Asik SyedThalassemia is more than just a medical term—it’s a pressing global health issue. Each year, 300,000 to 400,000 newborns come into the world with severe haemoglobin disorders. At the core of thalassemia are genetic mutations that disrupt the body’s ability to produce normal haemoglobin, often resulting in chronic anaemia.
Types of Thalassemia
Thalassemia comes in two major forms:
- Alpha Thalassemia
Caused by mutations in genes responsible for alpha globin production. This form is commonly found in Southeast Asia, the Middle East, and parts of Africa. - Beta Thalassemia
Affects beta globin production and is more frequently seen in Mediterranean populations, including India.
Each type can present as:
- Thalassemia Major – both parents pass on the mutation.
- Thalassemia Minor – only one parent is a carrier, often with milder or no symptoms.
Symptoms & Diagnosis
Thalassemia Major often shows early symptoms such as:
- Severe anaemia
- Fatigue
- Growth delays
Diagnosis typically involves:
- Blood tests (Complete Blood Count, HPLC)
- Genetic testing to pinpoint specific mutations
Treatment & Management
Managing thalassemia requires lifelong care. Here are the key treatment options:
- Regular Blood Transfusions
Crucial for maintaining normal haemoglobin levels, though they increase iron in the body. - Iron Chelation Therapy
Helps remove excess iron due to frequent transfusions. - Bone Marrow Transplant
A potential cure, provided a suitable donor is found. - Gene Therapy
A promising frontier in treatment, where faulty genes are repaired or replaced. While costly and mostly offered abroad, it’s paving the way for future breakthroughs.
Impact of Thalassemia in India
India faces a significant burden from beta thalassemia and sickle cell disorders:
- 3–4% of the population are estimated carriers
- Certain communities have even higher prevalence
- Regional disparities exist—even within the same state
Micro-mapping techniques are helping identify high-risk zones and inform local interventions.
Prevention: The Best Strategy
India’s approach to thalassemia focuses heavily on prevention:
- The National Thalassemia Control Programme promotes awareness and carrier screening
- Premarital and prenatal testing is encouraged
- Antenatal diagnosis via Chorionic Villus Sampling (CVS) enables early decision-making
Looking Ahead: Research & Innovation
Exciting progress is being made:
- Research is underway to reduce the cost of gene therapy.
- Advances in biotech are improving accessibility to advanced treatments.
- Government and NGO collaborations are critical to extending support to those in need.
Professor
Neha Baruah
Asik Syed
