Thalassemia

Alternative Names

Mediterranean anemia, Cooley's anemia, Beta thalassemia, Alpha thalassemia

What is Thalassemia

Thalassemia is an inherited blood disorder characterized by less hemoglobin and fewer red blood cells in the body than normal. There are several types of thalassemia: alpha-thalassemia, beta-thalassemia, Cooley's anemia and Mediterranean anemia.

If you have mild thalassemia, treatment is not needed. But, if you have a more severe form of thalassemia, you may need regular blood transfusions. You can also take steps on your own to cope with fatigue, such as choosing a healthy diet and exercising regularly.

Signs and symptoms

Signs and symptoms of thalassemia include the following:

• Fatigue
• Weakness
• Shortness of breath
• Pale appearance
• Irritability
• Yellow discoloration of skin (jaundice)
• Facial bone deformities
• Slow growth
• Protruding abdomen
• Dark urine

The signs and symptoms depend on the type and severity of thalassemia. Some babies show signs and symptoms of thalassemia at birth. Others may develop signs or symptoms later, during the first two years of life. Some people who have only one affected hemoglobin gene don't experience any thalassemia symptoms.

Possible complications

Possible complications of thalassemia include:

• Iron overload. People with thalassemia can get too much iron in their bodies, either from the disease itself or from frequent blood transfusions. Too much iron can result in damage to your heart, liver and endocrine system, which includes glands that produce hormones that regulate processes throughout your body.
• Infection. Thalassemia increases the risk of developing a blood-borne infection related to blood transfusions, such as hepatitis, which is a virus that can damage liver.

If thalassemia is severe, the following complications can occur:

• Bone deformities. Thalassemia can make your bone marrow expand, which causes your bones to widen. This can result in abnormal bone structure, especially in your face and skull. Bone marrow expansion also makes bones thin and brittle, increasing the chance of broken bones, particularly in your spine. Spine factures can result in compression of your spinal cord.
• Enlarged spleen (splenomegaly). The spleen helps your body fight infection and filter unwanted material, such as old or damaged blood cells. Thalassemia often destroys a large number of red blood cells, making your spleen work harder than normal, causing it to enlarge. Splenomegaly can make anemia worse, and it can reduce the life of transfused red blood cells. If your spleen grows too big, it may need to be removed.
• Slowed growth rates. Anemia can cause a child's growth to slow. Children with severe thalassemia rarely reach a normal adult height. Due to endocrine problems, puberty also may be delayed in these children.
• Heart problems. Heart problems, such as congestive heart failure and abnormal heart rhythms (arrhythmias), may be associated with severe thalassemia.

What causes

Thalassemia occurs when there are variant or missing genes that affect how your body makes hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen to other parts of the body. People who have thalassemia make less hemoglobin and have fewer circulating red blood cells than normal, which results in mild or severe anemia.

Prevention

Sometimes thalassemia cannot be prevented. If you have thalassemia, or if you carry a thalassemia gene, consider talking with a genetic counselor for guidance before you have or father a child.

Treatment

Treatment depends on how severe thalassemia is. The most common form is mild thalassemia and it does not need treatment.

Moderate thalassemia may be treated with blood transfusions and folic acid supplements. Folic acid is a vitamin that your body needs to produce red blood cells.

Severe thalassemia may be treated with:

• Blood transfusions.
• Folic acid.
• Surgery to remove the spleen.
• A blood or bone marrow stem cell transplant, in rare cases.

If you have repeated blood transfusions your body can get too much iron. This can damage your organs, especially the liver. Make sure to avoid vitamins that contain iron, and don't take extra vitamin C, which can increase how much iron you absorb from food. If you have too much iron, your doctor may give you chelation therapy. This is a medicine that helps remove iron from your body.

Get a flu vaccine each year. Consult your doctor about getting a pneumococcal vaccine. These vaccines may protect you from severe infections, which can make anemia worse and cause severe illness in people with thalassemia.