100 Years of Thalassemia

A Century Ago…

In 1925, an American pediatrician named Dr. Thomas Benton Cooley described a serious health problem in children (mostly of Italian origin) who had severe anemia, enlarged liver and spleen, and bone deformities. This condition was later called Cooley’s Anemia, now known as Beta Thalassemia Major.

In 1932, another American doctor, George Hoyt Whipple, named this condition Thalassemia — combining the Greek word “Thalassa” (meaning sea) and “emia” (meaning blood). The name reflects its high occurrence in Mediterranean countries.

What is Thalassemia?

Thalassemia isn’t just one disease. It’s a group of inherited blood disorders caused by problems in making part of hemoglobin — the protein in red blood cells that carries oxygen. These problems result in:

• Less hemoglobin (causing pale, small red blood cells)
• Imbalance in blood components (leading to destruction of blood-forming cells and anemia)

Why May 8 Matters

World Thalassemia Day is observed on May 8 every year to honor people living with this condition and to spread awareness.
This date was chosen in memory of George Englezos, the son of the founder of the Thalassemia International Federation, who lost his life to the disease.
Theme for 2025: “Together for Thalassaemia: Uniting Communities, Prioritizing Patients” — emphasizing complete care for patients, not just medical treatment but emotional and social support too.

Burden of the Disease

Worldwide:

• 100 million people carry the thalassemia gene
• 300,000 babies born every year with serious forms like Thalassemia Major

In India:

• 3–17% people are carriers (average ~4%)
• 50 million carriers
• 12,000–15,000 children born each year with Thalassemia Major (that’s one every 40 minutes!)
• Between 1 lakh to 1.5 lakh patients receive some form of treatment

Bone Marrow Transplants (BMTs):

• Only 35 centers across India
• 3,206 successful BMTs from 1983 to 2022

Common Types of Thalassemia in India

1. Silent Carrier: No symptoms or signs
2. Thalassemia Trait/Minor: Mild anemia; often goes unnoticed
3. Thalassemia Intermedia: Moderate anemia; may not need regular transfusions
4. Thalassemia Major: Appears after 6 months of age; causes severe anemia and needs lifelong transfusions

If untreated or poorly managed, Thalassemia Major can cause visible bone and facial changes, enlarged belly, liver, and spleen, and many other serious complications. Regular follow-up is essential for survival.

How Thalassemia Is Inherited

Thalassemia is an autosomal recessive genetic disorder, meaning:

• A child gets it only if both parents carry the faulty gene
• Carriers (with one faulty gene) don’t show symptoms
• If both parents are carriers:
• 25% chance the child will have Thalassemia Major
• 50% chance the child will be a carrier
• 25% chance the child will be completely normal

Managing Thalassemia Major

Conservative (regular) treatment includes:

• Lifelong blood transfusions
• Iron chelation (to remove excess iron from blood)
• Multispecialty medical care
  Costs:
• `1 to `1.5 lakh per patient per year
• Bone Marrow Transplant (BMT) is the only cure: costs `15 to `40 lakh
• Gene Therapy is still in research phase in India

So, prevention is key.

Know Your Carrier Status – Prevention is the Best Cure

Who should get tested?

• Unmarried individuals
• Married couples planning a family
• Pregnant women

If a pregnant woman is a carrier, her husband must be tested too. If both are carriers, prenatal testing should be done early (10–12 weeks). If the fetus has Thalassemia Major, the couple may choose to terminate the pregnancy.

Carrier Testing: A simple blood test called HPLC (High Performance Liquid Chromatography)

• Normal HbA2: 2–3%
• Carrier: 3.9–9%
• Borderline: 3.2–3.9% — further tests needed

Important: If two carriers marry, prenatal screening is essential.

Also: Consanguineous marriages (within close relatives) carry higher risk and must screen early.

Community Screening & Awareness

Community screening can be done at Anganwadi centers and government schools by mobile health teams.

National Recommendation:
India already runs early detection programs for children (like RBSK), but Thalassemia screening must be made mandatory, not optional. It’s an urgent public health issue.

Inspired by Countries Like Cyprus:
They have successfully reduced thalassemia cases by mandatory testing and awareness.

Role of Welfare Societies

Thalassemia welfare societies are vital for spreading awareness.
In J&K:

• J&K Thalassemia Welfare Society (JKTWS), Jammu, supports patients, holds awareness drives, and conducts regular health and blood donation camps.
• Around 375 patients in Jammu and 20 in Srinagar are registered.
• Supported by GMC & SMGS Hospital Pediatrics Departments
• Free treatment is provided by the J&K Government

Recognition:

In India, Thalassemia is legally recognized as a disability under the RPWD Act, 2016. Those with 40% or more disability can get a certificate for benefits (education, job, financial aid).

Need of the Hour:
Upgrade lab equipment, ensure continuous supply of reagents, and launch a mass screening campaign to achieve a “Thalassemia-Free Jammu”.

Dr K K Koul is a Medical advisor, JKTWS & Former Professor & Head Pathology Department, GMC, Jammu