ArticleDigestive diseases and sciences2006
Individuals homozygous for the H63D mutation have significantly elevated iron indexes.
Article in Digestive diseases and sciences, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Hemochromatosis gene and nonalcoholic fatty liver disease: a systematic review and meta-analysis.Journal of hepatology · 2011Pooled it
- C282Y/H63D Compound Heterozygosity Is a Low Penetrance Genotype for Iron Overload-related Disease.Journal of the Canadian Association of Gastroenterology · 2022Article
- Clinical Penetrance of Hereditary Hemochromatosis-Related End-Organ Damage of C282Y Homozygosity, A Newfoundland Experience.Clinical and translational gastroenterology · 2020Article
- Transient elevation of serum ferritin in a Sri Lankan with homozygosity for H63D mutation in the HFE gene: a case report.Journal of medical case reports · 2020Article
- Genetic variant coding for iron regulatory protein HFE contributes to hypertension, the TAMRISK study.Medicine · 2015Article
- Evaluation of a 7-Gene Genetic Profile for Athletic Endurance Phenotype in Ironman Championship Triathletes.PloS one · 2015Article
- Iron overload is rare in patients homozygous for the H63D mutation.Canadian journal of gastroenterology & hepatology · 2014Article
- Duodenal expression of iron transport molecules in patients with hereditary hemochromatosis or iron deficiency.Journal of cellular and molecular medicine · 2012Article
- HFE gene mutations, serum ferritin level, transferrin saturation, and their clinical correlates in a Korean population.Digestive diseases and sciences · 2009Article
- Iron homeostasis and H63D mutations in alcoholics with and without liver disease.World journal of gastroenterology · 2009Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Our objective was to assess the iron indexes of patients with one or more mutations of the HFE gene with a specific interest in studying the effect of the H63D/H63D genotype. Eight hundred twenty subjects who underwent HFE mutational testing for C282Y and H63D mutations were retrospectively identified. Data collected included age, gender, HFE genotype, and values for serum ferritin, iron saturation, aspartate aminotransferase (AST), and alanine aminotransferase (ALT). Compared to the Wild/Wild genotype (0.34 +/- 0.17), genotypes H63D/C282Y (0.44 +/- 0.14 P < 0.01), H63D/H63D (0.51 +/- 0.21 P < 0.01), and C282Y/C282Y (0.64 +/- 0.20 P < 0.01) had significantly higher transferrin saturation levels and were independent predictors of higher iron saturation in multivariate regression analysis. Compared to the Wild/Wild genotype, no abnormal HFE genotypes had significantly higher ferritin levels, although the genotype H63D/H63D was an independent predictor of higher serum ferritin (P = 0.02) in regression analysis. There was no significant difference in the proportion of patients with abnormally elevated AST (P = 0.64) or ALT (P = 0.80) between groups. H63D homozygotes have elevated transferrin saturation compared to the Wild genotype, comparable to that of C282Y homozygotes and compound heterozygotes. The clinical significance of this finding is unclear but warrants further study.
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