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Controversies in Internal Medicine |

Hereditary Hemochromatosis and Its Elusive Natural History

Sharon M. McDonnell, MD, MPH; R. Gibson Parrish, MD
Arch Intern Med. 2003;163(20):2421-2423. doi:10.1001/archinte.163.20.2421.
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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

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Sharon M. McDonnell, MD, MPH

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R. Gibson Parrish, MD

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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.

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