HFE
HGNC:4886 · SaudiVarKB evidence summary derived from retained literature mentions.
15Gene mentions
15Publications
9Linked variants
6Associated phenotypes
Associated phenotypes
Co-mentioned in HFE publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| diabetes mellitus | — | 2 | 2 |
| thalassemia | HP:0001878 | 2 | 2 |
| hepatocellular carcinoma | — | 2 | 2 |
| cardiomyopathy | HP:0001638 | 1 | 1 |
| COVID-19 | — | 1 | 1 |
| SARS | — | 1 | 1 |
Linked variants
Variants normalized to HFEPopulation context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | — | 2 |
| Not specified | — | 2 | 2 |
| Asir | — | — | 1 |
| Not specified | — | 204 | 1 |
| Saudi Arabia | — | 95 | 1 |
| Saudi Arabia · Tabuk | — | 19 | 1 |
| Not specified | — | 2,329 | 1 |
| Not specified | — | 560 | 1 |
Supporting publications
15 records- 2026Homozygous TFR2 (c.2093_2096del) Mutation in an Asymptomatic Patient With Type 3 Hereditary Hemochromatosis, First Report From Saudi Arabia.Clinical case reportsPubMed ↗
- 2024Whole-Exome Sequencing Detecting a Recurrent Pathogenic Mutation, HFE p.His63Asp (H63D) in COVID-19 Patients and Its Effect on Mortality.Discovery medicinePubMed ↗
- 2023Association between Polymorphisms of Hemochromatosis (HFE), Blood Lead (Pb) Levels, and DNA Oxidative Damage in Battery Workers.International journal of environmental research and public healthPubMed ↗
- 2022Molecular Screening via Sanger Sequencing of the Genetic Variants in Non-Alcoholic Fatty Liver Disease Subjects in the Saudi Population: A Hospital-Based Study.MetabolitesPubMed ↗
- 2021Molecular analysis of homeostatic iron regulator, transmembrane protease serine-6, and BTB domain-containing protein-9 variants and iron parameters in blood donors.Bioscience reportsPubMed ↗
- 2021Impact of low-frequency coding variants on human facial shape.Scientific reportsPubMed ↗
- 2021Juvenile Hemochromatosis: Rheumatic Manifestations of 2 Sisters Responding to Deferasirox Treatment. A Case Series and Literature Review.Open access rheumatology : research and reviewsPubMed ↗
- 2019Association of frequency of hereditary hemochromatosis (HFE) gene mutations (H63D and C282Y) with iron overload in beta-thalassemia major patients in Pakistan.Saudi medical journalPubMed ↗
- 2019Comment on: Hemochromatosis (HFE) gene mutations (H63D and C282Y) and iron overload in beta-thalassemia major.Saudi medical journalPubMed ↗
- 2017Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV gene.European journal of medical geneticsPubMed ↗
- 2013Correlation of hemochromatosis gene mutations and cardiovascular disease in hemodialysis patients.Annals of Saudi medicinePubMed ↗
- 2011Hereditary hemochromatosis of tongue.Oral surgery, oral medicine, oral pathology, oral radiology, and endodonticsPubMed ↗
- 2009Hemochromatosis and Vibrio vulnificus wound infections.Journal of clinical gastroenterologyPubMed ↗
- 2008Hemochromatosis gene (HFE) mutations in patients with type 2 diabetes and their control group in an Iranian population.Saudi medical journalPubMed ↗
- 2006Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study.BMC medical geneticsPubMed ↗