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What is thalassemia?

Thalassemia is a blood disorder. It causes anemia. Anemia means that you do not have enough red blood cells to carry oxygen in the blood and deliver it to the rest of the body.

Thalassemia is due to less hemoglobin than normal. Hemoglobin is the part of red blood cells that carries oxygen. It is made up of 2 proteins, alpha and beta. 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 the alpha protein, the disorder is called alpha thalassemia. This form mostly affects people of Southeast Asian, Indian, Chinese, or Filipino ancestry. This form may be very mild and may not cause serious health problem. 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.

Severe beta thalassemia is often called Cooley's anemia. Cooley's anemia is the most common severe form of thalassemia in the US.

What is the cause?

Thalassemia is passed from parents to children. 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 normal genes from the other parent is a carrier. Carriers often have few or no signs of illness, but they can pass the genes on to their children.

What are the symptoms?

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

  • tiredness and weakness
  • pale skin or jaundice (yellowing of the skin)
  • large abdomen, with enlarged spleen and liver
  • dark urine
  • abnormal facial bones and poor growth

How is it diagnosed?

Thalassemia is diagnosed using blood tests. Taking a family history and doing blood tests on family members may also help make the diagnosis. Prenatal testing can find out if an unborn baby has the disorder and how severe it is likely to be.

Cooley's anemia is usually diagnosed in early childhood. Your child should be tested if he has anemia and is a member of an ethnic group that is at risk.

How is it treated?

Treatment depends on which type your child has, and on how severe it is.

  • Children who are carriers usually have no symptoms and do not need treatment.
  • Those with moderate forms of the disorder may need blood transfusions at times, such as when they are under stress or have an infection.
  • Those with severe thalassemia have a serious illness. They need regular blood transfusions, iron chelation therapy, and bone marrow transplants. Without treatment, children with severe thalassemia do not live beyond early childhood. With treatment, they may live into their forties.

How can I help my child?

  • Take your child in for regular checkups. Follow your healthcare provider's instructions for treatment.
  • 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. Lack of iron is not the problem.
  • Make sure your child gets a flu shot every year and the pneumococcal vaccine to prevent infections. Infections can worsen their disorder.
Developed by RelayHealth.
Published by RelayHealth.
Last modified: 2009-11-10
Last reviewed: 2009-11-05
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.
2010 RelayHealth and/or its affiliates. All Rights Reserved.
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