What is Thalassemia?

by Aimee Amodio | More from this Blogger

18 Oct 2009 06:27 PM

Thalassemia is a blood disorder that causes the body to produce less hemoglobin -- the protein that helps your red blood cells carry oxygen through the body. If your hemoglobin levels are low, you may develop anemia.

What causes thalassemia? It is an inherited disorder -- one that comes from a defective gene in both parents. There are two genes that produce beta-globin and four genes that produce hemoglobin. A malfunction in these genes can lead to thalassemia.

There are two main types of thalassemia: alpha thalassemia and beta thalassemia. Beta is the most common form of the disease, and is divided into types based on the severity of the condition. In this form of the disease, one or both of the genes that produce beta-globin are defective. Alpha thalassemia occurs when one or more of the genes that produce hemoglobin are missing or damaged.

In mild cases, thalassemia may show few or no symptoms. In moderate and severe cases of thalassemia, symptoms can include:

• Weakness and fatigue
• Paleness of the skin
• Jaundice
• Darkness of the urine
• Rapid heartbeat
• Shortness of breath, especially during exercise
• Decreased appetite and weight loss

Children with moderate to severe thalassemia may show poor growth.

A variety of blood tests can confirm the presence of thalassemia, including a complete blood count (CBC) and iron level test (to determine possible causes of anemia). There are also blood tests to measure the amounts and types of hemoglobin present in the blood. Your doctor may also want to test other family members (especially parents and siblings) to determine whether or not they have thalassemia as well.

Treatment depends largely on the severity of the condition. Mild cases of thalassemia often do not need treatment. Moderate cases can often be treated with vitamin supplements and/or blood transfusions. Vitamin supplements (specifically folic acid) and blood transfusions are also used to treat severe thalassemia. Some severe cases may be treated with a bone marrow transplant or removal of the spleen.

Other blood disorders covered in the Families.com Health Blog include:

• Sickle Cell Disease
• Bleeding Disorders
• Anemia (also covered in the Prengnacy Blog)

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