Expression of the HFE hemochromatosis gene in a community-based population of elderly women

E. Rossi, C. Kuek, John Beilby, Gary Jeffrey, A. Devine, Richard Prince

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Abstract

Background and Aim: Recent studies suggest that the clinical penetrance of associated hereditary hemochromatosis, defined as either the C282Y homozygote or compound heterozygote HFE genotype status, is much lower than previously thought.Methods: We investigated the clinical penetrance and phenotypic expression of HFE-associated hereditary hemochromatosis in a community-based population of 1352 elderly female subjects with a mean age of 75 years. Serum transferrin saturation and ferritin levels were determined on all subjects bearing a C282Y mutation and a subset of wild-type C282Y subjects.Results: The prevalences of the C282Y homozygous and compound heterozygous HFE genotypes were 0.15% (2/1352) and 2.0% (27/1352), respectively. The observed prevalence of 0.15% for C282Y homozygotes borders on significance (P=0.054) for deviation from the Hardy-Weinberg population equilibrium calculations, which predict a prevalence of 0.49%, whereas the observed and predicted compound heterozygote prevalences were not significantly different. Clinical symptoms of hemochromatosis were absent in both the C282Y homozygote subjects. Of the compound heterozygous subjects, 2/27 (7%) had elevated serum transferrin saturation and ferritin values; however, clinical symptoms of hemochromatosis were absent in both. Considered as a whole, the compound heterozygous subjects had markedly elevated means for serum iron (19.4 vs 16.0 mumol/L, P=0.0008), transferrin saturation (34.8% vs 25.2%, P<0.0001) and ferritin (157 vs 92 mug/L, P=0.002) compared with the wild-type subjects.Conclusion: The C282Y homozygous HFE hereditary hemochromatosis genotype was under-represented in this elderly cohort, whereas the compound heterozygous genotype was not. None of the homozygous or compound heterozygous subjects expressed the phenotype of iron overload disease. (C) 2004 Blackwell Publishing Asia Pty Ltd.
Original languageEnglish
Pages (from-to)1150-1154
JournalJournal of Gastroenterology and Hepatology
Volume19
Issue number10
DOIs
Publication statusPublished - 2004

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Hemochromatosis
Homozygote
Transferrin
Ferritins
Genotype
Penetrance
Population
Genes
Heterozygote
Serum
Iron Overload
Iron
Phenotype
Mutation

Cite this

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title = "Expression of the HFE hemochromatosis gene in a community-based population of elderly women",
abstract = "Background and Aim: Recent studies suggest that the clinical penetrance of associated hereditary hemochromatosis, defined as either the C282Y homozygote or compound heterozygote HFE genotype status, is much lower than previously thought.Methods: We investigated the clinical penetrance and phenotypic expression of HFE-associated hereditary hemochromatosis in a community-based population of 1352 elderly female subjects with a mean age of 75 years. Serum transferrin saturation and ferritin levels were determined on all subjects bearing a C282Y mutation and a subset of wild-type C282Y subjects.Results: The prevalences of the C282Y homozygous and compound heterozygous HFE genotypes were 0.15{\%} (2/1352) and 2.0{\%} (27/1352), respectively. The observed prevalence of 0.15{\%} for C282Y homozygotes borders on significance (P=0.054) for deviation from the Hardy-Weinberg population equilibrium calculations, which predict a prevalence of 0.49{\%}, whereas the observed and predicted compound heterozygote prevalences were not significantly different. Clinical symptoms of hemochromatosis were absent in both the C282Y homozygote subjects. Of the compound heterozygous subjects, 2/27 (7{\%}) had elevated serum transferrin saturation and ferritin values; however, clinical symptoms of hemochromatosis were absent in both. Considered as a whole, the compound heterozygous subjects had markedly elevated means for serum iron (19.4 vs 16.0 mumol/L, P=0.0008), transferrin saturation (34.8{\%} vs 25.2{\%}, P<0.0001) and ferritin (157 vs 92 mug/L, P=0.002) compared with the wild-type subjects.Conclusion: The C282Y homozygous HFE hereditary hemochromatosis genotype was under-represented in this elderly cohort, whereas the compound heterozygous genotype was not. None of the homozygous or compound heterozygous subjects expressed the phenotype of iron overload disease. (C) 2004 Blackwell Publishing Asia Pty Ltd.",
author = "E. Rossi and C. Kuek and John Beilby and Gary Jeffrey and A. Devine and Richard Prince",
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pages = "1150--1154",
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Expression of the HFE hemochromatosis gene in a community-based population of elderly women. / Rossi, E.; Kuek, C.; Beilby, John; Jeffrey, Gary; Devine, A.; Prince, Richard.

