HFE gene: Structure, function, mutations, and associated iron abnormalities

JC Barton, CQ Edwards, RT Acton - Gene, 2015 - Elsevier
The hemochromatosis gene HFE was discovered in 1996, more than a century after clinical
and pathologic manifestations of hemochromatosis were reported. Linked to the major …

Geography of HFE C282Y and H63D Mutations

AT Merryweather-Clarke, JJ Pointon, AM Jouanolle… - Genetic …, 2000 - liebertpub.com
Hereditary hemochromatosis (HH) is a common autosomal recessive disorder causing
inappropriate dietary iron absorption that affects North Europeans. HH is associated with the …

Visão atual da hemocromatose hereditária

RD Cançado, CS Chiattone - Revista Brasileira de hematologia e …, 2010 - SciELO Brasil
A hemocromatose hereditária (HH) está relacionada a diversos distúrbios do metabolismo
do ferro que ocasionam sua sobrecarga tecidual. A HH clássica está associada às …

Lack of evidence for the pathogenic role of iron and HFE gene mutations in Brazilian patients with nonalcoholic steatohepatitis

MM Deguti, AM Sipahi, LCC Gayotto… - Brazilian journal of …, 2003 - SciELO Brasil
The hypothesis of the role of iron overload associated with HFE gene mutations in the
pathogenesis of nonalcoholic steatohepatitis (NASH) has been raised in recent years. In the …

HFE gene mutations in Brazilian thalassemic patients

TM Oliveira, FP Souza, ACG Jardim… - Brazilian journal of …, 2006 - SciELO Brasil
Hereditary hemochromatosis is a disorder of iron metabolism characterized by increased
iron intake and progressive storage and is related to mutations in the HFE gene. Interactions …

Celiac disease in Brazilian adults

IN de Freitas, AM Sipahi, AOMC Damião… - Journal of clinical …, 2002 - journals.lww.com
Forty-eight adult patients with celiac disease between 15 and 68 years of age (mean, 41
years) were studied. Sixty-seven percent were female and 33% were male patients. Most of …

Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis

PL Bittencourt, SA Palácios, CA Couto… - Brazilian journal of …, 2002 - SciELO Brasil
The hemochromatosis gene, HFE, is located on chromosome 6 in close proximity to the HLA-
A locus. Most Caucasian patients with hereditary hemochromatosis (HH) are homozygous …

Estudo das mutações C282Y, H63D e S65C do gene HFE em doentes brasileiros com sobrecarga de ferro

RD Cançado, ACO Guglielmi… - Revista Brasileira de …, 2007 - SciELO Brasil
Hemocromatose é uma das doenças genéticas mais freqüentes no ser humano e uma das
causas mais importantes de sobrecarga de ferro. Os objetivos deste estudo foram …

HFE gene mutations and iron status of Brazilian blood donors

P Santos, RD Cancado, CT Terada… - Brazilian Journal of …, 2010 - SciELO Brasil
Mutations of the HFE and TFR2 genes have been associated with iron overload. HFE and
TFR2 mutations were assessed in blood donors, and the relationship with iron status was …

Alterações moleculares associadas à hemocromatose hereditária

PCJL Santos, RD Cançado, CT Terada… - Revista Brasileira de …, 2009 - SciELO Brasil
A hemocromatose hereditária (HH) é a mais comum doença autossômica em caucasianos e
caracteriza-se pelo aumento da absorção intestinal de ferro, o qual resulta em acúmulo …