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Clinicopathological study of Japanese patients with genetic iron overload syndromes
Author(s) -
Hattori Ai,
Miyajima Hiroaki,
Tomosugi Naohisa,
Tatsumi Yasuaki,
Hayashi Hisao,
Wakusawa Shinya
Publication year - 2012
Publication title -
pathology international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.73
H-Index - 74
eISSN - 1440-1827
pISSN - 1320-5463
DOI - 10.1111/j.1440-1827.2012.02848.x
Subject(s) - ferroportin , hepcidin , hemochromatosis , hamp , hereditary hemochromatosis , transferrin saturation , pathology , phenotype , medicine , transferrin , ferritin , biology , anemia , genetics , gene , serum ferritin
In addition to hemochromatosis, aceruloplasminemia and ferroportin disease may be complicated by iron‐induced multiple organ damage. Therefore, clinicopathological features should be evaluated in a wider range of genetic iron disorders. This study included 16 Japanese patients with genetic iron overload syndromes. The responsible genes were CP in four, HAMP in one, HJV in three, TFR2 in five, and SLC40A1 in three patients. No phenotype dissociation was observed in patients with the CP, TFR2, or HAMP genotypes. Two of the three patients with the HJV genotype displayed classic hemochromatosis instead of the juvenile type. Patients with the SLC40A1 genotype were affected by mild iron overload (ferroportin A) or severe iron overload (ferroportin B). Transferrin saturation was unusually low in aceruloplasminemia patients. All patients, except those with ferroportin disease, displayed low serum hepcidin‐25 levels. Liver pathology showed phenotype‐specific changes; isolated parenchymal iron loading in aceruloplasminemia, periportal fibrosis associated with heavy iron overload in both parenchymal and Kupffer cells of ferroportin B, and parenchyma‐dominant iron‐loading cirrhosis in hemochromatosis. In contrast, diabetes occurred in all phenotypes of aceruloplasminemia, hemochromatosis, and ferroportin disease B. In conclusion, clinicopathological features were partially characterized in Japanese patients with genetic iron overload syndromes.