Non-HFE hemochromatosis

Detalhes bibliográficos
Autor(a) principal: Santos,Paulo Caleb Júnior de Lima
Data de Publicação: 2012
Outros Autores: Dinardo,Carla Luana, Cançado,Rodolfo Delfini, Schettert,Isolmar Tadeu, Krieger,José Eduardo, Pereira,Alexandre Costa
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Revista brasileira de hematologia e hemoterapia (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842012000400019
Resumo: 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 Non-HFE hemochromatosisHemochromatosisIron overloadIron metabolism disordersHereditary 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 e Terapia Celular2012-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842012000400019Revista Brasileira de Hematologia e Hemoterapia v.34 n.4 2012reponame:Revista brasileira de hematologia e hemoterapia (Online)instname:Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)instacron:ABHHTC10.5581/1516-8484.20120079info:eu-repo/semantics/openAccessSantos,Paulo Caleb Júnior de LimaDinardo,Carla LuanaCançado,Rodolfo DelfiniSchettert,Isolmar TadeuKrieger,José EduardoPereira,Alexandre Costaeng2012-09-06T00:00:00Zoai:scielo:S1516-84842012000400019Revistahttp://www.rbhh.org/pt/archivo/https://old.scielo.br/oai/scielo-oai.phpsbhh@terra.com.br||secretaria@rbhh.org1806-08701516-8484opendoar:2012-09-06T00:00Revista brasileira de hematologia e hemoterapia (Online) - Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)false
dc.title.none.fl_str_mv Non-HFE hemochromatosis
title Non-HFE hemochromatosis
spellingShingle Non-HFE hemochromatosis
Santos,Paulo Caleb Júnior de Lima
Hemochromatosis
Iron overload
Iron metabolism disorders
title_short Non-HFE hemochromatosis
title_full Non-HFE hemochromatosis
title_fullStr Non-HFE hemochromatosis
title_full_unstemmed Non-HFE hemochromatosis
title_sort Non-HFE hemochromatosis
author Santos,Paulo Caleb Júnior de Lima
author_facet Santos,Paulo Caleb Júnior de Lima
Dinardo,Carla Luana
Cançado,Rodolfo Delfini
Schettert,Isolmar Tadeu
Krieger,José Eduardo
Pereira,Alexandre Costa
author_role author
author2 Dinardo,Carla Luana
Cançado,Rodolfo Delfini
Schettert,Isolmar Tadeu
Krieger,José Eduardo
Pereira,Alexandre Costa
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Santos,Paulo Caleb Júnior de Lima
Dinardo,Carla Luana
Cançado,Rodolfo Delfini
Schettert,Isolmar Tadeu
Krieger,José Eduardo
Pereira,Alexandre Costa
dc.subject.por.fl_str_mv Hemochromatosis
Iron overload
Iron metabolism disorders
topic Hemochromatosis
Iron overload
Iron metabolism disorders
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.
publishDate 2012
dc.date.none.fl_str_mv 2012-01-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842012000400019
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842012000400019
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.5581/1516-8484.20120079
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular
publisher.none.fl_str_mv Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular
dc.source.none.fl_str_mv Revista Brasileira de Hematologia e Hemoterapia v.34 n.4 2012
reponame:Revista brasileira de hematologia e hemoterapia (Online)
instname:Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)
instacron:ABHHTC
instname_str Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)
instacron_str ABHHTC
institution ABHHTC
reponame_str Revista brasileira de hematologia e hemoterapia (Online)
collection Revista brasileira de hematologia e hemoterapia (Online)
repository.name.fl_str_mv Revista brasileira de hematologia e hemoterapia (Online) - Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)
repository.mail.fl_str_mv sbhh@terra.com.br||secretaria@rbhh.org
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