Gordon D. McLaren, MD
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McLaren G.; HFE Genotype in Patients with Hemochromatosis and Other Liver Diseases. Ann Intern Med. 2000;132:245. doi: 10.7326/0003-4819-132-3-200002010-00017
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Published: Ann Intern Med. 2000;132(3):245.
TO THE EDITOR:
Bacon and colleagues' report (1) indicates that determination of HFE genotype in patients with liver disease and possible iron overload may lead to identification of unsuspected C282Y homozygotes. In an editorial, Franks and Burke (2) note that some of the homozygotes did not have an elevated hepatic iron index; they suggest that the authors are guilty of circular reasoning because the authors conclude that absence of this criterion does not exclude the C282Y homozygous state. This is exactly what the data show, however, and the relevant question is whether this finding reflects a lack of full disease expression in these C282Y homozygotes.
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