What is thalassemia?

Thalassemia (say: "thal-uh-SEE-mee-uh") is a name for a group of inherited blood disorders. When you have thalassemia, your body makes an abnormal type of hemoglobin. Hemoglobin is an iron-rich protein in red blood cells. It carries oxygen from your lungs to the rest of your body. Thalassemias can cause either a low number of red blood cells or not enough hemoglobin in the red blood cells. This can lead to mild or even severe anemia. Anemia interferes with your body’s ability to move oxygen from your lungs to all of your organs and limbs.

What are the symptoms of thalassemia?

If you have thalassemia minor, you won’t have any symptoms. Symptoms of major thalassemia can include the following:

• Paleness
• Tiredness or low energy
• Lightheadedness or shortness of breath
• Lack of appetite
• Dark urine
• Jaundice (yellowing of the skin and the whites of the eyes)
• In children, slow growth and delayed puberty
• Bone deformities in the face

Children who are born with thalassemia major may show signs of the disease right away, or these may appear later. Most signs and symptoms usually show up within the first 2 years of life. If your child has delayed growth, it’s important to find out if he or she might have thalassemia. Untreated thalassemia major can cause heart failure and infection.

What causes thalassemia?

You get thalassemia when you inherit a missing or damaged gene from one or both parents. There are two forms of inherited thalassemia:

• Thalassemia minor occurs when you inherit the problem from only one parent. If you have thalassemia minor, you will not have any symptoms even though you have a damaged or missing gene. This is known as being a “silent carrier” of thalassemia. If your partner also has thalassemia, you can pass it to your children.
• Thalassemia major develops when you inherit the problem from both parents. If both of your parents are carriers, you have a 25% risk of having the kind of thalassemia that will cause symptoms. If your parents are both carriers, you have a 50% risk of becoming a carrier yourself.

There are two types of thalassemia: alpha thalassemia and beta thalassemia. These are named for alpha-globin and beta-globin, the proteins that make up normal hemoglobin. The type of thalassemia you have depends on what kind of genes you inherit from your parents. If you inherit more than one damaged gene, your thalassemia may be more severe.

Who is at risk for thalassemia?

Thalassemia can affect both men and women. Certain ethnic groups are at greater risk.

• Alpha thalassemia most often affects people who are of Southeast Asian, Indian, Chinese or Filipino descent.
• Beta thalassemia most often affects people who are of Mediterranean (Greek, Italian and Middle Eastern), Asian or African descent.

How is thalassemia diagnosed?

If your doctor thinks you or your child might have thalassemia, he’ll do a physical exam and ask about your medical history. Thalassemia can only be diagnosed with blood tests. Doctors use several different types of blood tests to look for thalassemia. Some tests measure the number and size of red blood cells, or the amount of iron in the blood. Others look at the hemoglobin within the red blood cells. DNA testing helps doctors identify which genes are missing or damaged.

How is thalassemia treated?

Treatment for thalassemia depends on which type you have and if it is severe. If you are a carrier or have a mild type, you may need little or no treatment.

Treatment for thalassemia major often includes regular blood transfusions and folate supplements. Folate (also called folic acid) helps your body make healthy blood cells. Alpha thalassemia can sometimes be mistaken for low-iron anemia, and iron supplements may be recommended as a treatment. But iron supplements have no effect on thalassemia.

If you have many blood transfusions, too much iron may build up in your blood. If this happens, you will need chelation (say "key-LAY-shun") therapy to remove extra iron from your body. You shouldn’t take iron supplements if you receive blood transfusions.

In the most severe cases, bone marrow or stem cell transplants may help by replacing damaged cells with healthy ones from a donor (usually a relative such as a brother or sister).

How can I cope with thalassemia?

Although you can’t prevent inheriting thalassemia, you can manage the disease so you can have the best quality of life possible. Key steps include:

• Follow your treatment plan. Get blood transfusions as often as your doctor recommends. Make sure to take your iron chelation medicine and/or folic acid supplements.
• Get ongoing medical care. Have regular medical checkups and get the medical tests your doctor suggests. These may include tests relating to thalassemia, as well as your overall health. Be sure to get any vaccinations for flu, pneumonia, hepatitis B and meningitis that your doctor recommends.
• Take care of yourself. Follow a healthy eating plan. Lower your chance of getting an infection by washing your hands often, and avoiding crowds during flu and cold season. Keep the area around your transfusion site clean. Call your doctor if you develop a fever or other signs of infection.
• Look for information and support. Join a support group or talk with others who have the disease to learn coping strategies. Be sure to discuss any changes in your treatment plan with your doctor.

What are the complications of thalassemia?

Thalassemia can lead to other health problems:

• An enlarged spleen. Your spleen helps your body fight infections and filters out damaged blood cells. If you have thalassemia, your spleen may have to work harder than normal, which can cause it to enlarge. If your spleen becomes too large, it may have to be removed.
• Infections. People who have thalassemia are more likely to get blood infections, especially if they have a lot of blood transfusions. Infections can also be worse if you’ve had your spleen removed.
• Bone problems. Thalassemia can cause bone deformities in the face and skull. People who have thalassemia may also have severe osteoporosis (brittle bones).
• Too much iron in your blood. This can cause damage to the heart, liver or endocrine system.

What should I do if I’m a carrier of thalassemia and I want to get pregnant?

Some severe types of thalassemia can cause babies to die before they are born or soon after. If you or your partner knows you are a carrier for thalassemia, you may want to talk to your doctor or a genetic counselor before getting pregnant. Certain tests may be able to show which type of thalassemia you are carrying. Once you are pregnant, prenatal testing can show whether or not your baby has thalassemia.

• My parent had thalassemia. Am I at risk too?
• What are the symptoms of thalassemia?
• How is thalassemia treated? Is there a cure?
• How do I know if my condition is getting worse?
• Can I pass thalassemia on to my child?
• What are the risks and benefits of genetic counseling?