Volume 122, Issue 5, Pages (May 2002)

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Volume 122, Issue 5, Pages 1295-1302 (May 2002) Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene Domenico Girelli, Claudia Bozzini, Antonella Roetto, Federica Alberti, Filomena Daraio, Romano Colombari, Oliviero Olivieri, Roberto Corrocher, Clara Camaschella Gastroenterology Volume 122, Issue 5, Pages 1295-1302 (May 2002) DOI: 10.1053/gast.2002.32984 Copyright © 2002 American Gastroenterological Association Terms and Conditions

Fig. 1 Pedigree of the family. Affected members are represented by filled symbols. Intrafamilial segregation of 2 TFR2 intragenic repeats (R1 and R2) showing identical haplotypes in affected siblings is reported. Gastroenterology 2002 122, 1295-1302DOI: (10.1053/gast.2002.32984) Copyright © 2002 American Gastroenterological Association Terms and Conditions

Fig. 2 The first liver biopsy specimen of the proband (II:1) performed in 1988 at another hospital. (A) A well-preserved portal tract; the cytoplasm of periportal hepatocytes is engulfed by brown pigment (H&E; original magnification 250×). (B) The hemosiderin (grade III) nature of the brown pigment is clearly shown (Perls' Prussian blue stain; original magnification 250×). Gastroenterology 2002 122, 1295-1302DOI: (10.1053/gast.2002.32984) Copyright © 2002 American Gastroenterological Association Terms and Conditions

Fig. 3 The second liver biopsy specimen of the proband, performed in September 2000 at our department. (A) The morphologic features are rather similar to Figure 2A (H&E; original magnification 250×). B shows no significant fibrosis, small portal tracts, and normal thin walls of terminal hepatic veins (Masson trichrome stain; original magnification 100×). C shows hemosiderin deposits of grade IV in zone 1 hepatocytes (Perls' Prussian blue stain; original magnification 250×). Gastroenterology 2002 122, 1295-1302DOI: (10.1053/gast.2002.32984) Copyright © 2002 American Gastroenterological Association Terms and Conditions

Fig. 4 The liver biopsy specimen of the proband's sister (II:4) at the age of 14 years, performed in 1987 at another hospital. A shows a portal space and distribution of iron deposition with a decreasing gradient starting from periportal hepatocytes (Perls' Prussian blue stain; original magnification 250×). B shows short and slender septa originating from portal tracts (Masson trichrome stain; original magnification 100×). Gastroenterology 2002 122, 1295-1302DOI: (10.1053/gast.2002.32984) Copyright © 2002 American Gastroenterological Association Terms and Conditions

Fig. 5 Mutation detection. (A) Sequencing chromatographs of the forward sequence of the exon 16 spanning the 12-nucleotide deletion. Patient II:2 is compared with a healthy control. The arrow indicates the beginning of the deletion. (B) Alignment of the wild-type (normal) and mutated (patient) nucleotide sequence, with the predicted loss of 4 amino acids (AVAQ) originated by the 12-nucleotide deletion. (C) Segregation of the AVAQ 594–597 deletion within the family by acrylamide gel electrophoresis. MWM, molecular-weight markers. (D) Amino acid sequence alignment of the region involving the doublet AVAQ in human and murine TFRs. An almost identical sequence is present in murine TFR2 but is not present in human or murine TFR1. Gastroenterology 2002 122, 1295-1302DOI: (10.1053/gast.2002.32984) Copyright © 2002 American Gastroenterological Association Terms and Conditions