ArticleJournal of clinical laboratory analysis2014
Analysis of HFE genes C282Y, H63D, and S65D in patients with hyperferritinemia from northeastern Brazil.
Article in Journal of clinical laboratory analysis, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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Who cites it
6 citing papers in PubMed, 14 citations in OpenAlex.
- Article
- HFE mutations in patients with iron overload in Santa Catarina: a cross-sectional study.Sao Paulo medical journal = Revista paulista de medicina · 2025Article
- Hereditary hemochromatosis beyond hyperferritinemia: Clinical and laboratory investigation of the patient's profile submitted to phlebotomy in two reference centers in southern Brazil.Genetics and molecular biology · 2023Article
- Effect of the Hemochromatosis Mutations on Iron Overload among the Indian β Thalassemia Carriers.Journal of clinical laboratory analysis · 2017Article
- Hereditary hemochromatosis.Autopsy & case reportsArticle
- Iron overload is not the same everywhere: Particularities of iron-metabolism gene mutations in Brazil and a proposal for the investigation and management of iron overload in this population.Hematology, transfusion and cell therapyReview
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Authors and funding
16 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHereditary hemochromatosis (HH) is a genetic disease caused by the high absorption and deposition of iron in several organs. This accumulation results in several clinical complications such as cirrhosis, arthritis, cardiopathies, diabetes, sexual disorders, and skin darkening. The H63D and C282Y mutations are well defined in the HH etiology. The objective of this article is identification of the H63D and C282Y mutations in the HFE protein gene and the frequency assessment of these mutations in patients with persistent increase of serum ferritin in patients from Natal City from state of Rio Grande do Norte, located in northeastern Brazil.
resultsOf the 299 patients studied for C282Y and H63D, 48.49% showed absence of mutation and 51.51% showed some sort of mutation: heterozygous C282Y mutation in 4.35% patients, homozygous C282Y mutation in 2.67% patients, heterozygous H63D mutation in 31.44% patients, homozygous H63D mutation in 8.03% patients, and heterozygous for the mutation in both genes (C282Y/H63D) in 5.02% patients. The S65C mutation was studied in 112 patients and heterozygous mutation (S65D/WT) in 2.67% of patients and double mutation (H63D/S65C) in 1.78% of patients were observed.
conclusionDue to the high prevalence of hemochromatosis, its genetic diagnosis has become a challenge, especially in the high-risk group.
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