Thalassemia is a genetic blood disorder in which the body makes an abnormal form or inadequate amount of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. The disorder results in large numbers of red blood cells being destroyed, which leads to anemia.
There are two main types of thalassemia:
- Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated).
- Beta thalassemia occurs when similar gene defects affect production of the beta globin protein.
The symptoms of thalassemia can vary. Some of the most common ones include:
- bone deformities, especially in the face
- dark urine
- delayed growth and development
- excessive tiredness and fatigue
- yellow or pale skin
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