HaemochromatosisBMJ 2008; 336 doi: https://doi.org/10.1136/bmj.39357.698889.94 (Published 28 February 2008) Cite this as: BMJ 2008;336:506
- William E Cayley Jr, associate professor
- 1UW Health Augusta Family Medicine Clinic, Eau Claire Family Medicine Residency, University of Wisconsin Department of Family Medicine, 617 West Clairemont Avenue, Eau Claire, WI 54701, USA
- Accepted 13 April 2007
A 45 year old man presents with gradually increasing fatigue and joint pains. Physical examination is unremarkable, and results of basic laboratory tests are normal except for high concentrations of hepatic transaminase. Should he be evaluated for haemochromatosis?
What you should cover
What is haemochromatosis?
Hereditary haemochromatosis (HH) is an iron overload disorder that is most commonly due to mutations in the HFE gene. Healthy adults typically have 35 mg/kg (women) to 45 mg/kg (men) total body iron. Normally the 1-2 mg of iron lost daily through sweating and sloughing of epithelium is balanced by duodenal iron absorption. Mutation of the HFE gene (genetic HH) can increase duodenal absorption of iron, leading to iron overload (biochemical HH) and organ damage (clinical HH).
Who gets it?
The predominant HFE mutation is C282Y. About 0.4% of people of white, northern European ancestry are homozygous for C282Y, and 75% of these people will develop iron overload. A smaller percentage …