2008
DOI: 10.1590/s1516-84842008000500010
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Prevalence of C282Y and H63D mutations in the HFE gene of Brazilian individuals with clinical suspicion of hereditary hemochromatosis

Abstract: Brazi. Rev. Bras. Hematol. Hemoter. 2008;30(5):379-383.

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Cited by 9 publications
(9 citation statements)
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(54 reference statements)
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“…The homozygous frequencies for the C282Y mutation in both the control group and diabetic group (0%) were smaller than the frequencies observed in Caucasian (0.44%), Hispanic (0.027%) and Black (0.014%) populations (Sampson et al, 2000). For the H63D mutation, the number of homozygous and heterozygous individuals in the two groups studied (Table 1) was also smaller compared to the one reported in Brazilians with clinical suspicion of HH (Ferreira et al, 2008). No significant association could be demonstrated between the presence of the C282Y and H63D mutations and the development of DM2 in Brazilian women, in contrast to the results of other studies (Nelson et al, 1995;Kwan et al, 1998).…”
Section: Discussionmentioning
confidence: 57%
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“…The homozygous frequencies for the C282Y mutation in both the control group and diabetic group (0%) were smaller than the frequencies observed in Caucasian (0.44%), Hispanic (0.027%) and Black (0.014%) populations (Sampson et al, 2000). For the H63D mutation, the number of homozygous and heterozygous individuals in the two groups studied (Table 1) was also smaller compared to the one reported in Brazilians with clinical suspicion of HH (Ferreira et al, 2008). No significant association could be demonstrated between the presence of the C282Y and H63D mutations and the development of DM2 in Brazilian women, in contrast to the results of other studies (Nelson et al, 1995;Kwan et al, 1998).…”
Section: Discussionmentioning
confidence: 57%
“…Few studies have been carried out in Brazil to determine the frequency of these mutations in individuals with clinical suspicion of HH. Ferreira et al (2008Ferreira et al ( ), evaluating 1955 Brazilian individuals with clinical suspicion of HH, observed that the C282Y mutation was present in homozygosity in only 2.9% and in heterozygosity in 10.1% of the subjects. The H63D mutation was found in 4.3% of the patients in homozygosity and 30.6% in heterozygosity.…”
Section: Introductionmentioning
confidence: 99%
“…Hereditary hemochromatosis (HH) is a recessive autosomal disease characterized by iron overload in the body, with a progressive accumulation of this metal in some tissues, which may lead to structural and functional damage of organs such as the heart, liver, and pancreas, as well as occasional inflammatory and oxidative processes (Ferreira et al, 2008). The clinical manifestations generally appear between 40 and 60 years of age and occur predominately in men, because the menstrual cycle and pregnancy function has a physiological control system in women (Ferreira et al, 2008).…”
Section: Introductionmentioning
confidence: 99%
“…The clinical manifestations generally appear between 40 and 60 years of age and occur predominately in men, because the menstrual cycle and pregnancy function has a physiological control system in women (Ferreira et al, 2008). HH is most common among populations of Northern European ancestry.…”
Section: Introductionmentioning
confidence: 99%
“…C282Y and H63D mutations are known as the main ones responsible for HH (Guerreiro et al, 2006;Ferreira et al, 2008). S65C mutation, recently found to be related to milder HH, comes from an amino acid conversion of serine (S) to cysteine (C) at position 65, due to an adenine (A) to thymine (T) transversion at position 193 of the HFE gene (Oliveira et al, 2006).…”
Section: Introductionmentioning
confidence: 99%