Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Alpha-Thalassemia


Other Names for this Disease

  • A-Thalassemia
  • Alpha 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.

Overview

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

References

  1. Alpha thalassemia. Genetics Home Reference. August 2009; http://ghr.nlm.nih.gov/condition/alpha-thalassemia. Accessed 1/23/2012.
  2. Alpha-Thalassemia. GeneReviews. July 15, 2008; http://www.ncbi.nlm.nih.gov/books/NBK1435/. Accessed 1/23/2012.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Alpha-Thalassemia have been answered. See questions and answers. You can also submit a new question.

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 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 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.
Other Names for this Disease
  • A-Thalassemia
  • Alpha 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.