What Are the Signs and Symptoms of Thalassemia?

The symptoms of thalassemia depend on the type and severity of the disease. Symptoms occur when not enough oxygen gets to various parts of the body due to low hemoglobin and a shortage of red blood cells in the blood (anemia).

“Silent carriers” and persons with alpha thalassemia trait or beta thalassemia trait (also called carriers) usually have no symptoms. Those with alpha or beta thalassemia trait often have mild anemia that may be found by a blood test.

In more severe types of thalassemia, such as Cooley’s anemia, signs of the severe anemia are seen in early childhood and may include:

• Fatigue (feeling tired) and weakness
• Pale skin or jaundice (yellowing of the skin)
• Protruding abdomen, with enlarged spleen and liver
• Dark urine
• Abnormal facial bones and poor growth

Babies with all four genes affected (a condition called alpha thalassemia major, or hydrops fetalis) usually die before or shortly after birth.