Other Names for this Disease
- Alpha thalassemia
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hemoglobin. Affected people 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. No treatment is effective for Hb Bart syndrome. For HbH disease, occasional red blood cell transfusions may be needed.Alpha-thalassemia is a blood disorder that reduces the body's production of
Last updated: 7/29/2015
- Alpha thalassemia. Genetics Home Reference. August 2009; http://ghr.nlm.nih.gov/condition/alpha-thalassemia. Accessed 1/23/2012.
- Alpha-Thalassemia. GeneReviews. July 15, 2008; http://www.ncbi.nlm.nih.gov/books/NBK1435/. Accessed 1/23/2012.
- 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) has information on this topic. NHLBI is part of the National Institutes of Health and supports research, training, and education for the prevention and treatment of heart, lung, and blood diseases.
- The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
- 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.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.
- 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.