HFE gene
HFE gene mutations in Brazilian
... of HFE and thalassemia-related mutations have not been carried ...the HFE gene among 102 individuals with alpha-thalassemia and 168 beta-thalassemia heterozygotes and to compare them with 173 control ...
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HFE gene mutation and oxidative damage biomarkers in patients with syndromes and its relation to transfusional iron oload : an observational crosssectional study
... the HFE gene. Of three mutations in the gene HFE (C282Y; H63D; S65C) evaluated, one of our cases presented two variants (C282Y; H63D) and the highest level of serum ferritin (11 649 ...
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Analysis of HFE gene mutations and HLA-A alleles in Brazilian patients with iron overload
... An increasing number of mutations in other genes (ferroportin, transferrin receptor 2 and aceruloplasminemia) have been identi- fied as causing iron overload. There will likely be additional hemochromatosis mutations ...
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Mutations in the HFE gene (C282Y, H63D, S65C) in a Brazilian population
... defective gene in the majority of cases, HFE, was identified in ...the HFE gene have been correlated with HH: C282Y is significantly associated with HH; H63D and S65C have unclear ...the ...
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Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis
... These findings are different from those reported for Northern Europe, where more than 90% of the patients are C282Y ho- mozygotes or C282Y and H63D compound heterozygotes (5,20-25), but agree with re- cent data reported ...
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Mutations in the HFE gene and sporadic amyotrophic lateral sclerosis risk: a meta-analysis of observational studies
... the HFE gene may be involved in the development of sporadic amyotrophic lateral sclerosis (ALS) through the disruption of iron ...of HFE in ALS ...in HFE could be a potential protective factor ...
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Comparison of oxidative stress and the frequency of polymorphisms in the HFE gene between hemoglobin S trait blood donors and sickle cell disease patients
... The hemoglobin proiles were conirmed using: hemoglobin electrophoresis in alka- line pH cellulose acetate; acidic pH electrophoresis; and high-performance liquid chromatog- raphy (HPLC) (Bonini-Domingos et al., 2006). ...
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Lack of evidence for the pathogenic role of iron and HFE gene mutations in Brazilian patients with nonalcoholic steatohepatitis
... with HFE gene mutations in the pathogenesis of nonalcoholic steatohepatitis (NASH) has been raised in recent ...and HFE mutations was investigated in NASH ...and HFE mutations with NASH was ...
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HFE gene mutations in coronary atherothrombotic disease
... involved gene, currently designated HFE (formerly HLA-H) (17). The HFE gene has been se- quenced, and two missense point mutations have been identified: a substitution of ty- rosine for ...
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POST-TRANSCRIPTIONAL REGULATION OF HFE GENE EXPRESSION
... human HFE transcripts. (A) The diagram shows the human HFE 3’ untranslated region comprising exons (Ex) 6 and ...the HFE mRNA 3’ end ...human HFE 3’ untranslated regions identified and ...
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Rev. Bras. Hematol. Hemoter. vol.31 número5
... Hemoglobin S has an effect on blood cells, triggering oxidative processes with the formation of free radicals. A similar effect is observed with iron overload as a result of hereditary hemo- chromatosis. Defects of the ...
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Rev. Bras. Hematol. Hemoter. vol.30 número5
... that HFE gene mutations are more frequent in the Caucasian population, however, there are discrepancies among the diverse world ...the HFE gene among Brazilian individuals with clinical ...
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Analysis of the induction of the cytoprotective Nrf2 signalling pathway in reticuloendothelial cells from iron-treated mice and HFE Haemochromatosis patients
... the HFE gene, resulting in continued iron ...the HFE C282Y mutation in ...in HFE- HH patients, access to liver biopsies is difficult and poses ethical ...
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Estudo das mutações C282Y, H63D e S65C do gene HFE em doentes brasileiros com sobrecarga de ferro.
... the HFE gene in Brazilian patients with iron overload, to verify the coexistence of chronic hemolytic anemia, hepatitis C and excessive alcohol consumption and to evaluate the influence of these variables ...
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Arq. Gastroenterol. vol.49 número1
... of HFE gene mutations had any effect on the sustained virological response rate to interferon based therapy in chronic hepatitis C patients with elevated serum ...IU/mL. HFE gene mutation was ...
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J. Bras. Patol. Med. Lab. vol.52 número1
... Hereditary hemochromatosis (HH) is an autosomal recessive disorder caused by mutations in the HFE gene; it is characterized by the risk of iron overload. C282Y and H63D are the most associated mutations in ...
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Ancestral association between HLA and HFE H63D and C282Y gene
... Hereditary hemochromatosis (HH, OMIM #235200) is an autosomal recessive disorder of iron metabolism, characterized by increased iron absorption leading to se- vere iron deposition and damage of different organs (Janssen ...
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Rev. Bras. Hematol. Hemoter. vol.34 número4
... between HFE mutations and HH was discovered in 1996, it became evident that there are cases of HH that cannot be explained by HFE gene ...with HFE mutations are collectively referred to as ...
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Alterações moleculares associadas à hemocromatose hereditária.
... the HFE, HJV, HAMP, TFR2 and SLC40A1 genes, ...three HFE gene mutations (C282Y, H63D and S65C) in the Brazilian population however there are no Brazilian studies that evaluate the presence of ...
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ISSN 0100-879X BIOMEDICAL SCIENCES AND CLINICAL INVESTIGATION
... (21). HFE C282Y and TFR2 Y250X mutations were detected by the poly- merase chain reaction and restriction fragment length poly- morphism analysis (PCR-RFLP) as previously described ...the HFE (H63D and ...
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