or seeking timely testing.

According to Dr. Roshan Dikshit, awareness campaigns are essential to building stronger support systems for affected families and improving early diagnosis.

“The stigma associated with thalassaemia needs to be changed. Creating awareness of the condition generates a support system that helps families deal with their fears.”

Experts said the larger message this World Thalassemia Day is that prevention, awareness and equitable access to treatment can significantly reduce the disease burden in India while improving quality of life for patients already living with the condition.

Article Source:

https://www.firstpost.com/health/screening-gaps-lifelong-transfusions-and-emerging-cures-inside-indias-thalassemia-challenge-ws-e-14009101.html