Thalassemia

What is Thalassemia?
What is alpha thalassemia?
What is beta thalassemia?

What is Thalassemia?
Thalassemias are common inherited diseases of the blood that occur frequently in people of Italian, Greek, Middle Eastern, African, and Southern Asian ancestry.¹ Hemoglobin, a protein in red blood cells, is responsible for transporting oxygen to all parts of the body. Thalassemia, a group of diseases that commonly result in anemia, are characterized by alterations of hemoglobin. There are two main types of thalassemia, alpha and beta thalassemia.¹

What is alpha thalassemia?
When a person does not produce enough of a protein involved in hemoglobin function (called alpha chain), alpha thalassemia may result. Alpha thalassemia is most common in people of African, Indian, Southeast Asian, Southern Chinese, Middle Eastern, and Mediterranean ancestry.² The impact of alpha thalassemia on a patient's health varies, and the severity of the symptoms depends on the amount of alpha protein that is produced. Most people with alpha thalassemia have some degree of anemia, but the most severe form of the disease results in fetal or newborn death.²

What is beta thalassemia?
When a person does not produce enough of the beta chain of the hemoglobin protein, beta thalassemia may result. Beta thalassemia is most common in people of Mediterranean, Italian, Greek, African, Southeast Asian, and Southern Chinese descent.² Beta thalassemia major is the most severe form of the disease.² Without treatment, children develop severe life-threatening anemia, become pale or jaundiced, and have a poor appetite. In addition, the heart, liver, and spleen may become enlarged and bones may become thin and brittle. Because of changes in the facial bones, children who have beta thalassemia major may have unusual looking facial features.^1,2 Treatment requires regular blood transfusions and ongoing medical care.¹ Thalassemia intermedia is a less severe form of the disease because more beta protein is present. However, enlarged organs, bone deformities, and moderate to severe anemia may still be present.² Thalassemia minor (also called thalassemia trait) means that there is enough beta protein for the normal functioning of hemoglobin.² A person who has thalassemia minor carries the genetic trait for beta thalassemia.² Mild anemia may be present, but there are usually no health problems associated with this type of thalassemia.¹
More information about thalassemia is available at www.thalassemia.org.

References

1. March of Dimes Birth Defects Foundation. March of Dimes Public Health Education Information Sheet Thalassemia. White Plains, NY: March of Dimes; 2002.
2. Cooley's Anemia Foundation. What is Thalassemia? Flushing, NY: 2001. www.thalassemia.org.

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