Adele L. Franks, MD; Wylie Burke, MD, PhD
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Franks AL, Burke W. HFE Genotype in Patients with Hemochromatosis and Other Liver Diseases. Ann Intern Med. 2000;132:246. doi: 10.7326/0003-4819-132-3-200002010-00020
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Published: Ann Intern Med. 2000;132(3):246.
Because Bacon and colleagues (1) explored the utility of genetic testing, it is by definition circular to use the genetic test to discredit previously accepted diagnostic criteria for hemochromatosis in the absence of an independent gold standard. They found that some patients with liver disease who did not meet previously established criteria for hemochromatosis were homozygous for C282Y. The authors assumed that genotype should take precedence over the prior criteria, even though the predictive value of the various HFE genotypes has not yet been established. Indeed, given that C282Y homozygosity has been identified in patients with limited iron overload and no clinical manifestations (2), C282Y homozygosity in itself cannot be considered to be diagnostic. Furthermore, iron overload from hemochromatosis is known to exist in the absence of identifiable HFE mutations (3).
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