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Diseases

Genetic and Rare Diseases Information Center (GARD)

Thalassemia


Overview

Thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin (the protein in red blood cells that carries oxygen). This causes a shortage of red blood cells and low levels of oxygen in the bloodstream, leading to a variety of health problems.[1] There are two main types of thalassemia, alpha thalassemia and beta thalassemia. Signs and symptoms vary but may include mild to severe anemia, paleness, fatigue, yellow discoloration of skin (jaundice), and bone problems.[2] Beta thalassemia is caused by changes (mutations) in the HBB gene while alpha thalassemia is caused by mutations in the HBA1 and/or HBA2 genes. Both are inherited in an autosomal recessive manner.[3][4] Treatment depends on the type and severity of the condition but may include blood transfusions and/or folic acid supplements.[5][2]
Last updated: 1/1/2015

References

  1. Thalassemia. MedlinePlus. February 2014; http://www.nlm.nih.gov/medlineplus/ency/article/000587.htm.
  2. Explore Thalassemias. National Heart, Lung, and Blood Institute. July 2012; http://www.nhlbi.nih.gov/health/health-topics/topics/thalassemia.
  3. Beta thalassemia. Genetics Home Reference. July 2009; http://ghr.nlm.nih.gov/condition/beta-thalassemia. Accessed 12/5/2010.
  4. Alpha thalassemia. Genetics Home Reference. August 2009; http://ghr.nlm.nih.gov/condition/alpha-thalassemia. Accessed 1/23/2012.
  5. Hassan M Yaish, MD. Pediatric Thalassemia. Medscape Reference. April 2013; http://emedicine.medscape.com/article/958850-overview.
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Basic Information

  • You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States.
  • The Mayo Clinic Web site provides further information on Thalassemia.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The Merck Manual provides information on this condition for patients and caregivers. 
  • 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.

In Depth Information

  • The Merck Manual for health care professionals provides information on Thalassemia.
  • 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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Thalassemia. Click on the link to view a sample search on this topic.
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