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Copyright 2010
NORD is very grateful to Alex Knisely, MD, Institute of Liver Studies/Histopathology, King's College Hospital, London, UK, for assistance in the preparation of this report.
Synonyms of Atransferrinemia
- congenital atransferrinemia
- hereditary atransferrinemia
- hypotransferrinemia
Disorder Subdivisions
General Discussion
Atransferrinemia is an extremely rare genetic disorder characterized by low levels of healthy, functional red cells in the blood (hypochromic, microcytic anemia) and by the accumulation of excess iron in the body (hemosiderosis). Symptoms may vary based upon the severity of anemia and upon the extent of iron accumulation in the body and the specific organs affected. Common symptoms include recurrent infections and growth delays. Atransferrinemia is principally caused by mutations of the transferrin (TF) gene and is inherited as an autosomal recessive trait. Atransferrinemia is classified as an iron overload disorder. A milder form of atransferrinemia, known as hypotransferrinemia, is caused by mutations in the same gene.
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Organizations related to Atransferrinemia
- Iron Disorders Institute
PO Box 675
Taylors SC 29687
Phone #: 864-292-1175
800 #: 888-565-4766
e-mail: info@irondisorders.org
Home page: http://www.irondisorders.org
- Iron Overload Diseases Association, Inc.
433 Westwind Drive
PO Box 15857
West Palm Beach Fl 33416-5857
Phone #: 561-586-8246
800 #: 866-768-8629
e-mail: iod@ironoverload.org
Home page: http://ironoverload.org
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda MD 20892-3570
Phone #: 301-654-3810
800 #: 800-891-5389
e-mail: nddic@info.niddk.nih.gov
Home page: http://www.niddk.nih.gov
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