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

Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes.

Annals of hematology - 1 Mar 2009

Mendes Ana Isabel, Ferro Ana, Martins Rute, Picanço Isabel, Gomes Susana, Cerqueira Rute, Correia Manuel, Nunes António Robalo, Esteves Jorge, Fleming Rita, Faustino Paula

Abstract excerpt

The most frequent genotype associated with Hereditary hemochromatosis is the homozygosity for C282Y, a common HFE mutation. However, other mutations in HFE, transferrin receptor 2 (TFR2), hemojuvelin (HJV) and hepcidin (HAMP) genes, have also been reported in association with this pathology. A mutational analysis of these genes was carried out in 215 Portuguese iron-overloaded individuals previously characterized...

Read the complete abstract on PubMed

Topics

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

Share to Hemochromatosis
Share to Hemochromatosis Protein

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

Share to Histocompatibility Antigens Class I

Share to Iron Metabolism Disorders

Share to Iron Overload

Share to Portugal

Share to Receptors, Transferrin

Share to Sequence Homology, Amino Acid

Source

Identifiers

PMID: 18762941
DOI: 10.1007/s00277-008-0572-y

Genes

HFE
HAMP
HJV
TFR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 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

Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes.PMID 18762941Read ↗

Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients.Semantic proximity Read ↗

Hemojuvelin and hepcidin genes sequencing in Brazilian patients with primary iron overload.Semantic proximity Read ↗

Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population.Semantic proximity Read ↗

Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis.Semantic proximity Read ↗

Comparing the types of haemochromatosis- from genetics to clinics.Semantic proximity Read ↗

Non-HFE hemochromatosis: pathophysiological and diagnostic aspects.Semantic proximity Read ↗

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

Molecular Diagnostic and Pathogenesis of Hereditary HemochromatosisSemantic proximity Read ↗

Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation.Semantic proximity Read ↗

Juvenile hemochromatosis associated with heterozygosity for novel hemojuvelin mutations and with unknown cofactors.Semantic proximity Read ↗

Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload.Semantic proximity Read ↗

TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy.Semantic proximity Read ↗

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