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Topic Overview
What is thalassemia?
Thalassemia (say "thal-uh-SEE-mee-uh") is an
inherited blood disorder that causes the body to produce less
hemoglobin.
Hemoglobin
helps red blood cells spread oxygen all
through your body. Low levels of hemoglobin may cause anemia, an illness that
makes you feel weak and tired. Severe cases of anemia may damage organs and
result in death.
What causes thalassemia?
A defect in one or more genes causes thalassemia. It is an inherited blood disorder, passed from parent to child. Both parents must carry a gene for the disease in order to pass it to their child.
What are the types of thalassemia?
Alpha thalassemia and beta thalassemia are the two main types of the disease. Beta is the most common form. A "carrier" has one normal gene and one thalassemia gene in all body cells, a state sometimes called "thalassemia trait." Most carriers lead completely normal, healthy lives.
Beta thalassemia
Beta thalassemia occurs when one or both of the genes that produce beta-globin don't work or only partly work the way they should. People need both alpha- and beta-globin to make hemoglobin. Beta thalassemia mainly affects people from the region around the Mediterranean Sea (such as Greeks and Italians) and, less often, people of African or Asian descent.
There are several subtypes of beta thalassemia. Which type you have depends upon whether one or both genes are affected and whether those genes still produce some working beta-globin.
- If you carry the genetic trait for thalassemia or have one damaged beta-globin gene, you may have mild anemia and probably will not need treatment. This condition is called beta thalassemia minor or beta thalassemia trait . You have thalassemia trait when you inherit a normal gene from one parent and a thalassemia gene from the other.
- When both beta-globin genes are
damaged, moderate or severe anemia may develop. In this situation, you have
inherited a thalassemia gene from each parent.
- If you have moderate anemia (beta thalassemia intermedia ), you may need blood transfusions. People who have beta thalassemia intermedia usually live into adulthood.
- People with severe anemia (called beta thalassemia major or Cooley's anemia ) usually will not live into adulthood without treatment. Symptoms of anemia usually develop within 6 months of birth.1 If the child starts receiving blood transfusions early and continues to receive them throughout life, he or she is likely to live longer. Death is usually a result of damage to organs, such as the heart or liver. Lack of oxygen or an iron overload from blood transfusions causes the organ damage.
Alpha thalassemia
Alpha thalassemia occurs when one or more of the four genes that are vital to making hemoglobin are missing or damaged. Alpha thalassemia mainly affects people from southeast Asia, China, and the Philippines, although it occurs in many populations throughout the world. It is sometimes seen in people of African descent.
WebMD Medical Reference from Healthwise
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