Thalassemia :- The Burden unknown to many and unbearable to the affected.

By Dr. Ravi Joshi, Senior Consultant & Clinical Lead – Hematology, Pediatric Oncology & Bone Marrow Transplant, CAR-T & Cellular Therapy Specialist, KIMS Hospitals (Krishna Institute of Medical Sciences), Mahadevapura, Bengaluru.

Every year, thousands of children in India are born with a preventable blood disorder called Thalassemia. Despite advances in treatment, lack of awareness and delayed screening continue to place a major emotional and financial burden on families. Increased public education and carrier detection can significantly reduce the number of affected births in the country.

What is Thalassemia?

Thalassemia is an inherited blood disorder in which the body is unable to produce normal hemoglobin, the protein in red blood cells responsible for carrying oxygen. Children affected with severe forms, especially Thalassemia major, develop severe anemia and require lifelong medical care in the form of regular packed red blood transfusions and regular medications to prevent iron overload.

It is passed genetically from parents to children. A child develops severe Thalassemia when both parents are carriers of the defective gene.

Symptoms usually begin within the first few months to years of life. Affected children may present with:

• Severe anemia
• Pale skin
• Poor weight gain
• Delayed growth
• Enlarged liver and spleen
• Recurrent infections and fatigue

Without regular treatment, the disease can lead to serious complications affecting the heart, liver, bones, and endocrine organs. Children with inadequate blood transfusion and supportive care may not survive beyond 20-25 years.

How Common is Thalassemia in India?

India carries one of the world’s largest burdens of Thalassemia. It is estimated that around 10,000 to 15,000 children with Thalassemia major are born in the country every year. Approximately 3–4% of the Indian population are carriers of Thalassemia gene, though the prevalence may be much higher in certain communities and regions.

Because carriers are usually healthy and asymptomatic, many individuals are unaware they carry the gene until an affected child is born in the family.

Why Carrier Detection is Important

Carrier detection is the cornerstone of Thalassemia prevention. If both partners are carriers, there is:

A 25% chance that the child will have Thalassemia major

A 50% chance that the child will also be a carrier

A 25% chance that the child will be completely unaffected

Identifying carriers before marriage or pregnancy allows couples to make informed reproductive decisions. Countries that implemented large-scale screening and awareness programs have successfully reduced the incidence of severe Thalassemia.

Premarital counselling, antenatal screening, and family testing are therefore extremely important public health measures.

How to Screen for Thalassemia

Screening for Thalassemia is simple and widely available.

Initial tests include:

Complete Blood Count (CBC)

Peripheral smear examination

Hemoglobin electrophoresis or High-Performance Liquid Chromatography (HPLC)

Individuals with low Mean Corpuscular Volume (MCV) and elevated HbA2 levels are often identified as carriers of Thalassemia.

If both partners are found to be carriers, genetic counselling is recommended. During pregnancy, prenatal diagnostic tests such as chorionic villus sampling or amniocentesis can determine whether the fetus is affected.

Family members of known patients should also undergo screening, as Thalassemia frequently runs within families.

Treatment Options

Treatment for Thalassemia has improved considerably over the years, allowing many patients to survive into adulthood with a good quality of life.

Regular Blood Transfusions

Children with Thalassemia major usually require lifelong blood transfusions every 3–4 weeks to maintain adequate hemoglobin levels and growth.

Iron Chelation Therapy

Repeated transfusions lead to excess iron accumulation in the body, which can damage vital organs. Iron chelation medicines help remove this excess iron and are essential for long-term survival.

Newer Drugs :- Newer drugs like Luspatercept have been tried to reduce the frequency of blood transfusion and hence improve the quality of life.

Bone Marrow or Stem Cell Transplant

A Bone marrow transplant offers the best possibility of cure in Thalassemia major patients, especially when performed early and with a suitable donor (Matched Family Donor).Only 30% of the children have the likelihood of getting a fully matched family donor. However, with improvement in conditioning regimens over past 10 to 15 years and newer techniques like post transplant cyclophosphamide or TCR alpha beta depletion ,have reduced the mortality and morbidity associated with half matched (Haploidentical) or Matched Unrelated Donor (MUD) transplants.

Newer Therapies

Advances in gene therapy and newer medications are providing hope for improved outcomes and reduced transfusion dependence in some patients. Gene therapy could open new dimensions in treating Thalassemia in coming yeras, with many trials showing promising results.

The Need for Greater Awareness

Thalassemia is largely preventable through awareness, carrier screening, and genetic counselling. Public health campaigns, school and college screening programs, and routine antenatal testing can help reduce the burden of this disease in India.

Early diagnosis and timely treatment can transform the lives of affected children. However, prevention through carrier detection remains the most effective long-term strategy.

A society informed about Thalassemia is better equipped to prevent suffering and ensure healthier future generations.

Each year on May 8 is observed as World Thalassemia Day

That is why the Theme for Thalassemia Day 2026 given by Thalassemia International federation (TIF) is :-  Hidden no more: Finding the undiagnosed , supporting the unseen.