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Thalassemia

Written by the Fiveable Content Team • Last updated September 2025
Written by the Fiveable Content Team • Last updated September 2025

Definition

Thalassemia is a genetic blood disorder characterized by the body’s inability to produce sufficient amounts of hemoglobin, leading to anemia. This condition affects the transportation of oxygen in the blood.

5 Must Know Facts For Your Next Test

  1. Thalassemia results from mutations in the genes responsible for hemoglobin production, affecting oxygen transport.
  2. There are two main types: alpha thalassemia and beta thalassemia, depending on which part of the hemoglobin molecule is affected.
  3. Individuals with severe thalassemia may require regular blood transfusions to maintain adequate hemoglobin levels.
  4. Iron overload is a common complication due to frequent blood transfusions, requiring chelation therapy to remove excess iron.
  5. Symptoms include fatigue, weakness, pale or yellowish skin, facial bone deformities, slow growth, and abdominal swelling.

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