What Are the Signs and Symptoms of Thalassemias?

Signs and symptoms of thalassemias are due to lack of oxygen in the bloodstream. This occurs because the body doesn't make enough healthy red blood cells and hemoglobin. The severity of symptoms depends on the severity of the disorder.

No Symptoms

Alpha thalassemia silent carriers generally have no signs or symptoms of the disorder. This is because the lack of alpha globin protein is so small that hemoglobin works normally.

Mild Anemia

People who have alpha or beta thalassemia trait can have mild anemia. However, many people with this type of thalassemia have no signs or symptoms.

Mild anemia can make you feel tired. It's often mistaken for iron-deficiency anemia.

Mild to Moderate Anemia and Other Signs and Symptoms

People with beta thalassemia intermedia have mild to moderate anemia. They also may have other health problems, such as:

• Slowed growth and delayed puberty. Anemia can slow down a child's growth and development.
• Bone problems. Thalassemia may make bone marrow (the spongy material inside bones that makes blood cells) expand. This causes wider bones than normal. Bones also may be brittle and break easily.
• An enlarged spleen. The spleen is an organ that helps your body fight infection and remove unwanted material. When a person has a thalassemia, the spleen has to work very hard. As a result, the spleen becomes larger than normal. This makes anemia worse. If the spleen becomes too large, it must be removed.

Severe Anemia and Other Signs and Symptoms

People with hemoglobin H disease or beta thalassemia major (also called Cooley's anemia) have severe thalassemia. Signs and symptoms occur within the first 2 years of life. They may include severe anemia and other serious health problems, such as:

• Pale and listless appearance
• Poor appetite
• Dark urine
• Slowed growth and delayed puberty
• Jaundice (a yellowish color of the skin or whites of the eyes)
• Enlarged spleen, liver, and heart
• Bone problems (especially bones in the face)

Complications of Thalassemias

Better treatments now allow people who have moderate and severe thalassemias to live much longer. As a result, these people must cope with complications of the disorder that occur over time.

Heart and Liver Disease

Regular blood transfusions are a standard treatment for thalassemias. (See "How Are Thalassemias Treated?") As a result, iron can build up in the blood. This can damage organs and tissues, especially the heart and liver.

Heart disease caused by iron overload is the main cause of death in people who have thalassemias. Heart disease includes heart failure, arrhythmias (irregular heartbeats), and heart attack.

Infection

Among people who have thalassemias, infections are a key cause of illness and the second most common cause of death. People who have had their spleens removed are at even higher risk, because they no longer have this infection-fighting organ.

Osteoporosis

Many people who have thalassemias have bone problems, including osteoporosis (OS-te-o-po-RO-sis). This is a condition in which bones are weak and brittle and break easily.