Sickle beta thalassemia
Other Names for this Disease
- Hb S beta-thalassemia
- Hemoglobin sickle-beta thalassemia
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What is sickle beta thalassemia?
Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body. It is a type of sickle cell disease. In affected people, changes (mutations) in the HBB gene result in an abnormal hemoglobin that causes red blood cells to form a "sickle" or crescent shape. These sickle-shaped red blood cells often breakdown prematurely and can get stuck in blood vessels leading to the signs and symptoms of the condition. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and can vary in severity. Sickle beta thalassemia is inherited in an autosomal recessive manner. Treatment is supportive and depends on the signs and symptoms present in each person.
Last updated: 12/21/2014
- MA Bender, MD, PhD and Gabrielle Douthitt Seibel, MN, MPH, ARNP. Sickle Cell Disease. GeneReviews. October 2014; http://www.ncbi.nlm.nih.gov/books/NBK1377/.
- Sickle Cell Disease. Genetics Home Reference. August 2012; http://www.ghr.nlm.nih.gov/condition/sickle-cell-disease.
- Sickle Cell Disease. NORD. April 2008; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/25/viewAbstract.