Mutations in the HFE gene (C282Y, H63D, S65C) in a Brazilian population

Bueno, S L S; Duch, Cibele R.; Figueiredo, Maria Stella

doi:10.1590/s1516-84842006000400015

Cited by 13 publications

(23 citation statements)

References 19 publications

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“…The HFE 65C allele frequency (0.6%, P > 0.05) in this sample was similar to that found in another Brazilian study (1.0%) (15) and in blood donors from Northern Italy (0.74%) (25) and from the Faroe Islands (1.0%) (27).…”

Section: Discussionsupporting

confidence: 90%

“…However, the ethnic classification was based on self-identified skin color categorization, which could be considered a limitation of this study. The frequency of the HFE 63D allele in the present study (13.6%, P > 0.05) was similar to that found in studies with blood donors from several regions of Italy (14.4-14.9%) (25,29), in White individuals from the United States (15.0%) (30), and in two studies of healthy Brazilian blood donors (10.8 and 10.9%, P > 0.05) (14,15).…”

Section: Discussionsupporting

confidence: 89%

“…A few studies have evaluated the frequency of the HFE C282Y mutation in Brazilian healthy individuals, but the effect of this mutation on iron status in Brazilian healthy blood donors is not known (14)(15)(16). In addition, the frequency of TFR2 mutations in the Brazilian healthy population is also not known.…”

Section: Introductionmentioning

confidence: 99%

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HFE gene mutations and iron status of Brazilian blood donors

Santos¹,

Cançado²,

Terada³

et al. 2010

Braz J Med Biol Res

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Section: Discussionsupporting

confidence: 90%

Section: Discussionsupporting

confidence: 89%

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HFE gene mutations and iron status of Brazilian blood donors

Santos¹,

Cançado²,

Terada³

et al. 2010

Braz J Med Biol Res

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“…While the 633 patients with suspicion of HH analyzed in this study showed a genotypic frequency of 0.016 for heterozygosity and allelic frequency of 0.008 for mutation, other Brazilian studies on S65C showed an allelic frequency of 0.010 in 148 healthy individuals (Bueno et al, 2006), 0.0087 in 173 healthy individuals without hemoglobinopathies (Oliveira et al, 2006) and zero in 35 patients with iron overload (Cançado et al, 2006). This study had a limited sample size and low frequency of this mutation affects benchmarks that allow more detailed conclusions.…”

Section: Discussioncontrasting

confidence: 62%

Frequency of the S65C mutation in the hemochromatosis gene in Brazil

Oliveira¹,

Caxito²,

Gomes³

et al. 2009

Genet. Mol. Res.

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ABSTRACT. Development of hereditary hemochromatosis is associated with the C282Y, H63D or S65C mutations in the hemochromatosis gene. Though there is extensive knowledge about the former two, there is little information on the mechanism of action and the allelic frequency of the S65C mutation. We examined the prevalence of the S65C mutation of the hemochromatosis gene in Brazilians with clinical suspicion of hereditary hemochromatosis. Genotyping for this mutation was carried out in 633 individuals with clinical suspicion of hereditary hemochromatosis, using the polymerase chain reaction, followed by enzymatic digestion. The sample comprised 77.1% men and 22.9% women, giving a ratio of approximately 3:1; the mean age was 48.8 + 13.8 years. More than half (57.3%) of the individuals in the sample were 41 to 60 years old. The frequency of heterozygotes for this mutation was 0.016; no homozygous mutant patients were found. S65C mutation in BrazilThis is the first analysis of the S65C mutation in individuals suspected of having hereditary hemochromatosis in Brazil.

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“…The prevalence of the HFE gene alleles C282Y, H63D and S65C in the general healthy population in Brazil ranges from 1.15-2.19%, 9.54-14.57 and 0.31-1%, respectively. At the same time, for the patient group, the alleles range from 7.36-50% for C282Y, 6.25-26.59% for H63D and 0-2.23% for S65C (Bueno et al, 2006;Oliveira et al, 2006;Cançado et al, 2006;Cançado et al, 2007;Santos et al, 2010;Santos et al, 2011;Leão et al, 2014;Dionísio Tavares Niewiadonski et al, 2015). The different number of samples and the region of each study can explain the variations in the frequency of the HFE gene polymorphisms in Brazil.…”

Section: Discussionmentioning

confidence: 97%

Molecular epidemiology of HFE gene polymorphic variants (C282Y, H63D and S65C) in the population of Espírito Santo, Brazil

et al. 2016

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ABSTRACT. Hereditary hemochromatosis (HH) is an autosomal recessive disorder that leads to progressive iron accumulation and may cause cirrhosis, hepatocellular carcinoma, diabetes, and heart failure. Most cases of HH have been linked to mutations in genes associated with iron homeostasis. There have been three major variants in the high Fe (HFE) gene associated with the disease: C282Y, H63D and S65C. In this context, we aimed to evaluate the prevalence of the polymorphic variants (C282Y, H63D and S65C) of the HFE gene in the population of the Espírito Santo State (ES), Brazil by analyzing three different groups: general population (N = 120), Pomeranian descendants (N = 59), and patients with HH (N = 20). Using genomic DNA extracted from peripheral blood, polymorphic variant identification was performed by polymerase chain reaction-restriction fragment length polymorphism. Statistically significant differences were observed for genotype distribution of C282Y (P < 0.001) and H63D (P = 0.013) between the general population and the patients diagnosed with HH. This is the first study to analyze HFE gene allele frequencies for the general population, Pomeranian subpopulation, and patients with HH of ES, Brazil.

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Mutations in the HFE gene (C282Y, H63D, S65C) in a Brazilian population

Abstract: Hereditary hemochromatosis (HH) is the most common genetic disorder occurring in individuals of northern Rev. bras. hematol. hemoter. 2006;28(4):293-295.

Cited by 13 publications

References 19 publications

HFE gene mutations and iron status of Brazilian blood donors

HFE gene mutations and iron status of Brazilian blood donors

Frequency of the S65C mutation in the hemochromatosis gene in Brazil

Molecular epidemiology of HFE gene polymorphic variants (C282Y, H63D and S65C) in the population of Espírito Santo, Brazil

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