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Your search keyword '"iron overload-related disease"' showing total 3 results
Start Over Descriptor "iron overload-related disease" Publisher escholarship, university of california
3 results on '"iron overload-related disease"'

1. HFE p.C282Y homozygosity predisposes to rapid serum ferritin rise after menopause: A genotype‐stratified cohort study of hemochromatosis in Australian women

Author

Warne, Charles D, Zaloumis, Sophie G, Bertalli, Nadine A, Delatycki, Martin B, Nicoll, Amanda J, McLaren, Christine E, Hopper, John L, Giles, Graham G, Anderson, Greg J, Olynyk, John K, Powell, Lawrie W, Allen, Katrina J, Gurrin, Lyle C, and Investigators, for the HealthIron Study

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Prevention, Liver Disease, Genetics, Aging, Contraception/Reproduction, Hematology, Digestive Diseases, 2.1 Biological and endogenous factors, Aetiology, Adult, Aged, Australia, Cohort Studies, Female, Ferritins, Genetic Predisposition to Disease, Genotype, Hemochromatosis, Hemochromatosis Protein, Homozygote, Humans, Menopause, Middle Aged, Mutation, hereditary hemochromatosis, HFE p, C282Y homozygosity, iron accumulation, iron overload-related disease, menopause, women's health, HealthIron Study Investigators, HFE p.C282Y homozygosity, Gastroenterology & Hepatology, Clinical sciences
Abstract

Background and aimWomen who are homozygous for the p.C282Y mutation in the HFE gene are at much lower risk of iron overload-related disease than p.C282Y homozygous men, presumably because of the iron-depleting effects of menstruation and pregnancy. We used data from a population cohort study to model the impact of menstruation cessation at menopause on serum ferritin (SF) levels in female p.C282Y homozygotes, with p.C282Y/p.H63D simple or compound heterozygotes and those with neither p.C282Y nor p.H63D mutations (HFE wild types) as comparison groups.MethodsA sample of the Melbourne Collaborative Cohort Study was selected for the "HealthIron" study (n = 1438) including all HFE p.C282Y homozygotes plus a random sample stratified by HFE-genotype (p.C282Y and p.H63D). The relationship between the natural logarithm of SF and time since menopause was examined using linear mixed models incorporating spline smoothing.ResultsFor p.C282Y homozygotes, SF increased by a factor of 3.6 (95% CI (1.8, 7.0), P

Published
2017

2. HFE C282Y and H63D simple heterozygosity

Author

Zaloumis, Sophie G, Allen, Katrina J, Bertalli, Nadine A, Turkovic, Lidija, Delatycki, Martin B, Nicoll, Amanda J, McLaren, Christine E, English, Dallas R, Hopper, John L, Giles, Graham G, Anderson, Gregory J, Olynyk, John K, Powell, Lawrie W, Gurrin, Lyle C, and Investigators, HealthIron Study

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Prevention, Liver Disease, Digestive Diseases, Genetics, Hematology, Clinical Research, Chronic Liver Disease and Cirrhosis, Adult, Aged, Cohort Studies, Female, Genotype, Hemochromatosis, Hemochromatosis Protein, Heterozygote, Histocompatibility Antigens Class I, Humans, Iron Overload, Male, Membrane Proteins, Middle Aged, Morbidity, Prospective Studies, Time Factors, hereditary disease, iron overload-related disease, liver disease, serum ferritin, transferrin saturation, HealthIron Study Investigators, Gastroenterology & Hepatology, Clinical sciences
Abstract

