Symptoms of Thalassemia

People who are carriers of thalassemia trait (alpha or beta) generally do not have any thalassemia symptoms. However, a mild form of anemia may be present, usually diagnosed through a blood test. Severe symptoms that may occur in someone with thalassemia include fatigue, pale skin, protruding abdomen, dark urine, and abnormal facial bones.

Thalassemia anemia

Signs and 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).

Thalassemia Symptoms in Carriers

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

Severe Symptoms

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.