What is beta thalassemia in children?

Beta thalassemia is an inherited blood disorder. This means it is passed down through the parent’s genes. It is a form of anemia. Anemia is a low red blood cell or low hemoglobin level. Hemoglobin is part of red blood cells. It carries oxygen to organs, tissues, and cells. Beta thalassemia affects the production of hemoglobin.

There are different types of thalassemia. The severity of anemia depends on the type your child has.

What causes beta thalassemia in a child?

Beta thalassemia is caused by a defect of the gene that controls hemoglobin production. There are 3 types:

Beta thalassemia major (Cooley’s anemia). This is the most severe type of beta thalassemia. It is often found during the first 2 years of life. Children often need frequent blood transfusions. This can cause serious problems with iron overload.

Beta thalassemia intermedia. This type of thalassemia is common throughout the world. It results from the abnormal hemoglobin within the red blood cells. Because it is a less severe type, it is often found at a later age than beta thalassemia major. Transfusions are usually not needed.

Thalassemia minor or thalassemia trait. These are the carriers of beta thalassemia.

Which children are at risk for beta thalassemia?

Beta thalassemia is an inherited problem. It is passed from parents to children. Depending on the specific type of thalassemia a parent has, that person’s children have different chances that they will also have the disorder or be a carrier for it. It’s important for carriers of the thalassemia gene to know how their children may be affected. They should talk with a healthcare provider.

The gene defect that causes beta thalassemia is more common in the following people:

Greek

Italian

Middle Eastern

South Asian

African

What are the symptoms of beta thalassemia in a child?

The symptoms of beta thalassemia major occur when an infant is between 6 and 24 months. They include:

Poor growth and development

Pale skin

Feeding problems

Diarrhea

Irritability, fussiness

Fevers

Enlarged abdomen from enlarged spleen

Dark urine

Jaundice, or yellowing of the eyes and skin

The symptoms of beta thalassemia intermedia happen at a later age and may include:

Children with beta thalassemia minor may have mild anemia, but they often do not have symptoms.

How is beta thalassemia diagnosed in a child?

The healthcare provider will ask about your child’s symptoms and health history. They will give your child a physical exam. Your child may also have blood and genetic tests, such as:

Complete blood count. A complete blood count checks the red and white blood cells, blood clotting cells (platelets), and sometimes, young red blood cells. It includes hemoglobin and hematocrit and more details about the red blood cells.

Peripheral smear. A small sample of blood is checked under a microscope to see if they look abnormal.

Hemoglobin electrophoresis. This test measures the types and amount of hemoglobin.

Iron studies. These studies check for iron deficiency anemia. This condition may be confused with beta thalassemia.

DNA testing. These tests look for gene defects. DNA testing can find out whether it is alpha or beta thalassemia.

How is beta thalassemia treated in a child?

Treatment will depend on your child’s symptoms, age, and general health. It will also depend on how severe the condition is.

Your child’s healthcare provider will likely send your child to a hematologist. This is an expert in blood disorders. Treatment for beta thalassemia depends on the type. Your child may have to take daily doses of folic acid, a vitamin needed to make hemoglobin. Treatment may also include:

For beta thalassemia major:
- Regular blood transfusions (your child gets healthy blood from a donor)
- Medicines (to cut the amount of iron in the body, called chelation therapy)
- Stem cell or cord blood transplant
- Other therapies under study, including gene therapy

For beta thalassemia intermedia:

For beta thalassemia minor:

What are possible complications of beta thalassemia in a child?

Complications from frequent transfusions may happen when a child is about 10 or 11 years old. They are from having too much iron. The complications include:

Delayed growth and development, including sexual development

Heart, liver, and spleen problems

Endocrine system problems (for example, diabetes or thyroid problems)

Blood clots

Osteoporosis

Children with beta thalassemia intermedia may also have complications from iron overload.

How can I help my child live with beta thalassemia?

The ongoing care of your child should include:

Talk with your healthcare provider about genetic counseling.

When should I call my child’s healthcare provider?

Each child’s symptoms and treatment are different. Make sure you understand your child’s symptoms and treatment, including possible side effects. Call your child’s healthcare provider if you notice any changes or have questions. For example, call the provider if any of the following occur:

Key points about beta thalassemia in children

Beta thalassemia is an inherited blood disorder in which a child has anemia.

It is caused by genetic defects that control the production of hemoglobin.

The types are beta thalassemia major, intermedia, and minor.

Treatment may include regular blood transfusions.

Treatment for iron overload is needed after years of transfusions.

Next steps

Tips to help you get the most from a visit to your child’s healthcare provider:

Know the reason for the visit and what you want to happen.

Before your visit, write down questions you want answered.

At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.

Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are.

Ask if your child’s condition can be treated in other ways.

Know why a test or procedure is recommended and what the results could mean.

Know what to expect if your child does not take the medicine or have the test or procedure.

If your child has a follow-up appointment, write down the date, time, and purpose for that visit.

Know how you can contact your child’s provider after office hours. This is important if your child becomes ill and you have questions or need advice.