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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.
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.
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.)
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.)
Some people are "silent carriers" of thalassemia and do not have any symptoms. Other carriers (also known as thalassemia trait) have mild anemia, but they usually do not need treatment. However, carriers can pass the genes on to their children.
The symptoms will depend on the type and severity of the disease. Symptoms generally occur when oxygen does not get to various parts of the body due to low hemoglobin and a shortage of red blood cells in the blood (anemia).
(Click Symptoms of Thalassemia for more information. You can also click Symptoms of Beta Thalassemia for information about specific beta thalassemia symptoms.)
Doctors typically make a diagnosis after conducting blood tests, including a complete blood count (CBC) and special hemoglobin studies.
A CBC provides information about the amount of hemoglobin in the blood and the different kinds of blood cells in the blood. People with thalassemia have less hemoglobin than normal and fewer red blood cells than normal in their blood. Carriers of the trait may have slightly fewer red blood cells than normal in their blood.
Hemoglobin studies measure the types of hemoglobin in a blood sample.
(Click Thalassemia Diagnosis for more information.)
Treatment will depend on the type and severity of the disease. Examples include:
- People who are carriers of the thalassemia trait usually have no symptoms and need no treatment.
- People with moderate forms of thalassemia may need occasional blood transfusions.
- People with severe thalassemia have a serious and life-threatening illness. They are treated regularly with blood transfusions, iron chelation therapy, and bone marrow transplants. Without treatment, children with severe thalassemia will not live beyond early childhood.
Bone marrow or stem cell transplants have cured thalassemia in some children. However, this treatment is not available for most people with the condition.
Researchers are studying new treatments for thalassemia, including ways to cure the disease through stem cell and gene therapies.
(Click Treatments for Thalassemia for more information about treatment options.)
Other names for alpha thalassemia include:
- Alpha thalassemia "silent carrier"
- Mild alpha thalassemia (also called alpha thalassemia minor or alpha thalassemia trait)
- Hemoglobin H disease
- Hydrops fetalis or alpha thalassemia major.
Other names for beta thalassemia include:
- Beta thalassemia minor (also called thalassemia minor or thalassemia trait)
- Beta thalassemia intermedia (also called thalassemia intermedia or mild Cooley's anemia)
- Beta thalassemia major (also called thalassemia major or Cooley's anemia)
- Mediterranean anemia.
The term "Cooley's anemia" is sometimes used to refer to any type of thalassemia that requires treatment with regular blood transfusions.
Key information to keep in mind regarding thalassemia includes:
- Thalassemia is a group of inherited blood disorders that can cause mild to severe anemia.
- The condition involves problems with the production of hemoglobin in red blood cells. As a result, a person with thalassemia does not have enough hemoglobin or red blood cells to carry oxygen throughout the body.
- There are two main types: alpha and beta thalassemia. The alpha type occurs when there is a problem with the alpha-globin chain that is part of hemoglobin. The beta type occurs when there is a problem with the beta-globin chain.
- There are mild, moderate, and severe forms of thalassemia. The most common severe form seen in the United States is beta thalassemia major (Cooley's anemia).
- Thalassemia mainly affects people from Mediterranean countries and Asia.
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Written by/reviewed by: Arthur Schoenstadt, MD
Last reviewed by: Arthur Schoenstadt, MD
