National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Beta Thalassemia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Beta thalassemia is an inherited blood disorder characterized by reduced levels of functional hemoglobin. Hemoglobin is found is red blood cells; it is the red, iron-rich, oxygen-carrying pigment of the blood. A main function of red blood cells is to deliver oxygen throughout the body. There are three main forms of beta thalassemia – minor, intermedia and major, which indicate the severity of the disease. Individuals with beta thalassemia minor usually do not have any symptoms (asymptomatic) and individuals often are unaware that they have the condition. Some individuals do experience a very mild anemia. Individuals with beta thalassemia major have a severe expression of the disorder; they often require regular blood transfusions and lifelong, ongoing medical care. The symptoms of beta thalassemia intermedia are widely variable and severity falls in the broad range between the two extremes of the major and minor forms. The characteristic finding of beta thalassemia is anemia, which is caused because red blood cells are abnormally small (microcytic), are not produced at the normal amounts, and do not contain enough functional hemoglobin. Consequently, affected individuals do not receive enough oxygen-rich blood (microcytic anemia) throughout the body. Affected individuals may experience classic signs of anemia including fatigue, weakness, shortness of breath, dizziness or headaches. Severe anemia can cause serious, even life-threatening complications if left untreated. Affected individuals are usually treated by regular blood transfusions. Individuals with beta thalassemia major and intermedia may develop excess levels of iron in the body (iron overload), which primarily results from repeated blood transfusions. Iron overload can potentially cause a variety of symptoms affecting multiple systems of the body, but can be treated by specific medications. Beta thalassemia is caused by mutations in the hemoglobin beta (HBB) gene. Individuals with beta thalassemia minor have a mutation in one HBB gene, while individuals with the intermediate and major forms have mutations in both HBB genes.
Thalassemia is a general term for a group of disorders in which there is reduced levels of hemoglobin, decreased red blood cell production and anemia. There are two main forms – alpha thalassemia and beta thalassemia, each with various subtypes. Beta thalassemia minor, also known as beta thalassemia trait, is a common condition. Beta thalassemia major was first described in the medical literature in 1925 by an American physician named Thomas Cooley. Beta thalassemia major is also known as Cooley's anemia. Today, the classic clinical picture of beta thalassemia major is primarily seen in countries with insufficient resources to provide affected individuals with proper treatment (e.g. regular transfusions and iron-lowering medications).
Children's Cancer & Blood Foundation
- 333 East 38th Street, Suite 830
- New York, NY 10016-2745
- Tel: (212)297-4336
- Fax: (212)297-4340
- Email: email@example.com
- Website: http://www.childrenscbf.org/
Cooley's Anemia Foundation, Inc.
- 330 7th Ave
- Suite 900
- New York, NY 10001
- Tel: (212)279-8090
- Fax: (212)279-5999
- Tel: (800)522-7222
- Email: firstname.lastname@example.org
- Website: http://www.cooleysanemia.org
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
March of Dimes Birth Defects Foundation
- 1275 Mamaroneck Avenue
- White Plains, NY 10605
- Tel: (914)997-4488
- Fax: (914)997-4763
- Website: http://www.marchofdimes.com
NIH/National Heart, Lung and Blood Institute
- P.O. Box 30105
- Bethesda, MD 20892-0105
- Tel: (301)592-8573
- Fax: (301)251-1223
- Email: email@example.com
- Website: http://www.nhlbi.nih.gov/
Thalassemia Support Foundation
- PO Box 26398
- Santa Ana, CA 92799
- Email: firstname.lastname@example.org
- Website: http://www.helpthals.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
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Last Updated: 12/31/1969
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