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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Thalassemia major
  • Beta thalassemia major
  • Cooley's anemia
  • Thalassemia intermedia
  • Beta thalassemia intermedia
  • Thalassemia minor
  • Beta thalassemia minor
  • Erythroblastic anemia
  • Mediterranean anemia
Home > Rare Diseases and Related Terms > Beta-thalassemia



Beta-thalassemia
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Beta-thalassemia is a blood disorder that reduces the production of hemoglobin. Without sufficient hemoglobin, red blood cells do not develop normally, causing a shortage of mature red blood cells, leading to anemia and other health problems. Severe beta-thalassemia is called “thalassemia major” or “Cooley’s anemia.” Thalassemia intermedia is the less severe form. Mutations in the HBB gene cause beta-thalassemia. This condition is usually inherited in an autosomal recessive fashion, which means people with beta thalassemia have mutations in both of their HBB genes. People who have only one HBB mutation may have no symptoms or develop mild symptoms; these individuals are said to have thalassemia minor.[1]


References
  1. Beta thalassemia. Genetic Home Reference. July 2009 Available at: http://ghr.nlm.nih.gov/condition/beta-thalassemia. Accessed July 7, 2011.
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More Detailed Information (Found 10 resources)
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  • General

    • You can obtain comprehensive 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. Click on the link to read information on this condition.
    • Genetics Home Reference (GHR) contains information on Beta-thalassemia. Click on the link to go to GHR and review the information.
    • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
    • 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 Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Beta-thalassemia. Click on the link to go to OMIM and review these resources.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Beta-thalassemia. Click on the link to view a sample search on this topic.
  • Management Guidelines

    • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
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Services (Found 3 resources)
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    • Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.

  • Testing

    • GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
  • Parent Resources

    • The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.
 
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Clinical Trials & Research (Found 3 resources)
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    • ClinicalTrials.gov lists trials that are studying or have studied Beta-thalassemia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
    • NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
  • Patient Registry

    • ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Advancing Translational Sciences.

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