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Genetic and Rare Diseases Information Center (GARD)

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Hemoglobin sickle-beta thalassemia


Other Names for this Disease

  • Hb S beta-thalassemia
  • Sickle beta thalassemia
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Overview

What is hemoglobin sickle-beta thalassemia?

What are the signs and symptoms of hemoglobin sickle-beta thalassemia?

What is hemoglobin sickle-beta thalassemia?

Hemoglobin sickle-beta thalassemia, also known as sickle beta thalassemia and sickle cell-beta thalassemia, is considered a variant form of sickle cell anemia.[6] This condition occurs when an individual inherits two altered HBB genes -- one from a parent who is a carrier of beta thalassemia and and the other from a parent who is a carrier of sickle cell anemia. This condition is inherited in an autosomal recessive fashion and is caused by mutations in the hemoglobin, beta (HBB) gene.[1][2]
Last updated: 4/14/2011

What are the signs and symptoms of hemoglobin sickle-beta thalassemia?

Symptoms of hemoglobin sickle-beta thalassemia vary in severity depending on the beta thalassemia mutation inherited, which controls the amount of normal beta globin produced in the body. Beta globin is a component of hemoglobin, which is a protein in the red blood cells that carries oxygen.[1]

When no beta globin is produced by the HBB gene (called sickle cell-beta zero thalassemia), the condition is almost identical to sickle cell disease. These patients may have irreversibly sickled red blood cells, severe anemia, and frequent sickle cell crisis. When some beta globin is produced by the HBB gene (called sickle cell-beta plus thalassemia), the condition is less severe.[2]
Last updated: 4/14/2011

References
  1. Beta Thalassemia. Cooley's Anemia Foundation. http://www.cooleysanemia.org/updates/pdf/Beta_Thalassemia.pdf. Accessed 4/14/2011.
  2. Bender MA & Hobbs W. Sickle Cell Disease. GeneReviews. May 17, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1377/. Accessed 12/20/2012.


Other Names for this Disease
  • Hb S beta-thalassemia
  • Sickle beta thalassemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.