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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

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

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.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Hemoglobin sickle-beta thalassemia. This website is maintained by the National Library of Medicine.
  • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
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.