Blood Home > Thalassemia

Thalassemia is an inherited condition that affects a person's ability to produce hemoglobin in red blood cells. When it occurs, the genes that code for hemoglobin are missing or different from normal genes. Treatment options depend on the type and severity of the disease, but can include things such as blood transfusions and bone marrow transplants.

What Is Thalassemia?

Thalassemia is a group of inherited blood diseases that affect a person's ability to produce hemoglobin in red blood cells. A person with thalassemia does not have enough hemoglobin or red blood cells to carry oxygen throughout the body, which can cause mild to severe anemia.
 
Approximately 100,000 babies worldwide are born with severe forms of thalassemia each year. The condition occurs more frequently in people of Italian, Greek, Middle Eastern, Southern Asian, and African ancestry.
 

What Causes It?

The condition occurs when the genes that code for hemoglobin are missing or variant (different from normal genes). Severe forms of the disorder are usually diagnosed in early childhood and are considered lifelong conditions.
 
(Click Causes of Thalassemia for more information.)
 

Genetics and Types of Thalassemia

The two main types of thalassemia, alpha and beta, are named for the two protein chains that make up normal hemoglobin. Both types are passed from parents to their children.
 
There are mild and severe forms of the disorder as well. Severe thalassemia is often called Cooley's anemia, which is the most common severe form seen in the United States.
 
(Click Cooley's Anemia for more information about this severe form of anemia.)
 
Alpha thalassemia occurs when one or more of the four genes needed for making the alpha-globin chain of hemoglobin are variant or missing. Moderate to severe anemia will result when more than two genes are affected.
 
Beta thalassemia occurs when one or both of the two genes needed for making the beta-globin chain of hemoglobin are variant. If both genes are affected, anemia can range from moderate to severe.
 
(Click Beta Thalassemia for an in-depth look at this type of anemia. Click How Is Thalassemia Inherited? for more information on genetics.)
 
Written by/reviewed by:
Last reviewed by: Arthur Schoenstadt, MD
Last updated/reviewed:
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