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Thalassemia Symptoms and Causes

Thalassemia is a blood disorder passed down through families in which the body makes an abnormal form of hemoglobin, the protein in red blood cells that carries oxygen. The disorder results in excessive destruction of red blood cells, which leads to anemia.


Mild symptoms occur in most people; but, if the disease was inherited from both parents, they can be more severe and appear between 4-6 months of age. Symptoms may include pale skin, shortness of breath on mild exertion, swelling of the abdomen due to an enlarged spleen and liver. Affected children have slow growth; sexual development is delayed; the bones of the skull and face may thicken.


An inherited genetic defect prevents the normal formation of hemoglobin. The body tries to compensate by producing additional red blood cells, which causes a thickening of the bones (and may include those of the skull and face). The liver and spleen may become enlarged. Thalassemia primarily occurs in people from the Mediterranean, Middle East, Southeast Asia, and Africa. Those with mild symptoms can lead a fairly normal life.

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