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Hemoglobin 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]
References
- Beta Thalassemia. Cooley's Anemia Foundation. http://www.cooleysanemia.org/updates/pdf/Beta_Thalassemia.pdf. Accessed April 14, 2011.
- Bender MA & Hobbs W. Sickle Cell Disease. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1377/. Accessed December 20, 2012.
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General Information
- Genetics Home Reference (GHR) contains information on Hemoglobin sickle-beta thalassemia. Click on the link to go to GHR and review the information.
- 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.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. The summary pages on thalassemia major and thalassemia minor can be viewed by visiting the links above.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Hemoglobin sickle-beta thalassemia. Click on the link to go to OMIM and review these resources.