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10th May 2025 (13 Topics)

Thalassemia

Context

'World Thalassaemia Day' is celebrated every year on 8 May to spread awareness about this disease.

What is Thalassemia?

  • Thalassemia is an inherited blood disorder that affect the body’s ability to produce normal hemoglobin, leading to chronic anemia.
  • It is caused by mutations in the HBB gene responsible for beta-globin production.
  • Hemoglobin is made of two proteins:
    • Alpha globin
    • Beta globin
  • Thalassemia occurs when there is a variant in a gene that helps control production of one of these proteins.
  • It leads to excessive destruction of red blood cells and causing anemia.
  • It is genetic and can range from mild to severe, requiring regular blood transfusions or lifelong management.
  • There are two main types:
    • Thalassemia Minor (carrier state) – usually asymptomatic.
    • Thalassemia Major (disease state) – requires lifelong transfusions.
  • The disease burden is aggravated by low awareness, intra-community marriages, and poor early screening practices.
  • India sees 10,000 to 15,000 babies born with Thalassemia Major every year (NHM 2016).
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