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Sickle cell anemia
Other Names for this Disease
- HbS disease
- Hemoglobin S Disease
- Sickle cell disease
- Sickling disorder due to hemoglobin S
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Overview
Sickle cell anemia is a disease in which the body produces abnormally shaped red blood cells that have a crescent or sickle shape. These cells do not last as long as normal, round, red blood cells, which leads to anemia (low number of red blood cells). The sickle cells also get stuck in blood vessels, blocking blood flow.[1] Signs and symptoms of sickle cell disease usually begin in early childhood and may include anemia, repeated infections, and periodic episodes of pain (called crises). This condition is caused by mutations in the HBB gene and is inherited in an autosomal recessive pattern.[2] Treatment typically focuses on controlling symptoms and may include pain medicines during crises; hydroxyurea to reduce the number of pain episodes; antibiotics and vaccines to prevent bacterial infections; and blood transfusions.[1]
References
- Sickle cell anemia. MedlinePlus. http://www.nlm.nih.gov/medlineplus/ency/article/000527.htm. Accessed November 10, 2011.
- Sickle Cell Disease. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/sickle-cell-disease. Accessed November 9, 2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center4 question(s) from the public on Sickle cell anemia have been answered. See questions and answers. You can also submit a new question.
On this page
General Information
- Genetics Home Reference (GHR) contains information on Sickle cell anemia. Click on the link to go to GHR and review the information.
- MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
- The National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information. Click on the link to view information on this topic.
- The National Heart, Lung, and Blood Institute (NHLBI) provides leadership for a national program in diseases of the heart, blood vessels, lung, and blood; blood resources; and sleep disorders. Since October 1997, the NHLBI has also had administrative responsibility for the NIH Woman's Health Initiative. Click on the link to view information on this topic.
- 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. Click on the link to view information on this topic.
- 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Sickle cell anemia. Click on the link to view a sample search on this topic.
- The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents. To view this fact sheet, click on the link.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Sickle cell anemia. Click on the link to go to OMIM and review these resources.
Selected Full-Text Journal Articles
- Frenette PS, Atweh GF. Sickle cell disease: old discoveries, new concepts, and future promise. Journal of Clinical Investigation. 2007 Apr;117(4):850-8.