Thalassemia

Most children with moderate to severe thalassemia show symptoms within their first two years of life. If your child's health care professional thinks your child might have thalassemia, blood tests can confirm it.

Blood tests can reveal the number of red blood cells and irregular changes in their size, shape or color. Blood tests also can be used to look for gene changes in DNA.

Prenatal testing

Testing can be done before a baby is born to find out if the baby has thalassemia. Testing also can determine how serious the condition might be. Tests used to find thalassemia in unborn babies include:

• Chorionic villus sampling. This test involves removing a tiny piece of the placenta. The placenta is the organ that forms during pregnancy to give a baby oxygen and nutrients in the womb. Once removed, the placenta sample is checked by a lab. Most often, it's done around the 11th week of pregnancy.
• Amniocentesis. This test involves checking a sample of the fluid that surrounds the unborn baby in the womb. The test usually is done around the 16th week of pregnancy.

Mild forms of thalassemia trait don't need treatment.

For moderate to severe thalassemia, treatments might include:

• Frequent blood transfusions. It's common to need these. Some people need them as often as every few weeks. Over time, blood transfusions cause a buildup of iron in blood. That can damage the heart, liver and other organs.

• Chelation therapy. This treatment removes extra iron from the blood. Iron can build up due to regular transfusions. Some people with thalassemia who don't have regular transfusions also can 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 medicine by mouth. The medicines include deferasirox (Exjade, Jadenu) or deferiprone (Ferriprox). Another drug called deferoxamine (Desferal) is given through a needle in a vein.

• Other medicines. A medicine given by shot called luspatercept (Reblozyl) helps some people need fewer blood transfusions. A medicine taken by mouth called hydroxyurea (Hydrea, Droxia) can lower the chances of getting other health problems because of thalassemia.

• Stem cell transplant. This also is called a bone marrow transplant. Sometimes, it might be a treatment option. For children with severe thalassemia, it can get rid of the need for lifelong blood transfusions and drugs to control iron overload.

  A stem cell transplant involves receiving infusions of stem cells from a donor with matching cells, often a healthy sibling.

Follow your thalassemia treatment plan and practice these healthy habits.

• Do not take in extra iron. Don't take vitamins or other supplements that contain iron unless your health care professional recommends them. Also, ask if you should limit foods that have lots of iron. These include meat, fish, spinach, and some cereals and orange juices.

• Eat a healthy diet. Healthy eating can help you feel better and boost your energy. Your health care professional also might recommend a folic acid supplement. This helps your body make new red blood cells.

  To keep your bones healthy, make sure you get enough calcium and vitamin D. Ask your health care team what the right amounts are for you and whether you need a supplement.

• Lower your risk of infections. Wash your hands often, and stay away from sick people. This is key, especially if you've had your spleen removed.

  Stay up to date on your flu and COVID-19 vaccines too. Also get vaccines to prevent meningitis, pneumonia and hepatitis B. If you run a fever or have other symptoms of an infection, see your health care professional for treatment.

• Get regular exercise. If you're not active now, ask your health care team to help you get started. You might be told to try heart-healthy aerobic exercises such as walking, biking or jogging. If you have joint pain, you could try gentle activities such as yoga, swimming or water aerobics.

If you or your child has thalassemia, reach out for help when you need it. A member of your health care team can answer your questions or offer advice.

You also could think about joining a support group. This helps you meet other people affected by thalassemia. They can listen to your experiences, and they might be able to offer useful information. Ask a member of your health care team about groups in your area.

Most often, tests find moderate to severe forms of thalassemia within the first two years of life. If you've noticed some of the symptoms of thalassemia in your infant or child, see your child's pediatrician or the health care professional who cares for your family. You may be referred to a doctor who finds and treats blood disorders, called a 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. Include any that may not seem related to the reason for the checkup. Also note when the symptoms began.
• Family members who have had thalassemia.
• All medicines, vitamins and other supplements your child takes. Include the amount of each, called the dose.
• Questions to ask your health care professional.

For thalassemia, some questions to ask your health care team 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 of each treatment?
• How can this best be managed with other health conditions?
• Are there dietary restrictions to follow? Do you recommend supplements?
• Are there printed materials you can give me? What websites do you recommend?

Feel free to ask other questions you have.

What to expect from your doctor

Your health care professional is likely to ask you questions such as:

• Do the symptoms happen all the time or come and go?
• How bad are the symptoms?
• Does anything seem to make the symptoms better?
• What, if anything, seems to make the symptoms worse?