HEREDITARY hemochromatosis (HH) has long been described as a disorder of iron absorption that results in tissue iron deposition and cirrhosis of the liver.1 It has been assumed that HH results from a genetic trait that, given enough time, will inevitably express itself as increased absorption, transport, and storage of iron ultimately leading to organ damage. Based on this assumption, the approach to diagnosing HH has evolved away from analyzing liver biopsy specimens for signs of iron overload and liver damage to testing for specific genes or earlier phenotypic expression of traits that define increased risk for iron overload and disease. Thus, in the last 20 years, research has focused on determining the specific genetic loci and identifying the best laboratory test(s) to detect the disease early. Based on large studies of blood donors and outpatients, the prevalence of HH has been estimated at 3 to 5 per 1000 people.1 In 1996, 2 specific gene mutations (known as HFE) on chromosome 6 were identified and found to be associated with HH.2
Sharon M. McDonnell, MD, MPH
R. Gibson Parrish, MD
Comparison of transferrin saturation (TS) and HFEgenetic screening strategies used to detect clinical hemochromatosis in various studies conducted from 1996 through 2001. The number above each box represents the number of persons who tested positive test in the current step and in all previous steps. The number in parentheses represents the percentage of persons from the previous step who tested positive in the current step. HH indicates hereditary hemochromatosis.
Thank you for submitting a comment on this article. It will be reviewed by JAMA Internal Medicine editors. You will be notified when your comment has been published. Comments should not exceed 500 words of text and 10 references.
Do not submit personal medical questions or information that could identify a specific patient, questions about a particular case, or general inquiries to an author. Only content that has not been published, posted, or submitted elsewhere should be submitted. By submitting this Comment, you and any coauthors transfer copyright to the journal if your Comment is posted.
* = Required Field
Disclosure of Any Conflicts of Interest*
Indicate all relevant conflicts of interest of each author below, including all relevant financial interests, activities, and relationships within the past 3 years including, but not limited to, employment, affiliation, grants or funding, consultancies, honoraria or payment, speakers’ bureaus, stock ownership or options, expert testimony, royalties, donation of medical equipment, or patents planned, pending, or issued. If all authors have none, check "No potential conflicts or relevant financial interests" in the box below. Please also indicate any funding received in support of this work. The information will be posted with your response.
Some tools below are only available to our subscribers or users with an online account.
Download citation file:
Web of Science® Times Cited: 5
Customize your page view by dragging & repositioning the boxes below.
More Listings atJAMACareerCenter.com >
Enter your username and email address. We'll send you a link to reset your password.
Enter your username and email address. We'll send instructions on how to reset your password to the email address we have on record.
Athens and Shibboleth are access management services that provide single sign-on to protected resources. They replace the multiple user names and passwords necessary to access subscription-based content with a single user name and password that can be entered once per session. It operates independently of a user's location or IP address. If your institution uses Athens or Shibboleth authentication, please contact your site administrator to receive your user name and password.