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Diagnosis and Management |

Diagnosis of Hemochromatosis

Lawrie W. Powell, MD; D. Keith George, MD; Sharon M. McDonnell, MD; and Kris V. Kowdley, MD
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From the University of Queensland, Brisbane, Australia; the Centers for Disease Control and Prevention, Atlanta, Georgia; and the University of Washington, Seattle, Washington. Note: This article is one of a series of articles comprising an Annals of Internal Medicine supplement entitled “Iron Overload, Public Health, and Genetics.” To view a complete list of the articles included in this supplement, please view its Table of Contents.

Copyright ©2004 by the American College of Physicians

Ann Intern Med. 1998;129(11_Part_2):925-931. doi:10.7326/0003-4819-129-11_Part_2-199812011-00002
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If untreated, hemochromatosis can cause serious illness and early death, but the disease is still substantially under-diagnosed. The cornerstone of screening and case detection is the measurement of serum transferrin saturation and the serum ferritin level. Once the diagnosis is suspected, physicians must use serum ferritin levels and hepatic iron stores on liver biopsy specimens to assess patients for the presence of iron overload. Liver biopsy is also used to establish the presence or absence of cirrhosis, which can affect prognosis and management. A DNA-based test for the HFE gene is commercially available, but its place in the diagnosis of hemochromatosis is still being evaluated. Currently, the most useful role for this test is in the detection of hemochromatosis in the family members of patients with a proven case of the disease. It is crucial to diagnose hemochromatosis before hepatic cirrhosis develops because phlebotomy therapy can avert serious chronic disease and can even lead to normal life expectancy.


Grahic Jump Location
Figure 1.
Algorithm for screening for and diagnosing hemochromatosis.

*At the time of the second transferrin saturation test, tests for serum ferritin level and liver function, physical examination, and complete blood count should also be done. †A genetic test to show whether a patient is a homozygote or a mixed heterozygote for HFE gene mutations may be useful for risk assessment, but the positive and negative predictive values of this test have not been established. If a patient is heterozygous, the physician may want to evaluate for such conditions as hepatitis C virus infection, nonalcoholic steatohepatitis, and porphyria cutanea tarda. Homozygotes with normal iron measures might have follow-up with annual serum ferritin tests. HC = hemochromatosis; HIC = hepatic iron concentration; HII = hepatic iron index; LFT = liver function test; SF = serum ferritin; TS = transferrin saturation.

Grahic Jump Location




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