In: Journal of Gastroenterology and Hepatology, Vol. 19, No. 10, 2004, p. 1150-1154.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Expression of the HFE hemochromatosis gene in a community-based population of elderly women

AU - Rossi, E.

AU - Kuek, C.

AU - Beilby, John

AU - Jeffrey, Gary

AU - Devine, A.

AU - Prince, Richard

PY - 2004

Y1 - 2004

N2 - Background and Aim: Recent studies suggest that the clinical penetrance of associated hereditary hemochromatosis, defined as either the C282Y homozygote or compound heterozygote HFE genotype status, is much lower than previously thought.Methods: We investigated the clinical penetrance and phenotypic expression of HFE-associated hereditary hemochromatosis in a community-based population of 1352 elderly female subjects with a mean age of 75 years. Serum transferrin saturation and ferritin levels were determined on all subjects bearing a C282Y mutation and a subset of wild-type C282Y subjects.Results: The prevalences of the C282Y homozygous and compound heterozygous HFE genotypes were 0.15% (2/1352) and 2.0% (27/1352), respectively. The observed prevalence of 0.15% for C282Y homozygotes borders on significance (P=0.054) for deviation from the Hardy-Weinberg population equilibrium calculations, which predict a prevalence of 0.49%, whereas the observed and predicted compound heterozygote prevalences were not significantly different. Clinical symptoms of hemochromatosis were absent in both the C282Y homozygote subjects. Of the compound heterozygous subjects, 2/27 (7%) had elevated serum transferrin saturation and ferritin values; however, clinical symptoms of hemochromatosis were absent in both. Considered as a whole, the compound heterozygous subjects had markedly elevated means for serum iron (19.4 vs 16.0 mumol/L, P=0.0008), transferrin saturation (34.8% vs 25.2%, P<0.0001) and ferritin (157 vs 92 mug/L, P=0.002) compared with the wild-type subjects.Conclusion: The C282Y homozygous HFE hereditary hemochromatosis genotype was under-represented in this elderly cohort, whereas the compound heterozygous genotype was not. None of the homozygous or compound heterozygous subjects expressed the phenotype of iron overload disease. (C) 2004 Blackwell Publishing Asia Pty Ltd.

AB - Background and Aim: Recent studies suggest that the clinical penetrance of associated hereditary hemochromatosis, defined as either the C282Y homozygote or compound heterozygote HFE genotype status, is much lower than previously thought.Methods: We investigated the clinical penetrance and phenotypic expression of HFE-associated hereditary hemochromatosis in a community-based population of 1352 elderly female subjects with a mean age of 75 years. Serum transferrin saturation and ferritin levels were determined on all subjects bearing a C282Y mutation and a subset of wild-type C282Y subjects.Results: The prevalences of the C282Y homozygous and compound heterozygous HFE genotypes were 0.15% (2/1352) and 2.0% (27/1352), respectively. The observed prevalence of 0.15% for C282Y homozygotes borders on significance (P=0.054) for deviation from the Hardy-Weinberg population equilibrium calculations, which predict a prevalence of 0.49%, whereas the observed and predicted compound heterozygote prevalences were not significantly different. Clinical symptoms of hemochromatosis were absent in both the C282Y homozygote subjects. Of the compound heterozygous subjects, 2/27 (7%) had elevated serum transferrin saturation and ferritin values; however, clinical symptoms of hemochromatosis were absent in both. Considered as a whole, the compound heterozygous subjects had markedly elevated means for serum iron (19.4 vs 16.0 mumol/L, P=0.0008), transferrin saturation (34.8% vs 25.2%, P<0.0001) and ferritin (157 vs 92 mug/L, P=0.002) compared with the wild-type subjects.Conclusion: The C282Y homozygous HFE hereditary hemochromatosis genotype was under-represented in this elderly cohort, whereas the compound heterozygous genotype was not. None of the homozygous or compound heterozygous subjects expressed the phenotype of iron overload disease. (C) 2004 Blackwell Publishing Asia Pty Ltd.

U2 - 10.1111/j.1440-1746.2004.03436.x

DO - 10.1111/j.1440-1746.2004.03436.x

M3 - Article

VL - 19

SP - 1150

EP - 1154

JO - Journal of Gastroenterology and Hepatology (Australia)

JF - Journal of Gastroenterology and Hepatology (Australia)

SN - 0815-9319

IS - 10

ER -