Prevalence of Three Hereditary Hemochromatosis Mutant Alleles in the Michigan Caucasian Population

Barry, Elizabeth L.; Derhammer, Teresa; Elsea, Sarah H.

doi:10.1159/000086760

Cited by 16 publications

(14 citation statements)

References 69 publications

(81 reference statements)

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“…Although our sample population was not sufficiently large to provide adequate power to estimate the prevalence of homozygous HFE genotypes within racial subgroups, we were able to estimate the prevalence of homozygosity for the C282Y and H63D mutations in the combined population of 3989 California newborns. The respective C282Y and H63D allele frequencies of 5.5 and 13.4% found in our sample of White newborns reflect those previously reported in other U.S. non-Hispanic Caucasian populations [18,19,[28][29][30], as well as those recently published in a cohort of non-Hispanic Caucasian newborns in Michigan [31]. Despite similar HFE allele frequencies in these two populations of White newborns, the estimated prevalence of C282Y homozygotes was higher in the Michigan population of newborns (0.45%).…”

Section: Discussionsupporting

confidence: 91%

Prevalence of Hfe Mutations in California Newborns

Hoppe

Watson

Long

et al. 2006

Pediatric Hematology and Oncology

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Advances in molecular diagnostics have led to an increased interest in expanding population-based screening to include genetic diseases that occur outside the newborn period. Hereditary hemochromatosis may be a candidate for large-scale screening in populations with a high prevalence of the common HFE mutations. To determine race-specific frequencies of the HFE mutations, C282Y and H63D, the authors applied an automated, high-throughput genotyping method to dried blood spot samples from a representative population of California newborns. In this sample of 3989 newborns, C282Y and H63D allele frequencies were highest in white (C282Y: 5.5 +/- 0.5%; H63D: 13.4 +/- 0.76%) and Hispanic (C282Y: 1.8 +/- 0.29%; H63D: 11.9 +/- 0.72%) newborns, and lowest in black (C282Y: 1.3 +/- 0.25%; H63D: 3.0 +/- 0.38%) and Asian (C282Y 0.5 +/- 0.16%; H63D 2.9 +/- 0.37%) newborns. The estimated prevalence of C282Y homozygotes in this multiracial population is 1.4/1000. As additional genetic and environmental risk factors for HHC are identified, neonatal screening may become an acceptable strategy to follow susceptible individuals and prevent clinical disease.

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Section: Discussionsupporting

confidence: 91%

Prevalence of Hfe Mutations in California Newborns

Hoppe

Watson

Long

et al. 2006

Pediatric Hematology and Oncology

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“…The C282Y mutation is present in 21 (15.2%) of the superdonors, slightly more than the reported 10 to 12 percent prevalence for the general Caucasian population. [9][10][11] This increase did not reach significance. None of the superdonors were homozygous for C282Y.…”

Section: The Hfe H63d Mutation Is Associated With Decreased Hepcidin mentioning

confidence: 74%

“…The H63D mutation is present in 31 (20.3%) superdonors, slightly less than the reported 24 percent prevalence for the general population. [9][10][11] Three of the 31 are homozygous for H63D and 3 are double heterozygous for the two mutations. Superdonors heterozygous for the H63D mutation had a significant reduction in hepcidin : ferritin ratio when compared to those without the mutation (p = 0.011; Fig.…”

Section: The Hfe H63d Mutation Is Associated With Decreased Hepcidin mentioning

confidence: 99%

Behavioral, biochemical, and genetic analysis of iron metabolism in high‐intensity blood donors

et al. 2008

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Iron deficiency (ferritin level, <30 microg/L) is present in more than 60 percent of superdonors. Behaviors altering iron status included casual use of iron supplements in males, but not in females, and cigarette smoking that produced increased Hct associated with decreased ferritin. The striking biochemical characteristic of superdonors is greatly decreased serum hepcidin, consistent with their need to absorb maximal amounts of dietary iron to replace that lost from blood donation. GDF15 is normal in most superdonors, indicating that GDF15 overexpression arising from the expanded erythroid pool necessary to replace donated red cells is not the biochemical mechanism for the decreased serum hepcidin. Mutations in JAK-2 were not found, indicating that undiagnosed polycythemia vera is not a common cause for successful repeated blood donation by superdonors. Mutations in HFE associated with hemochromatosis were present in superdonors at the same frequency as the normal population. However, superdonors heterozygous for the H63D mutation in HFE had significantly decreased hepcidin : ferritin ratios demonstrating for the first time that the heterozygous state for HFE mutations is associated with alterations in hepcidin expression.

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“…Both mutations are more common in Caucasian patients. BARRY et al (6) , in a population based study, evaluated the prevalence of HFE mutations in newborns and noted that 30% of them carried a mutation in the gene and that 6% had two mutations. OLYNYK et al (28) , in another population based study, observed heterozygozity of C282Y mutation in 14.1% of cases.…”

Section: Discussionmentioning

confidence: 99%

Prevalence of the hemochromatosis gene mutation in patients with nonalcoholic steatohepatitis and correlation with degree of liver fibrosis

Zamin

Mattos

et al. 2006

Arq. Gastroenterol.

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-Background -Nonalcoholic steatohepatitis is a chronic liver disease with a high prevalence in the general population and a potential to evolve into cirrhosis. It is speculated that iron overload could be associated with liver injury and unfavorable progress in affected patients. Aims -To evaluate the prevalence of mutation of the hemochromatosis gene (HFE) in patients with nonalcoholic steatohepatitis and to correlate it with histological fi ndings in liver specimens. Patients and Methods -Twenty-nine patients with nonalcoholic steatohepatitis were evaluated. The presence of mutation in the hemochromatosis gene (C282Y and H63D) was tested in all patients and its result was evaluated in relation to hepatic infl ammatory activity, presence of fi brosis, and iron overload in the liver. The control group was composed of 20 patients with normal liver function tests and 20 patients infected with the hepatitis C virus, with elevated serum levels of aminotransferases and with chronic hepatitis as shown by biopsy. Results -Mutation of the hemochromatosis gene (C282Y and/or H63D) was diagnosed in 16 (55.2%) patients with nonalcoholic steatohepatitis, in 12 (60%) patients with hepatitis C and in 8 (40%) patients with no liver disease. No association was found between the presence of mutation and infl ammatory activity, nor with the presence of fi brosis in patients with nonalcoholic steatohepatitis. An association was found between the presence of mutation and the occurrence of iron overload in liver, but there was no association between liver iron and the occurrence of fi brosis. Conclusions -The fi ndings suggest that iron does not play a major role in the pathogenesis and progression of nonalcoholic steatohepatitis, and routine tests of the hemochromatosis gene mutation in these patients should not be recommended. HEADINGS -Hemochromatosis. Fatty liver. Liver cirrhosis.

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Prevalence of Three Hereditary Hemochromatosis Mutant Alleles in the Michigan Caucasian Population

Cited by 16 publications

References 69 publications

Prevalence of Hfe Mutations in California Newborns

Prevalence of Hfe Mutations in California Newborns

Behavioral, biochemical, and genetic analysis of iron metabolism in high‐intensity blood donors

Prevalence of the hemochromatosis gene mutation in patients with nonalcoholic steatohepatitis and correlation with degree of liver fibrosis

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