Non-HFE haemochromatosis

Wallace, Daniel F. and Subramaniam, V. Nathan (2007) Non-HFE haemochromatosis. World Journal of Gastroenterology, 13 35: 4690-4698.

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Author Wallace, Daniel F.
Subramaniam, V. Nathan
Title Non-HFE haemochromatosis
Journal name World Journal of Gastroenterology   Check publisher's open access policy
ISSN 1007-9327
2219-2840
Publication date 2007-09
Sub-type Article (original research)
Open Access Status File (Publisher version)
Volume 13
Issue 35
Start page 4690
End page 4698
Total pages 9
Place of publication Beijing, China
Publisher Beijing Baishideng BioMed Scientific
Language eng
Abstract Non-HFE hereditary haemochromatosis (HH) refers to a genetically heterogeneous group of iron overload disorders that are unlinked to mutations in the HFE gene. The four main types of non-HFE HH are caused by mutations in the hemojuvelin, hepcidin,, transferrin receptor 2 and ferroportin genes. Juvenile haemochromatosis is an autosomal recessive disorder and can be caused by mutations in either hemojuvelin or hepcidin. An adult onset form of HH similar to HFE-HH is caused by homozygosity for mutations in transferrin receptor 2. The autosomal dominant iron overload disorder ferroportin disease is caused by mutations in the iron exporter ferroportin. The clinical characteristics and molecular basis of the various types of non-HFE haemochromatosis are reviewed. The study of these disorders and the molecules involved has been invaluable in improving our understanding of the mechanisms involved in the regulation of iron metabolism.
Keyword haemochromatosis
iron overload
non-HFE
juvenile haernochromatosis
hemojuvelin
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Medicine Publications
 
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Created: Thu, 25 Nov 2010, 10:32:28 EST