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

Prevalence of H63D, S65C, and C282Y hereditary hemochromatosis gene variants in Madeira Island (Portugal).

Annals of hematology - 1 Jan 2011

Spínola Carla, Brehm António, Spínola Hélder

Abstract excerpt

Hereditary HFE Hemochromatosis is an inherited disorder of iron metabolism that results from mutations in the HFE gene. Almost all patients with hereditary hemochromatosis show a C282Y mutation in homozygosity or in compound heterozygosity with H63D. Also, the mutation S65C has been shown to be a...

Read the complete abstract on PubMed

Topics

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

Share to Aspartic Acid
Share to Cysteine
Share to Hemochromatosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hemochromatosis Protein

Share to Histidine

Share to Portugal

Share to Serine

Share to Tyrosine

Source

Identifiers

PMID: 20714725
DOI: 10.1007/s00277-010-1034-x

Genes

HFE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20714725-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prevalence of H63D, S65C, and C282Y hereditary hemochromatosis gene variants in Madeira Island (Portugal).PMID 20714725Read ↗

Comparative study of the two more frequent HFE mutations (C282Y and H63D): significant different allelic frequencies between the North and South of Portugal.Semantic proximity Read ↗

Analysis of HFE genes C282Y, H63D, and S65D in patients with hyperferritinemia from northeastern Brazil.Semantic proximity Read ↗

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

HFE gene mutations in patients with altered iron metabolism in Argentina.Semantic proximity Read ↗

Carriers of the Complex Allele HFE c.[187C>G;340+4T>C] Have Increased Risk of Iron Overload in São Miguel Island Population (Azores, Portugal).Semantic proximity Read ↗

HFE gene polymorphism defined by sequence-based typing of the Brazilian population and a standardized nomenclature for HFE allele sequences.Semantic proximity Read ↗

Prevalence of C282Y, H63D, and S65C mutations in hereditary HFE-hemochromatosis gene in Lithuanian population.Semantic proximity Read ↗

Distribution of HFE C282Y and H63D mutations in the Balearic Islands (NE Spain).Semantic proximity Read ↗

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

Frequency of the HFE C282Y and H63D polymorphisms in Brazilian malaria patients and blood donors from the Amazon region.Semantic proximity Read ↗

Hereditary hemochromatosis in a Brazilian university hospital in São Paulo State (1990-2000).Semantic proximity Read ↗

Mutations in the HFE gene (C282Y, H63D, S65C) in a Brazilian populationSemantic proximity Read ↗

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