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May 19, 2013
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Hemoglobin Levels (cont.)

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What is thalassemia?

Thalassemia is a genetic disease that is caused by one or more genes that control the production of either the alpha or beta protein that make up the structure of hemoglobin. A person has alpha or beta thalassemia; these two types have many subtypes, but are usually grouped into one of two major subtypes termed thalassemia major and thalassemia minor.

Individuals with alpha or beta thalassemia major inherit defective genes from both parents, while those with thalassemia minor inherit defective genes from only one parent.

Most people with thalassemia minor may have small red blood cells, but otherwise have almost no symptoms. Unfortunately, individuals with thalassemia major usually develop severe anemia during the first year of life and can develop facial abnormalities, growth failure, fatigue, and shortness of breath. Treatment for thalassemia major is frequent blood transfusions and in some individuals, bone marrow transplants.

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