BMJ  2008;336:506 (1 March), doi:10.1136/bmj.39357.698889.94

Practice

10-Minute Consultation

Haemochromatosis

¹ UW 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

The first 150 words of the full text of this article appear below.

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 will develop liver disease . . . [Full text of this article]

What are the signs, symptoms, and sequelae?
How do you diagnose hereditary haemochromatosis?
Useful reading
Clinical reviews
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Relevant Article

Controversy in primary care: Should asymptomatic haemochromatosis be treated? •    Treatment can be onerous for patient and doctor • Commentary: False certainty of clinical guidance • Commentary: Early treatment is essential

Clare J Seamark, Margaret Hutchinson, Iona Heath, and M F McMullin
BMJ 2000 320: 1314-1317. [Full Text] [PDF]

Rapid Responses:

Read all Rapid Responses

Serum ferritin, not symptoms, is the trigger for haemochromatosis testing

Jecko Thachil
bmj.com, 1 Mar 2008 [Full text]