Thalassemia (Blood Disorder)

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KEY POINTS

• Thalassemia is a blood problem that causes your red blood cells to be unable to carry all of the oxygen the body needs.
• There a several types of thalassemia that can cause mild to severe symptoms.
• Treatment depends on the severity and can include blood transfusions, iron chelation therapy, or a bone marrow transplant.

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What is thalassemia?

Thalassemia is caused by a problem with the way the body makes hemoglobin. Hemoglobin is the part of red blood cells that carries oxygen to all parts of the body. When you have thalassemia, the red blood cells have less hemoglobin than normal. The cells don’t last as long in the blood stream as normal red blood cells, and this causes anemia. Anemia means that you don’t have enough red blood cells, or enough normal hemoglobin in the red blood cells, to carry all of the oxygen the body needs.

What is the cause?

Thalassemia is inherited, which means that it is passed from parents to children through their genes. Genes are inside each cell of the body. They contain the information that tells the body how to develop and work.

Thalassemia is caused by a problem with the genes that make hemoglobin. There are different forms of thalassemia, depending on which genes are affected.

Thalassemia is most common among people of Mediterranean descent, such as Italians and Greeks. It is also found among people from the Arabian Peninsula, Iran, Africa, Southeast Asia, India, and Southern China.

What are the symptoms?

The symptoms depend on the form and severity of the disease, and on treatments over time. Many adults with thalassemia have symptoms that may be caused by having several blood transfusions over time. A side effect of transfusions is iron overload that affects organs and bones. Symptoms may include:

• Pain in the back, head, or legs
• Trouble breathing
• Feeling very tired or weak
• Fast or irregular heartbeat

How is it diagnosed?

Your healthcare provider will ask about your symptoms and medical history and examine you. You may have blood tests to check for possible causes of your symptoms.

How is it treated?

Treatment depends on the type of thalassemia and how severe it is. The most common treatments include:

• Regular blood transfusions to give you healthy red blood cells
• Iron chelation therapy, which is medicine given to remove excess iron from the body caused by multiple blood transfusions
• Bone marrow transplants to give you healthy blood-making cells

How can I take care of myself?

Follow the full course of treatment prescribed by your healthcare provider. In addition:

• Eat a healthy diet. Your healthcare provider may also recommend folic acid supplements.
• Do not take vitamins or other supplements that contain iron. Iron supplements do not help this kind of anemia because a lack of iron is not the problem.
• Make sure you get a flu shot every year and the pneumococcal vaccine to help prevent infections.

Ask your provider:

• How and when you will get your test results
• If there are activities you should avoid and when you can return to your normal activities
• How to take care of yourself at home
• What symptoms or problems you should watch for and what to do if you have them

Make sure you know when you should come back for a checkup. Keep all appointments for provider visits or tests.