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Thalassemia (Blood Disorder)

What is thalassemia?

Thalassemia is a blood problem that causes anemia. Anemia means that you do not have enough red blood cells or enough normal hemoglobin in the red blood cells to carry oxygen and bring it to the rest of the body. (Hemoglobin is the part of red blood cells that carries oxygen.)

What is the cause?

Thalassemia is caused by abnormal hemoglobin. Hemoglobin is made up of 2 proteins, alpha globin and beta globin. If the body cannot make enough of either of these 2 proteins, or if their structure isn't normal, the red blood cells cannot carry oxygen properly.

  • If the problem is with alpha globin, the disorder is called alpha thalassemia. This form mostly affects people from Southeast Asia. It usually does not cause serious health problems. However, babies with severe alpha thalassemia usually die before or shortly after birth.
  • If the problem is with the beta protein, it is called beta thalassemia. This form affects people of Mediterranean (Greek, Italian, Middle Eastern), Asian, or African descent. Cooley's anemia is a form of severe beta thalassemia.

Thalassemia is inherited; that is, it is passed from parents to children through their genes. People with moderate to severe forms of the disorder received genes from both parents. A child who inherits a thalassemia gene from one parent and a normal gene from the other parent is a carrier. Carriers often have few or no signs of illness, but they can pass the thalassemia gene on to their children.

What are the symptoms?

The symptoms depend on the type and severity of the disease. In more severe types, like Cooley's anemia, symptoms in early childhood may include:

  • Tiredness and weakness
  • Pale skin or jaundice (yellowing of the skin)
  • Large belly
  • Dark urine
  • Abnormal facial bones and slowed growth

How is it diagnosed?

Your child’s healthcare provider will ask about your child’s symptoms and medical history and examine your child. Your child will have blood tests. Taking a family history and testing the blood of family members may help make the diagnosis.

DNA testing during pregnancy with either amniocentesis or chorionic villus sampling can show if a baby has the disorder and how severe it is likely to be.

How is it treated?

Treatment depends on the type of thalassemia and how severe it is.

  • Children who are carriers usually have no symptoms and don’t need treatment.
  • Children with moderate forms of the disorder may need blood transfusions at times, like when they are under stress or have an infection.
  • A child with severe thalassemia needs:
    • Regular blood transfusions to give your child healthy blood cells from donors
    • Iron chelation therapy, which is medicine given to remove excess iron from the body because children with thalassemia can have too much iron in their body (iron overload)
    • Bone marrow transplants to give your child healthy blood-making cells from donors

Without treatment, severe thalassemia can lead to heart and liver problems.

How can I take care of my child?

  • Follow your child’s healthcare provider's instructions for treatment.
  • Ask your child’s provider:
    • How and when you will hear your child’s test results
    • How long it will take for your child to recover
    • What activities your child should avoid and when your child can return to normal activities
    • How to take care of your child at home
    • What symptoms or problems you should watch for and what to do if your child has them
  • Make sure you know when your child should come back for a checkup.
  • Make sure your child eats a healthy diet. Your healthcare provider may also recommend folic acid supplements. Children should not take vitamins or other supplements that contain iron. Iron supplements do not help this kind of anemia because a lack of iron is not the problem.
  • Children with thalassemia can get infections more easily. Make sure your child gets a flu shot every year and the pneumococcal vaccine to help prevent infections.
Developed by RelayHealth.
Pediatric Advisor 2013.2 published by RelayHealth.
Last modified: 2013-02-25
Last reviewed: 2013-02-07
This content is reviewed periodically and is subject to change as new health information becomes available. The information is intended to inform and educate and is not a replacement for medical evaluation, advice, diagnosis or treatment by a healthcare professional.
© 2013 RelayHealth and/or its affiliates. All rights reserved.
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