Hereditary Hemochromatosis
Mostrando 1-12 de 48 artigos, teses e dissertações.
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1. Como investigar um resultado de ferritina elevado?
Os casos de hiperferritinemia devem ser inicialmente investigados repetindo-se a dosagem de ferritina, além da dosagem de saturação de transferrina e hemograma com plaquetas. Deve-se investigar se o paciente tem história familiar de sobrecarga de ferro ou cirrose, história de reposição de ferro em excesso ou sobrecarga secundária a transfusões, u
Núcleo de Telessaúde Rio Grande do Sul. Publicado em: 12/06/2023
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2. Hereditary hemochromatosis beyond hyperferritinemia: Clinical and laboratory investigation of the patient’s profile submitted to phlebotomy in two reference centers in southern Brazil
Abstract Hereditary Hemochromatosis is a disorder characterized by iron deposition in several organs and hyperferritinemia. The most studied variants are linked to the HFE gene. In Brazil, surveys that characterize this population are scarce, with no sampling in the state of Rio Grande do Sul. Our objective is to carry out a data collection focusing on the p
Genetics and Molecular Biology. Publicado em: 2023
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3. Treatment of iron overload syndrome: a general review
RESUMO INTRODUÇÃO A síndrome de sobrecarga de ferro engloba um grande espectro de etiologias que levam a um aumento da quantidade de ferro nos tecidos. Esse ferro excede a capacidade de proteção dos tecidos, levando a dano oxidativo e lesão tissular. Tratamento pode prevenir esse dano, levando à melhor sobrevida. METODOLOGIA A literatura dos últi
Rev. Assoc. Med. Bras.. Publicado em: 10/10/2019
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4. Ancestral association between HLA and HFE H63D and C282Y gene mutations from northwest Colombia
A significant association between HFE gene mutations and the HLA-A*03-B*07 and HLA-A*29-B*44 haplotypes has been reported in the Spanish population. It has been proposed that these mutations are probably connected with Celtic and North African ancestry, respectively. We aimed to find the possible ancestral association between HLA alleles and haplotypes assoc
Genet. Mol. Biol.. Publicado em: 2015-03
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5. Porfiria cutânea tardia com mutações do gene da hemocromatose C282Y e H63D e análise retrospectiva do perfil de ferro em relação ao tratamento: estudo de 60 casos / Porphyria cutanea tarda with hemochromatosis gene mutations C282Y and H63D and retrospective analysis of the iron profile in relation to treatment: study of 60 cases
Background: Porphyria cutanea tarda (PCT) is the most common form of porphyria and is characterized by the decreased activity of the uroporphyrinogen decarboxylase enzyme. Several reports associated HFE gene mutations of hereditary hemochromatosis with PCT worldwide, although up to date only one study has been conducted in Brazil. Objective: Study the associ
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 24/10/2012
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6. 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 the pathophysiology of clinical syndromes classified as non-H
Rev. Bras. Hematol. Hemoter.. Publicado em: 2012
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7. 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 well as in genes involved in iron metabolism, such as transferr
Clinics. Publicado em: 2009
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8. The role of HFE gene mutations and iron overload in the history of chronic hepatitis C / O papel das mutações do gene HFE e da sobrecarga de ferro na evolução da hepatite crônica pelo VHC
Introdução: A infecção pelo VHC é uma epidemia de proporções globais, que se torna crônica em cerca de 85% dos indivíduos. Sobrecarga de ferro secundária a mutações HFE vem sendo proposta como fator agravante na evolução da hepatite crônica C. Objetivos: Avaliar se sobrecarga de ferro, mutações no gene HFE estão associadas a progressão da
Publicado em: 2009
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9. Simultaneous detection of the C282Y, H63D and S65C mutations in the hemochromatosis gene using quenched-FRET real-time PCR
Hereditary hemochromatosis (HH) is a common autosomal disorder of iron metabolism mainly affecting Caucasian populations. Three recurrent disease-associated mutations have been detected in the hemochromatosis gene (HFE): C282Y, H63D, and S65C. Although HH phenotype has been associated with all three mutations, C282Y is considered the most relevant mutation r
Brazilian Journal of Medical and Biological Research. Publicado em: 30/09/2008
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10. Análise das mutações C282Y e H63D no gene da proteína HFE em pacientes com hiperferritinemia
A hemocromatose hereditária (HH) é uma doença genética causada pela absorção e deposição elevada de ferro em vários órgãos. Este acúmulo resulta em complicações clínicas como cirrose, artrite, cardiopatias, diabetes, desordens sexuais e escurecimento da pele. As mutações H63D e C282Y estão bem definidas na etiologia da hemocromatose. O obje
Publicado em: 2007
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11. HFE gene mutations in Brazilian thalassemic patients
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 between thalassemia and hemochromatosis may further increase iron overload. The ethnic background of the Brazilian population is heterogeneous and studies analyzing the simultaneo
Brazilian Journal of Medical and Biological Research. Publicado em: 13/11/2006
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12. Hemochromatosis (HFE) gene mutations in Brazilian chronic hemodialysis patients
Patients with chronic renal insufficiency (CRI) have reduced hemoglobin levels, mostly as a result of decreased kidney production of erythropoietin, but the relation between renal insufficiency and the magnitude of hemoglobin reduction has not been well defined. Hereditary hemochromatosis is an inherited disorder of iron metabolism. The importance of the ass
Brazilian Journal of Medical and Biological Research. Publicado em: 2005-09