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What is thalassemia?

Thalassemia is a blood disorder that causes mild or severe anemia. Anemia means not having enough red blood cells to carry oxygen in the blood and deliver it to the rest of the body. Thalassemia is due to both less hemoglobin and fewer red blood cells 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 globin part of hemoglobin, the disorder is called alpha thalassemia. Alpha thalassemias mostly affect people of Southeast Asian, Indian, Chinese, or Filipino ancestry. Alpha thalassemia 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 globin part, it is called beta thalassemia. Beta thalassemias affect people of Mediterranean ancestry (Greek, Italian, Middle Eastern) and people of Asian and African descent.

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

What is the cause?

Thalassemia is inherited (passed from parents to children). People with moderate to severe forms of thalassemia received genes from both parents. A person 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 thalassemia and how severe it is likely to be.

Cooley's anemia is usually diagnosed in early childhood. Health care providers suspect thalassemia if a child has anemia and is a member of an ethnic group that is at risk.

How is it treated?

Treatment for thalassemia depends on the type and severity of the disease.

  • People who are carriers usually have no symptoms and do not need treatment.
  • Those with moderate forms of thalassemia 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?

  • See your child's health care provider regularly for checkups and treatment.
  • Make sure your child eats a healthy diet. Your health care provider may also recommend folic acid supplements. Children should not take vitamins or other supplements containing iron. Iron supplements do not help thalassemia, because missing 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 anemia.
Developed by McKesson Corporation.
Published by McKesson Provider Technologies.
Last modified: 2006-11-21
Last reviewed: 2006-08-31
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.
Copyright 2006 McKesson Corporation and/or one of its subsidiaries. All Rights Reserved.
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