title: Analysis of HFE genes C282Y, H63D, and S65D in patients with hyperferritinemia from northeastern Brazil.
abstract: BACKGROUND
  Hereditary 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.
  
  
  RESULTS
  Of 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.
  
  
  CONCLUSIONS
  Due to the high prevalence of hemochromatosis, its genetic diagnosis has become a challenge, especially in the high-risk group.
authors.affiliation: Laboratório DNA-Center, Natal-RN, Tirol, Natal-RN, Brazil; Departamento de Análises Clínicas e Toxicológicas, Centro de Ciências da Saúde, Rua General Gustavo Cordeiro de Farias S/N, Universidade Federal do Rio Grande do Norte, Petropolis, Natal-RN, Brazil.
authors.forename: Gioconda Dias Rodrigues
authors.initials: GD
authors.lastname: Leão
authors.forename: Juliana Mendonça
authors.initials: JM
authors.lastname: Freire
authors.forename: Andrea Luciana Araújo
authors.initials: AL
authors.lastname: Cunha Fernandes
authors.forename: Taissa Maria
authors.initials: TM
authors.lastname: Moura de Oliveira
authors.forename: Nilma Dias
authors.initials: ND
authors.lastname: Leão
authors.forename: Erica Aires
authors.initials: EA
authors.lastname: Gil
authors.forename: Roberto Chaves
authors.initials: RC
authors.lastname: de Vasconcelos
authors.forename: João Paulo da Silva
authors.initials: JP
authors.lastname: Azevedo
authors.forename: Valéria Soraya
authors.initials: VS
authors.lastname: de Farias Sales
authors.forename: Telma Maria
authors.initials: TM
authors.lastname: de Araújo Moura Lemos
authors.forename: Marcos Dias
authors.initials: MD
authors.lastname: Leão
authors.forename: Francisco Fernandes
authors.initials: FF
authors.lastname: do Nascimento
authors.forename: James Farley Rafael
authors.initials: JF
authors.lastname: Maciel
authors.forename: Rodrigo Villar
authors.initials: RV
authors.lastname: de Freitas
authors.forename: Aldair
authors.initials: A
authors.lastname: de Souza Paiva
authors.forename: Geraldo Barroso
authors.initials: GB
authors.lastname: Cavalcanti
mesh_terms: D001938:Brazil / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006432:Hemochromatosis / Q000453:epidemiology / Q000235:genetics*; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics*; D009154:Mutation; D015995:Prevalence
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins
keywords: C282Y mutation; H63D mutation; S65C mutation; hereditary hemochromatosis; hyperferritinemia