Non-HFE hemochromatosis

Hereditary hemochromatosis (HH) is an autosomal recessive disorder classically related to HFE mutations. However, since 1996, it is known that HFE mutations explain about 80% of HH cases, with the remaining around 20% denominated non-HFE hemochromatosis. Nowadays, four main genes are implicated in t...

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Autores principales: Santos, Paulo Caleb Júnior de Lima, Dinardo, Carla Luana, Cançado, Rodolfo Delfini, Schettert, Isolmar Tadeu, Krieger, José Eduardo, Pereira, Alexandre Costa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Associação Brasileira de Hematologia e Hemoterapia 2012
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3460409/
https://www.ncbi.nlm.nih.gov/pubmed/23049448
http://dx.doi.org/10.5581/1516-8484.20120079
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author Santos, Paulo Caleb Júnior de Lima
Dinardo, Carla Luana
Cançado, Rodolfo Delfini
Schettert, Isolmar Tadeu
Krieger, José Eduardo
Pereira, Alexandre Costa
author_facet Santos, Paulo Caleb Júnior de Lima
Dinardo, Carla Luana
Cançado, Rodolfo Delfini
Schettert, Isolmar Tadeu
Krieger, José Eduardo
Pereira, Alexandre Costa
author_sort Santos, Paulo Caleb Júnior de Lima
collection PubMed
description Hereditary hemochromatosis (HH) is an autosomal recessive disorder classically related to HFE mutations. However, since 1996, it is known that HFE mutations explain about 80% of HH cases, with the remaining around 20% denominated non-HFE hemochromatosis. Nowadays, four main genes are implicated in the pathophysiology of clinical syndromes classified as non-HFE hemochromatosis: hemojuvelin (HJV, type 2Ajuvenile HH), hepcidin (HAMP, type 2B juvenile HH), transferrin receptor 2 (TFR2, type 3 HH) and ferroportin (SLC40A1, type 4 HH). The aim of this review is to explore molecular, clinical and management aspects of non-HFE hemochromatosis.
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spelling pubmed-34604092012-10-04 Non-HFE hemochromatosis Santos, Paulo Caleb Júnior de Lima Dinardo, Carla Luana Cançado, Rodolfo Delfini Schettert, Isolmar Tadeu Krieger, José Eduardo Pereira, Alexandre Costa Rev Bras Hematol Hemoter Review Article Hereditary hemochromatosis (HH) is an autosomal recessive disorder classically related to HFE mutations. However, since 1996, it is known that HFE mutations explain about 80% of HH cases, with the remaining around 20% denominated non-HFE hemochromatosis. Nowadays, four main genes are implicated in the pathophysiology of clinical syndromes classified as non-HFE hemochromatosis: hemojuvelin (HJV, type 2Ajuvenile HH), hepcidin (HAMP, type 2B juvenile HH), transferrin receptor 2 (TFR2, type 3 HH) and ferroportin (SLC40A1, type 4 HH). The aim of this review is to explore molecular, clinical and management aspects of non-HFE hemochromatosis. Associação Brasileira de Hematologia e Hemoterapia 2012 /pmc/articles/PMC3460409/ /pubmed/23049448 http://dx.doi.org/10.5581/1516-8484.20120079 Text en http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review Article
Santos, Paulo Caleb Júnior de Lima
Dinardo, Carla Luana
Cançado, Rodolfo Delfini
Schettert, Isolmar Tadeu
Krieger, José Eduardo
Pereira, Alexandre Costa
Non-HFE hemochromatosis
title Non-HFE hemochromatosis
title_full Non-HFE hemochromatosis
title_fullStr Non-HFE hemochromatosis
title_full_unstemmed Non-HFE hemochromatosis
title_short Non-HFE hemochromatosis
title_sort non-hfe hemochromatosis
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3460409/
https://www.ncbi.nlm.nih.gov/pubmed/23049448
http://dx.doi.org/10.5581/1516-8484.20120079
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AT dinardocarlaluana nonhfehemochromatosis
AT cancadorodolfodelfini nonhfehemochromatosis
AT schettertisolmartadeu nonhfehemochromatosis
AT kriegerjoseeduardo nonhfehemochromatosis
AT pereiraalexandrecosta nonhfehemochromatosis

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