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Hemochromatosis: Genetic Testing and Clinical Practice

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1 Hemochromatosis: Genetic Testing and Clinical Practice
Heinz Zoller, Timothy M. Cox  Clinical Gastroenterology and Hepatology  Volume 3, Issue 10, Pages (October 2005) DOI: /S (05) Copyright © 2005 American Gastroenterological Association Terms and Conditions

2 Figure 1 T2-weighted MRI images of healthy control (A), a patient with hemochromatosis type 1 (B), and a patient with hemochromatosis type 4 (ferroportin syndrome; C). In both hemochromatosis patients, the liver shows a decreased signal intensity; in hemochromatosis type 4, the signal intensity of the spleen is also markedly decreased. Figures are courtesy of Reto Bale, Innsbruck, Medical University, Austria. Clinical Gastroenterology and Hepatology 2005 3, DOI: ( /S (05) ) Copyright © 2005 American Gastroenterological Association Terms and Conditions

3 Figure 2 Proton transverse relaxation rate (R2) images and distributions for the liver of a subject hereditary hemochromatosis homozygous for C282Y at intervals during venesection therapy. Images were obtained by using the method of St Pierre et al.134 Higher R2 values correspond to higher tissue iron concentrations. The liver images illustrate the spatial variation of liver iron concentrations (LICs) throughout the liver, whereas the R2 distributions give quantitative information on the mean LIC and its variation in the organ. The mean LICs are derived from a calibration curve relating R2 to LIC, enabling noninvasive measurement of LIC with high sensitivity and specificity.16 Measurement of LIC in combination with measurement of body mass enables the number of blood units required for iron depletion by venesection to be estimated. Figure is courtesy of Dr Tim St Pierre, The University of Western Australia. Clinical Gastroenterology and Hepatology 2005 3, DOI: ( /S (05) ) Copyright © 2005 American Gastroenterological Association Terms and Conditions

4 Figure 3 Histologic appearances in hemochromatosis liver. (A) Perls’ stain of liver section from a cirrhotic patient with hemochromatosis type 1: intrahepatic iron deposition. (B) Hematoxylin-eosin stain of a liver section from a patient with hemochromatisis type 4 (ferroportin syndrome): hepatic hemosiderin deposits without affecting the hepatocytes. Clinical Gastroenterology and Hepatology 2005 3, DOI: ( /S (05) ) Copyright © 2005 American Gastroenterological Association Terms and Conditions

5 Figure 4 Histologic appearances in juvenile hemochromatosis. Sections from the heart of a 27-year-old woman who underwent heart transplantation for cardiac failure. Whole mount section of the heart muscle stained with (A) hematoxylin-eosin and (B) Perls’ stain. Both sections show iron deposits principally affecting the outer myocardial layer. (C and D) High-power view of the affected tissue showing iron deposits in cardiomyocytes in hematoxylin-eosin stained sections (C) and heart stained with Perls’ reagent.135 Clinical Gastroenterology and Hepatology 2005 3, DOI: ( /S (05) ) Copyright © 2005 American Gastroenterological Association Terms and Conditions


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