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Thalassemia Major

National Organization for Rare Disorders, Inc.


It is possible that the main title of the report Thalassemia Major 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 Major
  • Cooley's Anemia
  • Erythroblastotic Anemia of Childhood
  • Hemoglobin Lepore Syndromes
  • Hereditary Leptocytosis, Major
  • Mediterranean Anemia
  • Microcythemia
  • Target Cell Anemia
  • Thalassemia, Major

Disorder Subdivisions

  • None

General Discussion

Thalassemia major is a rare blood disorder characterized by a marked increase in F hemoglobin and a decrease in the production of certain oxygen carrying proteins in red blood cells (beta polypeptide chains in the hemoglobin molecule). Thalassemia major is the most severe form of chronic familial anemia that results from the premature destruction of red blood cells (hemolytic). This disease was originally found in people living near the Mediterranean Sea. People with this disorder also have a reduced number of circulating red blood cells (erythrocytes). Thalassemia major is inherited as an autosomal recessive trait.


March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Tel: (888)663-4637



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



Sickle Cell Disease Association of America, Inc.

231 East Baltimore Street

Suite 800

Baltimore, MD 21202


Tel: (410)528-1555

Fax: (410)528-1495

Tel: (800)421-8453



NIH/National Heart, Lung and Blood Institute

P.O. Box 30105

Bethesda, MD 20892-0105

Tel: (301)592-8573

Fax: (301)251-1223



Children's Cancer & Blood Foundation

333 East 38th Street, Suite 830

New York, NY 10016-2745

Tel: (212)297-4336

Fax: (212)297-4340



Cochrane Cystic Fibrosis and Genetic Disorders Group

Institute of Child Health, University of Liverpool

Alder Hey Children's NHS Foundation Trust

Liverpool, L12 2 AP

United Kingdom

Tel: 441512525696



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

TDD: (888)205-3223


Sickle Cell Disease Foundation of California

5777 W. Century Blvd., Suite 1230

Los Angeles, CA 90045

Tel: (310)693-0247

Fax: (310)216-0307

Tel: (877)288-2873



Thalassemia Support Foundation

PO Box 26398

Santa Ana, CA 92799



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 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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site or email

Last Updated:  4/20/2008

Copyright  1986, 1987, 1990, 1992, 1993, 1994, 1995, 1997, 1999, 2000 National Organization for Rare Disorders, Inc.

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