Background and aimThe risk of hemochromatosis-related morbidity for HFE simple heterozygosity for either the C282Y or H63D substitutions in the HFE protein was assessed using a prospective community-based cohort study.MethodsHFE genotypes were measured for 31,192 persons of northern European descent, aged between 40 and 69 years when recruited to the Melbourne Collaborative Cohort Study, and subjects were followed for an average of 12 years. For a random sample of 1438 participants stratified according to HFE genotype, two sets of biochemical iron indices performed 12 years apart and, at follow-up only, the presence/absence of six disease features associated with hereditary hemochromatosis were obtained. Summary data for 257 (139 female) C282Y simple heterozygotes and 123 (74 female) H63D simple heterozygotes were compared with 330 (181 female) controls with neither HFE mutation.ResultsAt baseline, mean transferrin saturation (TS) (95% confidence interval) and prevalence of TS > 55% were 35.14% (33.25, 37.04) and 3/112 (3%), 33.03% (29.9, 36.15) and 0/39 (0%), and 29.67% (27.93, 31.4) and 3/135 (2%) for C282Y, H63D and wild-type male participants, respectively. At follow-up, mean TS levels remained similar to baseline levels for both men and women irrespective of simple heterozygosity for either mutation. No HFE C282Y or H63D simple heterozygotes had documented iron overload (based on hepatic iron measures or serum ferritin greater than 1000 mg/L at baseline with documented therapeutic venesection).ConclusionNo documented iron overload was observed for HFE simple heterozygotes for either C282Y or H63D, and morbidity for both HFE simple heterozygote groups was similar to that of HFE wild-type participants.

Published
2015

3. Natural history of HFE simple heterozygosity for C282Y and H63D: a prospective 12-year study

Author

Zaloumis, Sophie G, Allen, Katrina J, Bertalli, Nadine A, Turkovic, Lidija, Delatycki, Martin B, Nicoll, Amanda J, McLaren, Christine E, English, Dallas R, Hopper, John L, Giles, Graham G, Anderson, Gregory J, Olynyk, John K, Powell, Lawrie W, Gurrin, Lyle C, and HealthIron Study Investigators

Subjects
Adult, Male, Heterozygote, Iron Overload, Time Factors, Genotype, Chronic Liver Disease and Cirrhosis, Clinical Sciences, HealthIron Study Investigators, Cohort Studies, transferrin saturation, Clinical Research, Genetics, Humans, Prospective Studies, Hemochromatosis Protein, Aged, Gastroenterology & Hepatology, Prevention, Liver Disease, Histocompatibility Antigens Class I, serum ferritin, Membrane Proteins, Hematology, Middle Aged, hereditary disease, iron overload-related disease, Female, Hemochromatosis, Morbidity, Digestive Diseases
Abstract

Background and aimThe risk of hemochromatosis-related morbidity for HFE simple heterozygosity for either the C282Y or H63D substitutions in the HFE protein was assessed using a prospective community-based cohort study.MethodsHFE genotypes were measured for 31,192 persons of northern European descent, aged between 40 and 69 years when recruited to the Melbourne Collaborative Cohort Study, and subjects were followed for an average of 12 years. For a random sample of 1438 participants stratified according to HFE genotype, two sets of biochemical iron indices performed 12 years apart and, at follow-up only, the presence/absence of six disease features associated with hereditary hemochromatosis were obtained. Summary data for 257 (139 female) C282Y simple heterozygotes and 123 (74 female) H63D simple heterozygotes were compared with 330 (181 female) controls with neither HFE mutation.ResultsAt baseline, mean transferrin saturation (TS) (95% confidence interval) and prevalence of TS > 55% were 35.14% (33.25, 37.04) and 3/112 (3%), 33.03% (29.9, 36.15) and 0/39 (0%), and 29.67% (27.93, 31.4) and 3/135 (2%) for C282Y, H63D and wild-type male participants, respectively. At follow-up, mean TS levels remained similar to baseline levels for both men and women irrespective of simple heterozygosity for either mutation. No HFE C282Y or H63D simple heterozygotes had documented iron overload (based on hepatic iron measures or serum ferritin greater than 1000 mg/L at baseline with documented therapeutic venesection).ConclusionNo documented iron overload was observed for HFE simple heterozygotes for either C282Y or H63D, and morbidity for both HFE simple heterozygote groups was similar to that of HFE wild-type participants.

Published
2015

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