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Question

Write it in 150 words :- Symptoms, causes and treatment of thalassemia

This question was previously asked in
UPSC CSE 2025 (Prelims) CSAT Official Paper (25-May-2025)

Thalassemia is an inherited blood disorder that impairs the body’s ability to produce normal hemoglobin, the protein responsible for carrying oxygen in red blood cells. This disruption leads to anemia, fatigue, pale skin, jaundice, bone deformities, and delayed growth, particularly in individuals with thalassemia major, the severe form of the disease. Thalassemia arises from mutations in the genes encoding the alpha (HBA) or beta (HBB) chains of hemoglobin, inherited in a recessive manner, resulting in reduced or defective hemoglobin and ineffective red blood cells. Treatment depends on the disorder’s severity. Patients with thalassemia major often require regular blood transfusions to manage anemia, accompanied by iron chelation therapy, such as deferoxamine, to prevent harmful iron accumulation in organs. Folic acid supplements support red blood cell production. In some cases, bone marrow transplantation can offer a potential cure. Individuals with thalassemia minor usually experience mild symptoms and require only periodic monitoring. Genetic counseling is crucial for carriers to understand inheritance risks and guide family planning decisions.

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