ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 2 of them syntheses that pooled it.
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Who cites it
37 citing papers in PubMed, 2 syntheses or guidelines pooled it, 96 citations in OpenAlex.
- Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.Orphanet journal of rare diseases · 2019Pooled it
- The global prevalence of Wilson disease from next-generation sequencing data.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Pooled it
- Ferroportin at the Crossroads of Iron Biology: Disease, Regulation and Modulation.Biomolecules · 2026Review
- Hemojuvelin-Associated Juvenile Hemochromatosis: Fulminant Heart Failure, Complete Heart Block, and Ventricular Arrhythmias.JACC. Case reports · 2026Article
- Hemochromatosis osteoarthritis.Frontiers in endocrinology · 2026Review
- Hemochromatosis and Hepatic Complications: A Comprehensive Review of Molecular Mechanisms, Diagnostics, and Emerging Therapeutics.Current molecular medicine · 2026Review
- Metals in the human liver: An underappreciated risk factor of hepatic insulin resistance and associated pathophysiology.Environmental pollution (Barking, Essex : 1987) · 2025Review
- Article
- Case Report: Secukinumab for the treatment of severe psoriasis in a patient with hereditary hemochromatosis.Frontiers in medicine · 2025Article
- Iron and Liver Disease.Advances in experimental medicine and biology · 2025Review
- Diagnosis and Management of Non-HFE Hemochromatosis, Ferroportin Disease, and Rare Hereditary Iron-Loading Disorders.Advances in experimental medicine and biology · 2025Review
- [A case report of mild hereditary hemochromatosis caused by HAMP gene mutation].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2024Article
- Novel compound heterozygous mutations in theWorld journal of clinical cases · 2024Article
- Eicosanoids and Oxylipin Signature in Hereditary Hemochromatosis Patients Are Similar to Dysmetabolic Iron Overload Syndrome Patients but Are Impacted by Dietary Iron Absorption.Annals of nutrition & metabolism · 2024Article
- [Epidemiological characteristics of familiar adult inherited metabolic liver disease].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2023Review
- Primary Non-HFE Hemochromatosis: A Review.Journal of clinical and translational hepatology · 2023Review
- Relevant Membrane Transport Proteins as Possible Gatekeepers for Effective Pharmacological Ascorbate Treatment in Cancer.Antioxidants (Basel, Switzerland) · 2023Review
- Hereditary Hyperferritinemia.International journal of molecular sciences · 2023Review
- Article
- Noninvasive assessment of hepatic steatosis using a pathologic reference standard: comparison of CT, MRI, and US-based techniques.Ultrasonography (Seoul, Korea) · 2022Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe prevalence of HFE-related hereditary hemochromatosis (HH) among European populations has been well studied. There are no prevalence data for atypical forms of HH caused by mutations in HFE2, HAMP, TFR2, or SLC40A1. The purpose of this study was to estimate the population prevalence of these non-HFE forms of HH.
methodsA list of HH pathogenic variants in publically available next-generation sequence (NGS) databases was compiled and allele frequencies were determined.
resultsOf 161 variants previously associated with HH, 43 were represented among the NGS data sets; an additional 40 unreported functional variants also were identified. The predicted prevalence of HFE HH and the p.Cys282Tyr mutation closely matched previous estimates from similar populations. Of the non-HFE forms of iron overload, TFR2-, HFE2-, and HAMP-related forms are predicted to be rare, with pathogenic allele frequencies in the range of 0.00007 to 0.0005. Significantly, SLC40A1 variants that have been previously associated with autosomal-dominant ferroportin disease were identified in several populations (pathogenic allele frequency 0.0004), being most prevalent among Africans.
conclusionWe have, for the first time, estimated the population prevalence of non-HFE HH. This methodology could be applied to estimate the population prevalence of a wide variety of genetic disorders.Genet Med 18 6, 618-626.
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