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

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

Blood cells, molecules & diseases - 1 Jan 2000

Radio Francesca Clementina, Majore Silvia, Binni Francesco, Valiante Michele, Ricerca Bianca Maria, De Bernardo Carmelilia, Morrone Aldo, Grammatico Paola

Abstract excerpt

OBJECTIVE: Hereditary hemochromatosis (HH) is a common Mendelian disorder of iron metabolism. Eighty percent of northern Europeans descendant HH patients carry the same mutation (p.C282Y) in the HFE gene. Simultaneously, due to a founder effect, its frequency varies considerably between different populations. In Central-Southern Italy the prevalence of p.C282Y mutation is low and in several patients the disease...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Base Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Hemochromatosis

Share to Iron Overload

Share to Receptors, Transferrin

Source

Identifiers

PMID: 24055163
DOI: 10.1016/j.bcmd.2013.08.003

Genes

TFR2
HFE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy.PMID 24055163Read ↗

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

Mutations of the hemochromatosis gene in Italian candidate blood donors with increased transferrin saturation.Semantic proximity Read ↗

Early-onset haemochromatosis caused by a novel combination of TFR2 mutations(p.R396X/c.1538-2 A>G) in a woman of Italian descent.Semantic proximity Read ↗

Frequency and biochemical expression of C282Y/H63D hemochromatosis (HFE) gene mutations in the healthy adult population in Italy.Semantic proximity Read ↗

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

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

HFE and Non-HFE Hereditary Hemochromatosis Based on Screening of 854 Individuals: 12 Years of an Iranian Experience.Semantic proximity Read ↗

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

Iranian hereditary hemochromatosis patients: baseline characteristics, laboratory data and gene mutations.Semantic proximity Read ↗

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

High prevalence of a screening-detected, HFE-unrelated, mild idiopathic iron overload in Northern Italy.Semantic proximity Read ↗

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