ReviewInternational journal of molecular sciences2012
Molecular diagnostic and pathogenesis of hereditary hemochromatosis.
Review in International journal of molecular sciences, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 96 citations in OpenAlex.
- Mutations in the HFE gene and sporadic amyotrophic lateral sclerosis risk: a meta-analysis of observational studies.Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica · 2014Pooled it
- Iron Dysregulation and Vascular Diseases: A Contemporary Review.Journal of the American Heart Association · 2026Review
- Haemochromatosis revisited.World journal of hepatology · 2022Review
- Role of Iron in Aging Related Diseases.Antioxidants (Basel, Switzerland) · 2022Article
- Article
- Appropriate Clinical Genetic Testing of Hemochromatosis Type 2-4, Including Ferroportin Disease.The application of clinical genetics · 2021Review
- Extrahepatic deficiency of transferrin receptor 2 is associated with increased erythropoiesis independent of iron overload.The Journal of biological chemistry · 2020Article
- Article
- Quality of life scores differs between genotypic groups of patients with suspected hereditary hemochromatosis.BMC medical genetics · 2018Article
- Autopsy relevance determining hemochromatosis: Case report.Medicine · 2017Article
- Juvenile hemochromatosis:World journal of clinical cases · 2017Article
- Increased Retinal Expression of the Pro-Angiogenic Receptor GPR91 via BMP6 in a Mouse Model of Juvenile Hemochromatosis.Investigative ophthalmology & visual science · 2016Article
- Variation in an Iron Metabolism Gene Moderates the Association Between Blood Lead Levels and Attention-Deficit/Hyperactivity Disorder in Children.Psychological science · 2016Article
- Variables Related to Iron Status and Genetic Background Among Korean Populations: Ironing Out the Differences.Digestive diseases and sciences · 2015Article
- Exome sequencing for molecular characterization of non-HFE hereditary hemochromatosis.Blood cells, molecules & diseases · 2015Article
- Observational
- Article
- Invariant Natural Killer T Cells are Reduced in Hereditary Hemochromatosis Patients.Journal of clinical immunology · 2015Article
- Taurine supplementation reduces oxidative stress and protects the liver in an iron-overload murine model.Molecular medicine reports · 2014Article
- Extracellular matrix and liver disease.Antioxidants & redox signaling · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary hemochromatosis (HH) is an autosomal recessive disorder characterized by enhanced intestinal absorption of dietary iron. Without therapeutic intervention, iron overload leads to multiple organ damage such as liver cirrhosis, cardiomyopathy, diabetes, arthritis, hypogonadism and skin pigmentation. Most HH patients carry HFE mutant genotypes: homozygosity for p.Cys282Tyr or p.Cys282Tyr/p.His63Asp compound heterozygosity. In addition to HFE gene, mutations in the genes that encode hemojuvelin (HJV), hepcidin (HAMP), transferrin receptor 2 (TFR2) and ferroportin (SLC40A1) have been associated with regulation of iron homeostasis and development of HH. The aim of this review was to identify the main gene mutations involved in the pathogenesis of type 1, 2, 3 and 4 HH and their genetic testing indication. HFE testing for the two main mutations (p.Cys282Tyr and p.His63Asp) should be performed in all patients with primary iron overload and unexplained increased transferrin saturation and/or serum ferritin values. The evaluation of the HJV p.Gly320Val mutation must be the molecular test of choice in suspected patients with juvenile hemochromatosis with less than 30 years and cardiac or endocrine manifestations. In conclusion, HH is an example that genetic testing can, in addition to performing the differential diagnostic with secondary iron overload, lead to more adequate and faster treatment.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.