Symptoms of Thalassemia

People who are carriers of thalassemia trait (alpha or beta) generally do not have any symptoms of thalassemia. However, a mild form of anemia may be present, usually diagnosed through a blood test. Severe symptoms of thalassemia include fatigue, pale skin, protruding abdomen, dark urine, and abnormal facial bones. Symptoms tend to vary based on the form of the disease and its severity.

 

Symptoms of Thalassemia: An Introduction

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

Carrier Symptoms of Thalassemia

People with alpha thalassemia trait or beta thalassemia trait (also called carriers) usually have no symptoms of thalassemia. However, people with alpha or beta thalassemia trait often have mild anemia that may be found by a blood test.
 

Severe Symptoms of Thalassemia

In more severe types of thalassemia, such as Cooley's anemia, symptoms may include:
 
  • Fatigue 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.
 
Infants who have the most severe type of alpha thalassemia (hydrops fetalis) generally die either before or soon after birth.
Written by/reviewed by: Arthur Schoenstadt, MD
Last reviewed by: Arthur Schoenstadt, MD