Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis

Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis

BACKGROUND: Approximately one-half of Brazilian patients with hereditary hemochromatosis (HH) are neither homozygous for the C282Y mutation nor compound heterozygous for the H63D and C282Y mutations that are associated with HH in Caucasians. Other mutations have been described in the HFE gene as wel...

Full description

Bibliographic Details
Main Authors:	Paulo Lisboa Bittencourt, Maria Lúcia Carnevale Marin, Cláudia Alves Couto, Eduardo Luiz Rachid Cançado, Flair José Carrilho, Anna Carla Goldberg
Format:	Article
Language:	English
Published:	Elsevier España 2009-01-01
Series:	Clinics
Subjects:	Hereditary hemochromatosis Iron overload HFE mutations Gene mutations Brazil
Online Access:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322009000900003

Similar Items

HFE hemochromatosis: an overview about therapeutic recommendations
by: Rodolfo D. Cancado, et al.
Published: (2022-01-01)

Possible roles of the hereditary hemochromatosis protein, HFE, in regulating cellular iron homeostasis
by: CAROLINE A ENNS
Published: (2006-01-01)

New Mutations in <i>HFE2</i> and <i>TFR2</i> Genes Causing Non <i>HFE</i>-Related Hereditary Hemochromatosis
by: Gonzalo Hernández, et al.
Published: (2021-12-01)

Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis
by: Wei Zhang, et al.
Published: (2022-06-01)

HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case
by: Wei Zhang, et al.
Published: (2020-02-01)

Hfe Gene Knock-Out in a Mouse Model of Hereditary Hemochromatosis Affects Bodily Iron Isotope Compositions
by: Emmanuelle Albalat, et al.
Published: (2021-10-01)

Non-HFE hemochromatosis
by: Paulo Caleb Júnior de Lima Santos, et al.
Published: (2012-01-01)

Blood donation for iron removal in individuals with HFE mutations: study of efficacy and safety and short review on hemochromatosis and blood donation
by: Laura Infanti, et al.
Published: (2024-03-01)

Study of the effect of HFE gene mutations on iron overload in Egyptian thalassemia patients
by: Manal Michel Wilson, et al.
Published: (2015-04-01)

Inflammation can increase hepcidin in HFE‐hereditary hemochromatosis
by: Wenke Moris, et al.
Published: (2021-05-01)

Effect of <i>HFE</i> Gene Mutations on Iron Metabolism of Beta-Thalassemia Carriers
by: María E. Mónaco, et al.
Published: (2023-03-01)

Association of HFE mutations (C282Y and H63D) with iron overload in blood donors from Mexico City
by: Héctor A. Baptista-González;, et al.
Published: (2007-01-01)

HLA-A and -B alleles and haplotypes in hemochromatosis probands with <it>HFE</it> C282Y homozygosity in central Alabama
by: Barton James C, et al.
Published: (2002-10-01)

Hereditary hemochromatosis associated with the development of liver cirrhosis
by: Taylla S. Costa, et al.
Published: (2021-05-01)

FREQUENCY OF HFE GENE MUTATION IN IRON OVERLOAD PATIENTS
by: Dr. Noreen, et al.
Published: (2019-06-01)

Frequency of hereditary hemochromatosis gene mutations and their effects on iron overload among beta thalassemia patients of Chennai residents
by: Bhuvana Selvaraj, et al.
Published: (2021-11-01)

Mutations in the HFE gene (C282Y, H63D, S65C) in a Brazilian population Mutações no gene HFE (C282Y, H63D, S65C) em uma população brasileira
by: Simone Bueno, et al.
Published: (2006-12-01)

From Environment to Genome and Back: A Lesson from <i>HFE</i> Mutations
by: Raffaela Rametta, et al.
Published: (2020-05-01)

Hemochromatosis in a β‐thalassemia minor patient with H63D homozygous mutation: A case report
by: Nishan Babu Pokhrel, et al.
Published: (2020-12-01)

Alterações moleculares associadas à hemocromatose hereditária Molecular changes associated with hereditary hemochromatosis
by: Paulo C. J. L. Santos, et al.
Published: (2009-01-01)

Do pregnancies reduce iron overload in HFE hemochromatosis women? results from an observational prospective study
by: Virginie Scotet, et al.
Published: (2018-02-01)

Hereditary hemochromatosis caused by a C282Y/H63D mutation in the HFE gene: A case report
by: Dongdong Li, et al.
Published: (2024-04-01)

Molecular basis of HFE-hemochromatosis
by: Maja eVujic Spasic
Published: (2014-03-01)

Mutations in HFE and TFR2 genes in a Spanish patient with hemochromatosis Mutaciones en los genes HFE y TFR2 en un paciente español con hemocromatosis
by: Alejandro del-Castillo-Rueda, et al.
Published: (2011-07-01)

HFE gene mutations and iron status of Brazilian blood donors
by: P.C.J.L. Santos, et al.
Published: (2010-01-01)

Hemochromatosis (HFE) gene mutations in Brazilian chronic hemodialysis patients
by: F.V. Perícole, et al.
Published: (2005-09-01)

Hfe Actions in Kupffer Cells Are Dispensable for Hepatic and Systemic Iron Metabolism
by: Paul Knoop, et al.
Published: (2023-05-01)

Lack of evidence for the pathogenic role of iron and HFE gene mutations in Brazilian patients with nonalcoholic steatohepatitis
by: M.M. Deguti, et al.
Published: (2003-06-01)

Hepcidin and HFE Polymorphisms and Ferritin Level in β-Thalassemia Major
by: Kiavash Fekri, et al.
Published: (2019-01-01)

Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review
by: Xiaomu Kong, et al.
Published: (2019-07-01)

Juvenile hemochromatosis associated with heterozygosity for novel hemojuvelin mutations and with unknown cofactors
by: Serena Pelusi, et al.
Published: (2014-09-01)

HFE gene mutations in coronary atherothrombotic disease
by: R.T. Calado, et al.
Published: (2000-03-01)

Therapeutic Erythrocytapheresis in the Initial Treatment of Hereditary Hemochromatosis
by: Vít Řeháček, et al.
Published: (2012-01-01)

Juvenile Hemochromatosis: Rheumatic Manifestations of 2 Sisters Responding to Deferasirox Treatment. A Case Series and Literature Review
by: Alqanatish J, et al.
Published: (2021-01-01)

Hereditary hemochromatosis beyond hyperferritinemia: Clinical and laboratory investigation of the patient’s profile submitted to phlebotomy in two reference centers in southern Brazil
by: Nathalia Kersting, et al.
Published: (2023-05-01)

Dietary Iron Overload and <i>Hfe<sup>−/−</sup></i> Related Hemochromatosis Alter Hepatic Mitochondrial Function
by: Christine Fischer, et al.
Published: (2021-11-01)

The Role of the Trabecular Bone Score in the Assessment of Osteoarticular Disorders in Patients with <i>HFE</i>-Hemochromatosis: A Single-Center Study from Poland
by: Katarzyna Banaszkiewicz, et al.
Published: (2021-08-01)

Homozygosity For The C282Y Substitution In The HFE Gene: The Incomplete Penetrance And Variable Expressivity
by: Dilum Ekanayake, et al.
Published: (2015-01-01)

Coinheritance of hereditary spherocytosis and reversibility of cirrhosis in a young female patient with hereditary hemochromatosis
by: Höblinger A, et al.
Published: (2009-04-01)

Screening for Hereditary Hemochromatosis in Newly Referred Diabetes Mellitus
by: Michael Lockhart, et al.
Published: (2023-12-01)