ArticleCanadian journal of gastroenterology & hepatology2014
Iron overload is rare in patients homozygous for the H63D mutation.
Article in Canadian journal of gastroenterology & hepatology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).European journal of human genetics : EJHG · 2016Guideline
- Synergistic Contribution of HFE H63D Mutation to Secondary Polycythemia Pathogenesis at Moderate-High Altitude: A Retrospective Cohort Study.Diagnostics (Basel, Switzerland) · 2026Article
- Impaired iron balance and erythrocytosis: a complex relationship.Blood cancer journal · 2026Review
- Isolated Non-Progressive Hemidystonia in a Patient Homozygous for H63D Variant of Hereditary Hemochromatosis: A Case Report and Systematic Literature Review of Movement Disorders in Hereditary Hemochromatosis.Diagnostics (Basel, Switzerland) · 2025Article
- Article
- A rare case of porphyria cutanea tarda in a patient with a homozygous hereditary hemochromatosis gene H63D mutation in the setting of hereditary hemochromatosis.JAAD case reports · 2024Article
- Article
- Early Onset of Wilson's Disease and Possible Role of Disease-Modifying Genes: A Case Report and Literature Review.Case reports in hepatology · 2024Article
- H63D Homozygous Mutation: An Unusual Cause of Deranged Liver Function Test in an Elderly Patient.Cureus · 2022Article
- C282Y/H63D Compound Heterozygosity Is a Low Penetrance Genotype for Iron Overload-related Disease.Journal of the Canadian Association of Gastroenterology · 2022Article
- Elevated transferrin saturation in individuals with alcohol use disorder: Association with HFE polymorphism and alcohol withdrawal severity.Addiction biology · 2022Article
- A Case of Delayed Hepatic Injury Associated with Teriflunomide Use as Assessed for Causality Using the Updated RUCAM.Case reports in hepatology · 2022Article
- Significance of Hereditary Hemochromatosis Gene (HFE) Mutations in Chronic Hepatitis C and Hepatocellular Carcinoma Patients in Egypt: A Pilot Study.Asian Pacific journal of cancer prevention : APJCP · 2021Article
- HFE H63D Limits Nigral Vulnerability to Paraquat in Agricultural Workers.Toxicological sciences : an official journal of the Society of Toxicology · 2021Article
- 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
- Exome sequencing for diagnosis of congenital hemolytic anemia.Orphanet journal of rare diseases · 2020Article
- Metastatic breast cancer presenting as acute liver injury: diagnostic dilemma in the setting of suspected hemochromatosis.Oxford medical case reports · 2020Article
- Diagnosis and Treatment of GeneticGastroenterology research · 2019Review
- Effect of the Hemochromatosis Mutations on Iron Overload among the Indian β Thalassemia Carriers.Journal of clinical laboratory analysis · 2017Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrevious research has suggested that the H63D HFE mutation is associated with elevated iron indexes. However, the true penetrance of this mutation remains unclear.
objectiveTo assess the proportion of H63D homozygotes with laboratory abnormalities consistent with iron overload.
methodsThe present study was a retrospective analysis of all individuals referred for HFE genotyping in Newfoundland and Labrador between 1999 and 2009, who were found to be homozygous for the H63D mutation. Using electronic health records, results of ferritin, transferrin saturation, aspartate aminotransferase and alanine aminotransferase testing performed closest to the time of genetic testing were recorded for each patient. Iron overload was classified using previously published definitions from the HealthIron study. SPSS version 17.0 (IBM Corporation, USA) was used for descriptive statistics and to compare means using one-way ANOVA.
resultsBetween 1999 and 2009, 170 individuals tested positive for H63D⁄H63D. At the time of genotyping, 28.8% had an elevated mean (± SD) ferritin level of 501±829 μg⁄L and 15.9% had an elevated transferrin saturation of 0.45±0.18. At genotyping, 94 individuals had sufficient data available to classify iron overload status. Only three (3.2%) had documented iron overload while the majority (85.1%) had no evidence of iron overload. Sixty individuals had follow-up data available and, of these, only four (6.7%) had documented iron overload, while 45 (75.0%) had no evidence of iron overload. Only one individual had evidence of iron overload-related disease at genotyping and at follow-up.
conclusionsH63D homozygosity was associated with an elevated mean ferritin level, but only 6.7% had documented iron overload at follow-up. The penetrance of the H63D mutation appeared to be low.
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