What is Thalassemia?

Thalassemia is an inherited haemoglobin disorder in which the body is unable to produce normal or sufficient haemoglobin, leading to chronic anaemia.

• Haemoglobin is a protein present in red blood cells (RBCs)
• It enables RBCs to transport oxygen from lungs to body tissues
• In thalassemia, haemoglobin synthesis is defective, resulting in:
  • Fewer healthy RBCs
  • Reduced oxygen delivery to tissues

This causes chronic anaemia, fatigue, organ stress, and reduced quality of life.

Genetic Basis

• Caused by mutation in genes responsible for haemoglobin production
• Inherited from one or both parents
• Autosomal recessive disorder
• Severity depends on whether mutation is inherited from:
  • One parent → thalassemia trait (carrier)
  • Both parents → thalassemia major

Types of Thalassemia

Classification depends on which globin chain is affected:

Alpha Thalassemia

• Affects alpha-globin chain
• Severity depends on number of genes affected (1–4)
• Severe forms may cause hydrops fetalis (fatal before or shortly after birth)

Beta Thalassemia

• Affects beta-globin chain
• Includes:
  • Beta thalassemia minor (trait)
  • Beta thalassemia intermedia
  • Beta thalassemia major (Cooley’s anaemia)

Epidemiology

• More common in:
  • Mediterranean regions (Greece, Turkey)
  • South and Southeast Asia
  • Africa and the Middle East
• High prevalence in India due to:
  • Carrier frequency
  • Consanguineous marriages
  • Lack of widespread genetic screening

Pathophysiology (Conceptual Clarity)

• Defective haemoglobin → fragile RBCs
• RBCs break down early → haemolytic anaemia
• Bone marrow overworks → skeletal deformities (in severe cases)
• Repeated transfusions → iron overload, damaging liver, heart, endocrine organs

Symptoms

Severity varies from mild to life-threatening.

Common Symptoms of Anaemia

• Fatigue and weakness
• Breathlessness
• Dizziness
• Pale or yellowish skin

Severe Thalassemia Complications

• Growth retardation in children
• Delayed puberty
• Enlarged spleen and liver
• Heart failure
• Increased infection risk
• Untreated severe thalassemia may be fatal

Treatment Options

There is no universally accessible cure, but long-term management improves survival.

Blood Transfusions

• Regular transfusions (often monthly)
• Maintain haemoglobin levels
• Lifelong requirement in thalassemia major

Iron Chelation Therapy

• Removes excess iron from repeated transfusions
• Prevents iron-induced organ damage

Curative Option

• Stem cell / bone marrow transplantation
• Only proven cure
• Limited due to:
  • Donor availability
  • Risk of graft-versus-host disease
  • High cost

Emerging Gene-Based Therapies

• Adenine base editing corrects point mutations without cutting DNA
• Safer than traditional CRISPR approaches
• Still in experimental and trial phases
• Aims for one-time curative treatment

Public Health Challenges

• Lack of universal carrier screening
• High cost of lifelong treatment
• Poor access to specialised care in rural areas
• Limited awareness and genetic counselling
• Psychological and economic burden on families

Prevention Strategy 

• Carrier screening before marriage
• Prenatal diagnosis
• Genetic counselling
• Awareness programmes in high-prevalence regions

Thalassemia vs Sickle Cell Disease (Quick Comparison)

Way Forward

• Expand population-level screening programmes
• Integrate genetic counselling with primary healthcare
• Ensure affordable access to chelation drugs
• Support indigenous research in gene editing
• Shift from treatment-centric to prevention-centric policy