Thalassemia

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.

Review Questions

• What are the main types of thalassemia and how do they affect hemoglobin?
• How does thalassemia impact the transport of gases in human bodily fluids?
• What treatments are used for managing symptoms and complications of severe thalassemia?

Related terms

Hemoglobin:

A protein in red blood cells responsible for transporting oxygen from the lungs to tissues and organs.

Anemia: A condition where there is a deficiency of red cells or hemoglobin in the blood, leading to fatigue and weakness.

Chelation Therapy: A treatment used to remove excess iron from the body, commonly used for patients with iron overload due to frequent blood transfusions.