HFE-associated hereditary hemochromatosis

Skoien, Richard and Powell, Lawrie W. (2012). HFE-associated hereditary hemochromatosis. In Gregory J. Anderson and Gordon D. McLaren (Ed.), Iron physiology and pathophysiology in humans (pp. 385-398) New York, NY, United States: Humana Press. doi:10.1007/978-1-60327-485-2_19

Author Skoien, Richard
Powell, Lawrie W.
Title of chapter HFE-associated hereditary hemochromatosis
Title of book Iron physiology and pathophysiology in humans
Place of Publication New York, NY, United States
Publisher Humana Press
Publication Year 2012
Sub-type Research book chapter (original research)
DOI 10.1007/978-1-60327-485-2_19
Series Nutrition and Health
ISBN 9781603274845
Editor Gregory J. Anderson
Gordon D. McLaren
Chapter number 19
Start page 385
End page 398
Total pages 14
Total chapters 31
Collection year 2013
Language eng
Subjects 11 Medical and Health Sciences
Formatted Abstract/Summary
The clinical phenotype of hemochromatosis – cirrhosis, diabetes, and pigmentation of the skin – has been recognized since the late nineteenth century [1]. Over the next 100 years, the molecular basis of inappropriate uptake and deposition of excessive quantities of iron in tissues became clearer. This began with the recognition of an autosomal recessive disorder linked to the short arm of chromosome 6 [2–4]. In 1996, discovery of a point mutation of the HFE gene [5] became an important portal to a better understanding of the genetic basis and expression of hereditary hemochromatosis.
Keyword Arthropathy
Iron loading
Serum ferritin
Transferrin saturation
Q-Index Code BX
Q-Index Status Confirmed Code
Institutional Status UQ
Additional Notes Part 4

Document type: Book Chapter
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Created: Thu, 30 Sep 2010, 13:49:15 EST by Laura McTaggart on behalf of Medicine - Princess Alexandra Hospital