Thalassemia is primarily caused by mutations in the genes responsible for producing hemoglobin, the protein in red blood cells that carries oxygen throughout the body. These genetic mutations affect the production of normal hemoglobin, leading to an imbalance in the production of alpha or beta globin chains. This imbalance results in the production of abnormal hemoglobin molecules, causing ineffective red blood cell production and leading to anemia.

Symptoms of thalassemia can vary depending on the type and severity of the condition. Common symptoms include:

1. Fatigue and weakness due to inadequate oxygen transport in the body.

2. Pale skin and jaundice (yellowing of the skin and eyes) resulting from increased destruction of red blood cells.

3. Shortness of breath, especially during physical activity, due to reduced oxygen-carrying capacity of the blood.

4. Delayed growth and development, particularly in children, due to chronic anemia.

5. Bone deformities and enlargement of the spleen and liver in severe cases, caused by the body's attempt to compensate for the decreased red blood cell production.

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