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Genetic and Rare Diseases Information Center (GARD)

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Other Names for this Disease
  • A-Thalassemia
  • Alpha thalassemia
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Alpha-thalassemia is a blood disorder that reduces the body's production of hemoglobin. Affected individuals have anemia, which can cause pale skin, weakness, fatigue, and more serious complications. Two types of alpha-thalassemia can cause health problems: the more severe type is known as Hb Bart syndrome; the milder form is called HbH disease. Hb Bart syndrome may be characterized by hydrops fetalis; severe anemia; hepatosplenomegaly; heart defects; and abnormalities of the urinary system or genitalia. Most babies with this condition are stillborn or die soon after birth. HbH disease may cause mild to moderate anemia; hepatosplenomegaly; jaundice; or bone changes. Alpha-thalassemia typically results from deletions involving the HBA1 and HBA2 genes. The inheritance is complex, and can be read about here.[1] No treatment is effective for Hb Bart syndrome; for HbH disease, occasional red blood cell transfusions may be needed.[2]
Last updated: 1/23/2012


  1. Alpha thalassemia. Genetics Home Reference. August 2009; Accessed 1/23/2012.
  2. Alpha-Thalassemia. GeneReviews. July 15, 2008; Accessed 1/23/2012.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Alpha-Thalassemia. This website is maintained by the National Library of Medicine.
  • 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 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 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.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Alpha-Thalassemia. Click on the link to view a sample search on this topic.