Diagnosis

Most children with moderate to severe thalassemia show signs and symptoms within their first two years of life. If your doctor suspects your child has thalassemia, he or she can confirm a diagnosis with blood tests.

Blood tests can reveal the number of red blood cells and abnormalities in size, shape or color. Blood tests can also be used for DNA analysis to look for mutated genes.

Prenatal testing

Testing can be done before a baby is born to find out if he or she has thalassemia and determine how severe it might be. Tests used to diagnose thalassemia in fetuses include:

  • Chorionic villus sampling. Usually done around the 11th week of pregnancy, this test involves removing a tiny piece of the placenta for evaluation.
  • Amniocentesis. Usually done around the 16th week of pregnancy, this test involves examining a sample of the fluid that surrounds the fetus.

Treatment

Mild forms of thalassemia trait don't need treatment.

For moderate to severe thalassemia, treatments might include:

  • Frequent blood transfusions. More severe forms of thalassemia often require frequent blood transfusions, possibly every few weeks. Over time, blood transfusions cause a buildup of iron in your blood, which can damage your heart, liver and other organs.
  • Chelation therapy. This is treatment to remove excess iron from your blood. Iron can build up as a result of regular transfusions. Some people with thalassemia who don't have regular transfusions can also develop excess iron. Removing the excess iron is vital for your health.

    To help rid your body of the extra iron, you might need to take an oral medication, such as deferasirox (Exjade, Jadenu) or deferiprone (Ferriprox). Another drug, deferoxamine (Desferal), is given by needle.

  • Stem cell transplant. Also called a bone marrow transplant, a stem cell transplant might be an option in some cases. For children with severe thalassemia, it can eliminate the need for lifelong blood transfusions and drugs to control iron overload.

    This procedure involves receiving infusions of stem cells from a compatible donor, usually a sibling.

Lifestyle and home remedies

You can help manage your thalassemia by following your treatment plan and adopting healthy-living habits.

  • Avoid excess iron. Unless your doctor recommends it, don't take vitamins or other supplements that contain iron.
  • Eat a healthy diet. Healthy eating can help you feel better and boost your energy. Your doctor might also recommend a folic acid supplement to help your body make new red blood cells.

    To keep your bones healthy, make sure your diet contains enough calcium and vitamin D. Ask your doctor what the right amounts are for you and whether you need a supplement.

    Ask your doctor about taking other supplements, as well, such as folic acid. It's a B vitamin that helps build red blood cells.

  • Avoid infections. Wash your hands frequently and avoid sick people. This is especially important if you've had your spleen removed.

    You'll also need an annual flu shot, as well as vaccines to prevent meningitis, pneumonia and hepatitis B. If you develop a fever or other signs and symptoms of an infection, see your doctor for treatment.

Coping and support

Coping with thalassemia, your own or your child's, can be challenging. Don't hesitate to ask for help. If you have questions or would like guidance, talk with a member of your health care team.

You might also benefit from joining a support group, which can provide both sympathetic listening and useful information. Ask a member of your health care team about groups in your area.

Preparing for your appointment

People with moderate to severe forms of thalassemia are usually diagnosed within the first two years of life. If you've noticed some of the signs and symptoms of thalassemia in your infant or child, see your family doctor or pediatrician. You may then be referred to a doctor who specializes in blood disorders (hematologist).

Here's some information to help you get ready for your appointment.

What you can do

Make a list of:

  • Your child's symptoms, including any that may seem unrelated to the reason for which you scheduled the appointment, and when they began
  • Family members who have had thalassemia
  • All medications, vitamins and other supplements your child takes, including doses
  • Questions to ask your doctor

For thalassemia, some questions to ask your doctor include:

  • What's the most likely cause of my child's symptoms?
  • Are there other possible causes?
  • What kinds of tests are needed?
  • What treatments are available?
  • What treatments do you recommend?
  • What are the most common side effects from each treatment?
  • How can this best be managed with other health conditions?
  • Are there dietary restrictions to follow? Do you recommend nutritional supplements?
  • Are there printed materials you can give me? What websites do you recommend?

Don't hesitate to ask other questions you have.

What to expect from your doctor

Your doctor is likely to ask you a number of questions, including:

  • Do symptoms occur all the time or come and go?
  • How severe are the symptoms?
  • Does anything seem to improve the symptoms?
  • What, if anything, appears to worsen the symptoms?
Nov. 22, 2019
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  2. Thalassemias. National Heart, Lung, and Blood Institute. https://www.nhlbi.nih.gov/health-topics/thalassemias. Accessed Oct. 6, 2019.
  3. AskMayoExpert. Thalassemia syndromes. Mayo Clinic; 2019.
  4. Benz EJ. Clinical manifestations and diagnosis of the thalassemia. https://www.uptodate.com/contents/search. Accessed Oct. 4, 2019.
  5. A guide to living with thalassemia. Centers for Disease Control. https://www.cdc.gov/ncbddd/thalassemia/living.html. Accessed Oct. 4, 2019.