This MedLibrary.org supplementary page on Atransferrinemia is provided directly from the open source Wikipedia as a service to our readers. Please see the note below on authorship of this content, as well as the Wikipedia usage guidelines. To search for other content from our encyclopedia supplement, please use the form below:
Related Sponsors
 |
This article needs additional citations for verification. Please help improve this article by adding reliable references. Unsourced material may be challenged and removed. (January 2008) |
| Atransferrinemia Classification and external resources |
|
 |
|
|---|---|
| 2-year old Violet, a young European girl with atransferrinemia. | |
| ICD-9 | 273.8 |
| OMIM | 209300 |
| DiseasesDB | 29538 |
Atransferrinemia is an autosomal recessive metabolic disorder in which there is absence of transferrin, a plasma protein that transports iron through the blood.
Atransferrinemia is characterized by anemia and hemosiderosis in the heart and liver. The iron damage to the heart can lead to heart failure. The anemia is typically microcytic and hypochromic (the red blood cells are abnormally small and pale). Atransferrinemia is extremely rare, with eight cases documented worldwide.[1]
Contents |
Symptoms
Severe microcytic hypochromic anemia, growth retardation and recurrent infections are the first clinical signs of the disease. Iron overload occurs mainly in the liver, heart, pancreas, thyroid, kidney and bone joints, leading to mild to severe symptoms of liver and heart failure, arthropathy and hypothyroidism. Death may occur due to heart failure or pneumonia.
Genetics
A case study was done in 1961 on a 7-year-old girl who passed away from heart failure with atransferrinemia. The half-normal levels of transferrin in her parents' bloodstream supported the notion that this disorder is transferred in an autosomal recessive pattern.[1] Atransferrinemia was reported in only eight patients in six families as of the year 2000. A lack of scientific data and public outreach, however, have suggested that there is a higher number of current cases. Researchers used the first known case reported in the United States[2] and identified mutations in the TF gene as a probable cause of the disorder.
Treatment
Treatment with infusions of plasma or purified apotransferrin may stabilise or correct the anemia and growth defects.
References
- ^ Heilmeyer L, Keller W, Vivell O et al (1961). "Congenital atransferrinemia in a 7-year-old girl." (in German). Dtsch. Med. Wochenschr. 86: 1745–51. PMID 13906010.
- ^ Beutler E, Gelbart T, Lee P, Trevino R, Fernandez MA, Fairbanks VF (2000). "Molecular characterization of a case of atransferrinemia". Blood 96 (13): 4071–4. PMID 11110675.
External links
|
||||||||||||||||||||
Wikipedia content modification information:
- This page was last modified on 7 June 2008, at 14:31.
Wikipedia Authorship and Review
Wikipedia content provided here is not reviewed directly by MedLibrary.org. Wikipedia content is authored by an open community of volunteers and is not produced by or in any way affiliated with MedLibrary.org.
Wikipedia Usage Guidelines
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article on "Atransferrinemia".
The URL for this specific entry is:
All Wikipedia text is available under the terms of the GNU Free Documentation License. (See Copyrights for details). Wikipedia® is a registered trademark of the Wikimedia Foundation, Inc.