Hereditary hemochromatosis
Hereditary hemochromatosis (HH) is the most commonly identified autosomal recessive genetic disorder in the white population, characterized by increased intestinal iron absorption and secondary abnormal accumulation in parenchymal organs, not infrequently accompanied by functional impairment. This e...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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University of São Paulo
2015-03-01
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| Series: | Autopsy and Case Reports |
| Subjects: | |
| Online Access: | http://www.revistas.usp.br/autopsy/article/view/98450 |
| _version_ | 1818645426631344128 |
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| author | Stephen A. Geller Fernando Peixoto Ferraz de Campos |
| author_facet | Stephen A. Geller Fernando Peixoto Ferraz de Campos |
| author_sort | Stephen A. Geller |
| collection | DOAJ |
| description | Hereditary hemochromatosis (HH) is the most commonly identified autosomal recessive genetic disorder in the white population, characterized by increased intestinal iron absorption and secondary abnormal accumulation in parenchymal organs, not infrequently accompanied by functional impairment. This entity is associated with mutations of the HFE gene (located on the short arm of chromosome 6 at location 6p22.2; closely linked to the HLA-A3 locus), which encodes the HFE protein, a membrane protein thought to regulate iron absorption by affecting the interaction between transferrin receptor and transferrin. |
| first_indexed | 2024-12-17T00:30:34Z |
| format | Article |
| id | doaj.art-85c86c9a341047358c26dbf81ded2905 |
| institution | Directory Open Access Journal |
| issn | 2236-1960 |
| language | English |
| last_indexed | 2024-12-17T00:30:34Z |
| publishDate | 2015-03-01 |
| publisher | University of São Paulo |
| record_format | Article |
| series | Autopsy and Case Reports |
| spelling | doaj.art-85c86c9a341047358c26dbf81ded29052022-12-21T22:10:20ZengUniversity of São PauloAutopsy and Case Reports2236-19602015-03-015110.4322/acr.%y.9845088468Hereditary hemochromatosisStephen A. Geller0Fernando Peixoto Ferraz de Campos1Department of Pathology and Laboratory Medicine - David Geffen School of Medicine - University of California, Los Angeles/CA Department of Pathology and Laboratory Medicine - Weill Cornell Medical College, New York/NYInternal Medicine Division - Hospital Universitário - University of São Paulo, São Paulo/SPHereditary hemochromatosis (HH) is the most commonly identified autosomal recessive genetic disorder in the white population, characterized by increased intestinal iron absorption and secondary abnormal accumulation in parenchymal organs, not infrequently accompanied by functional impairment. This entity is associated with mutations of the HFE gene (located on the short arm of chromosome 6 at location 6p22.2; closely linked to the HLA-A3 locus), which encodes the HFE protein, a membrane protein thought to regulate iron absorption by affecting the interaction between transferrin receptor and transferrin.http://www.revistas.usp.br/autopsy/article/view/98450HemochromatosisIron OverloadLiver DiseasesPancreatic Disease |
| spellingShingle | Stephen A. Geller Fernando Peixoto Ferraz de Campos Hereditary hemochromatosis Autopsy and Case Reports Hemochromatosis Iron Overload Liver Diseases Pancreatic Disease |
| title | Hereditary hemochromatosis |
| title_full | Hereditary hemochromatosis |
| title_fullStr | Hereditary hemochromatosis |
| title_full_unstemmed | Hereditary hemochromatosis |
| title_short | Hereditary hemochromatosis |
| title_sort | hereditary hemochromatosis |
| topic | Hemochromatosis Iron Overload Liver Diseases Pancreatic Disease |
| url | http://www.revistas.usp.br/autopsy/article/view/98450 |
| work_keys_str_mv | AT stephenageller hereditaryhemochromatosis AT fernandopeixotoferrazdecampos hereditaryhemochromatosis |