Frequencies of the haemochromatosis gene (HFE) variants C282Y, H63D and S65C in 6,020 ethnic Danish men

Pedersen, Palle; Melsen, Gitte Vedel; Milman, Nils

doi:10.1007/s00277-008-0506-8

Cited by 25 publications

(23 citation statements)

References 39 publications

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“…This study had a limited sample size and low frequency of this mutation affects benchmarks that allow more detailed conclusions. Similar data are also reported on the international scene because, for example, in China and South Korea, there is no indication of the presence of the mutant S65C allele (Lin et al, 2007;Lee et al, 2009); in Venezuela, the allelic frequency is 0.009 (Vizzi et al, 2005), while individuals with hemochromatosis in Denmark and Spain were found to have respectively allelic frequencies of 0.018 and 0.02 (de Diego et al, 2004;Pedersen et al, 2008 Table 2. Genotypic and allelic frequencies for S65C mutation, according to gender.…”

Section: Discussionsupporting

confidence: 75%

“…Due to menstruation and pregnancy, HH occurs 2 to 4 times more in men than in women (Limdi and Crampton, 2004;US Preventive Services Task Force, 2006). Generally, HH appears between 40 to 60 years old, an age at which there is an excess of 20 to 40 g iron, accumulated slowly in the body throughout life (Pedersen et al, 2008), where the fifth decade is the most common age for the main signs and symptoms in women (US Preventive Services Task Force, 2006).…”

Section: Introductionmentioning

confidence: 99%

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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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Section: Discussionsupporting

confidence: 75%

Section: Introductionmentioning

confidence: 99%

Frequency of the S65C mutation in the hemochromatosis gene in Brazil

Oliveira¹,

Caxito²,

Gomes³

et al. 2009

Genet. Mol. Res.

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“…With the advent of genetic testing, it became clear that the mutation leading to the C282Y substitution is a commonly inherited trait in those of northern European extraction [39]. Most C282Y homozygote males will develop biochemical indices of iron loading [36,37,[40][41][42][43], but often this is not enough to lead to disease without comorbid factors [40] (Fig. 2).…”

Section: Penetrancementioning

confidence: 97%

The global burden of iron overload

2009

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There have been major developments in the field of iron metabolism in the past decade following the identification of the HFE gene and the mutation responsible for the C282Y substitution in the HFE protein. While HFE-associated hemochromatosis occurs predominantly in people of northern European extraction, other less-common mutations can lead to the same clinical syndrome and these may occur in other populations in the Asian-Pacific region. The most common of these is the mutation that leads to changes in the ferroportin molecule, the protein responsible for the transport of iron across the basolateral membrane of the enterocyte and from macrophages. Recent research has unraveled the molecular processes of iron transport and regulation of how these are disturbed in hemochromatosis and other iron-loading disorders. At the same time, at least one new oral iron chelating agent has been developed that shows promise in the therapy of hemochromatosis as well as thalassemia and other secondary causes of iron overload. It is pertinent therefore to examine the developments in the global field of iron overload that have provided insights into the pathogenesis, disease penetrance, comorbid factors, and management.

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“…Furthermore, iron overload disorders, i.e. HFE-related hemochromatosis, are the most frequent inherited disorders in subjects of northern European descent [26], and non-HFE-related hemochromatosis [27] is frequent in the Mediterranean.…”

Section: Strategies To Ensure An Adequate Iron Supply For Pregnant Womenmentioning

confidence: 99%

Iron in Pregnancy – How Do We Secure an Appropriate Iron Status in the Mother and Child?

Milman

2011

Ann Nutr Metab

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Iron deficiency and iron deficiency anemia (IDA) during pregnancy are risk factors for preterm delivery, prematurity, and small for gestational age birth weight. Iron deficiency has a negative effect on intelligence and behavioral development in the infant. It is essential to prevent iron deficiency in the fetus by preventing iron deficiency in the pregnant woman. The requirements for absorbed iron increase during pregnancy from ∼1.0 mg/day in the first trimester to 7.5 mg/day in the third trimester. More than 90% of Scandinavian women of reproductive age have a dietary iron intake below the recommended 15 mg/day. Among nonpregnant women of reproductive age, ∼40% have plasma ferritin ≤30 µg/l, i.e. an unfavorable iron status with respect to pregnancy. An adequate iron status during pregnancy implies body iron reserves ≧500 mg at conception, but only 15–20% of women have iron reserves of such a magnitude. Iron supplements during pregnancy reduce the prevalence of IDA. In Europe, IDA can be prevented by a general low-dose iron prophylaxis of 30–40 mg ferrous iron taken between meals from early pregnancy to delivery. In affluent societies, individual iron prophylaxis tailored by the ferritin concentration should be preferred to general prophylaxis. Suggested guidelines are: ferritin >70 µg/l, no iron supplements; ferritin 31–70 µg/l, 30–40 mg ferrous iron per day, and ferritin ≤30 µg/l, 60–80 mg ferrous iron per day. In women with ferritin <15 µg/l, i.e. depleted iron reserves and possible IDA, therapeutic doses of 100 mg ferrous iron per day should be advised.

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Frequencies of the haemochromatosis gene (HFE) variants C282Y, H63D and S65C in 6,020 ethnic Danish men

Cited by 25 publications

References 39 publications

Frequency of the S65C mutation in the hemochromatosis gene in Brazil

Frequency of the S65C mutation in the hemochromatosis gene in Brazil

The global burden of iron overload

Iron in Pregnancy – How Do We Secure an Appropriate Iron Status in the Mother and Child?

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