Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Revisiting hemochromatosis: genetic vs. phenotypic manifestations

1 Apr 2021

Abstract excerpt

Abstract: Iron overload disorders represent an important class of human diseases. Of the primary iron overload conditions, by far the most common and best studied is HFE-related hemochromatosis, which results from homozygosity for a mutation leading to the C282Y substitution in the HFE protein. This disease is characterized by reduced expression of the iron-regulatory hormone hepcidin, leading to increased...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Hemoglobinopathies and Related Disorders
Share to Iron Metabolism and Disorders
Share to Trace Elements in Health

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 33987429
DOI: 10.21037/atm-20-5512

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 17 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Revisiting hemochromatosis: genetic vs. phenotypic manifestationsPMID 33987429Read ↗

Hemochromatosis: Genetics and PathophysiologySemantic proximity Read ↗

HFE-associated hereditary hemochromatosis: overview of genetics and clinical implications for nurse practitioners in primary care settings.Semantic proximity Read ↗

Hereditary hemochromatosis: insights from the Hemochromatosis and Iron Overload Screening (HEIRS) Study.Semantic proximity Read ↗

Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment.Semantic proximity Read ↗

Genetic predisposition to iron overload: prevalence and phenotypic expression of hemochromatosis-associated HFE-C282Y gene mutation.Semantic proximity Read ↗

Pathophysiology of hereditary hemochromatosis.Semantic proximity Read ↗

Modifying factors of the HFE hemochromatosis phenotype.Semantic proximity Read ↗

Hemochromatosis: advances in molecular genetics and clinical diagnosis.Semantic proximity Read ↗

Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease.Semantic proximity Read ↗

Hereditary hemochromatosis since discovery of the HFE gene.Semantic proximity Read ↗

EASL clinical practice guidelines for HFE hemochromatosis.Semantic proximity Read ↗

Genetic hemochromatosis update.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.