Thalassemia

Thalassemia

Introduction: Thalassemia is an inherited blood disorder in which the body produces reduced or absent amounts of one or more globin chains that form haemoglobin, potentially leading to chronic anaemia.

Key pointers

• Nature: Genetic and inherited disorder.

• Affected component: Haemoglobin, the oxygen-carrying protein in red blood cells.

• Major types:

  • Alpha-thalassemia: Involves reduced or absent production of alpha-globin chains.

  • Beta-thalassemia: Involves reduced or absent production of beta-globin chains.

• Inheritance: Usually autosomal recessive; disease severity depends on the specific genetic variants inherited.

• Symptoms: Anaemia, fatigue, pallor, jaundice and, in severe forms, growth problems and enlargement of the spleen.

• Severe disease: Transfusion-dependent thalassemia may require regular blood transfusions and iron-chelation therapy.

• Complication of treatment: Repeated transfusions can cause iron overload, potentially damaging the heart, liver and endocrine organs.

• Diagnosis: Blood counts, haemoglobin analysis and, when appropriate, genetic testing.

• Prevention and screening: Carrier screening, genetic counselling and prenatal diagnostic options can help families understand reproductive risks.

• India's public-health relevance: Thalassemia prevention and management require awareness, screening, safe blood transfusion services and long-term clinical care.

UPSC focus: Thalassemia is inherited and is not contagious. It differs from iron-deficiency anaemia, which commonly results from inadequate iron availability and is not itself an inherited globin-production disorder.

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