When Your Child Has Beta Thalassemia

Beta thalassemia is a blood disorder. It affects the production of a protein in the red blood cells (RBCs). This protein, called hemoglobin, allows RBCs to carry oxygen to all parts of the body. Hemoglobin is made up of smaller parts, including alpha globin and beta globin. When problems with beta globin lead to less hemoglobin in the blood, the condition is called beta thalassemia. Beta thalassemia can cause anemia (not enough healthy hemoglobin in the blood). Your child has been diagnosed with beta thalassemia. Your child’s health care provider can discuss treatment options with you.

 Structure of normal hemoglobin molecule.

 Structure of hemoglobin molecule with beta thalassemia.

Who is at risk of beta thalassemia?

This condition affects certain groups more often than others. This includes people of Mediterranean, African, and Middle Eastern descent.

What causes beta thalassemia?

Beta thalassemia is inherited. This means that the beta globin genes are passed from parent to child. There are 2 genes total. Problems with one or both genes can lead to different types of beta thalassemia including:

  • Beta thalassemia minor (also called beta thalassemia trait). This type occurs when only one gene is affected. It may cause mild anemia.  

  • Beta thalassemia intermedia. This type can occur when both genes are involved. It is likely to cause anemia in early childhood. It may also cause other problems such as an enlarged spleen or liver.

  • Beta thalassemia major (also called Cooley’s anemia). This type can also occur when both genes are involved. It is the most severe type of beta thalassemia. It is likely to cause severe anemia that requires blood transfusions. It can also cause problems with organs such as the liver, spleen, heart, and bones.

Parents and siblings of a child with beta thalassemia should be tested for the condition too. A genetic counselor can answer questions you may have.

What are the symptoms of beta thalassemia?

The symptoms of beta thalassemia depend on the type. Most children with beta thalassemia minor have few or no symptoms. Children with intermedia or major may have symptoms that range from mild to severe. These may include:

  • Pale skin

  • Crankiness

  • Weakness

  • Tiredness

  • Shortness of breath

  • Trouble doing normal amounts of exercise (exercise intolerance)

  • Fast heartbeat

  • Dizziness or fainting

  • Jaundice (yellowing of the eyes, skin, or mouth; dark urine)

  • Slowed growth

  • Weak bones

  • Stomach pain

How is beta thalassemia diagnosed?

Your child will likely see a pediatric hematologist. This is a doctor who specializes in blood disorders (hematology). The doctor will examine your child. He or she will ask about your child’s symptoms and health history. Tests will also be done. Most of the tests require taking a blood sample from a vein in the arm or from a finger or heel. Tests may include:

  • A complete blood cell count (CBC) to measure the amounts of types of cells in the blood, especially RBCs.

  • A blood smear to check the sizes and shapes of the blood cells. A drop of blood is looked at under a microscope. A stain is added to make the parts of the blood cells easier to see.

  • Hemoglobin electrophoresis to check for the amounts and types of hemoglobin in the blood.

  • Other genetic or lab tests to evaluate the hemoglobin in the blood.

How is beta thalassemia treated?

Most children with beta thalassemia minor need no treatment. Children with beta thalassemia intermedia or major likely need regular medical care. Treatment may include:

  • Regular doctor visits for routine checkups and blood count tests.

  • Blood transfusions when your child’s blood cell count is too low. Most children with beta thalassemia major must have regular blood transfusions to stay healthy. As a result of frequent transfusions, iron can build up in the blood. This can cause health problems. Because of this, a treatment called chelation is also done to remove excess iron from the body.

  • Folate supplements to help the body build more RBCs.

  • Surgery to remove the spleen or gallbladder. The spleen is an organ that stores extra blood and helps remove old RBCs from the body. Though done less often, removing the spleen may sometimes be needed. Also, surgery to remove the gallbladder may be needed if gallstones form.

  • Bone marrow transplant. In rare cases, this treatment may be done for children with severe symptoms. Diseased bone marrow cells are replaced with healthy cells from a matched donor. You’ll be told more about this treatment if it is needed.

What are the long-term concerns?

  • Beta thalassemia is a lifelong condition. Work with your child’s doctor to learn how to help your child.

  • Parents who both have beta thalassemia trait can have a child with more severe disease. Talk to a genetic counselor for more information.


Coping with your child’s condition

A positive outlook helps while supporting your child. Consider counseling, which can help you and your child deal with any worries or concerns. And seek help from family, friends, community resources, or support groups. Many hospitals also have child life programs, which are designed to help children cope with illness. A hospital social worker can also answer questions and refer you to other support services, if needed. Learning more about your child’s condition and its treatments can help you feel more in control.