State PCS - Maharashtra (MPSC)

• 25 Sep 2025

Thalassaemia

Why in News?

Thalassaemia patients in Maharashtra are struggling due to a shortage of life-saving iron chelation drugs and the unpleasant taste of the available medicines. 

• These drugs, like deferasirox, are crucial to remove excess iron from frequent blood transfusions, which can otherwise damage the heart, liver, and endocrine glands.

Key Points

• About: Thalassemia is a genetic blood disorder that lowers the body’s ability to produce normal hemoglobin, resulting in fewer healthy red blood cells and anemia. 
• Symptoms: Symptoms vary from growth delays, delayed puberty, and bone abnormalities in mild cases to poor appetite, jaundice, dark urine, and facial bone deformities in severe cases.
• Types:
  • Alpha Thalassemia: A person inherits four genes (two from each parent) that produce alpha globin protein chains. Alpha thalassemia occurs when one or more of these genes are defective.
  • Beta Thalassemia: A person inherits two beta-globin genes (one from each parent). Beta thalassemia develops if one or both genes are defective.
• Burden: India, often called the Thalassemia capital of the world, has an estimated 100,000–150,000 children living with the disease, while approximately 42 million Indians carry the Beta-Thalassemia trait.
• Treatment: Treatment involves regular blood transfusions to maintain healthy red blood cell levels, combined with iron chelation therapy to prevent iron overload. 
  • In severe cases, a bone marrow or stem cell transplant can provide a potential cure.
• Initiatives for Eradication: 
  • Under the National Health Mission (NHM), States and UTs receive support for thalassemia screening, treatment, and infrastructure development. 
    • The government advises integrating thalassemia testing into the Reproductive and Child Health (RCH) program for early carrier detection and genetic counseling to reduce disease burden. 
  • The National Program for Prevention and Control of Hemoglobinopathies (NPPCH) promotes awareness and provides counseling and testing services for affected individuals. 
  • The Thalassemia Bal Sewa Yojana (TBSY) offers financial assistance for bone marrow transplants through Coal India Ltd.’s CSR in 17 empanelled hospitals nationwide.