Open AccessAnalysis of HFE Genes C282Y, H63D, and S65D in Patients With Hyperferritinemia From Northeastern Brazil
Author(s) -
Leão Gioconda Dias Rodrigues,
Freire Juliana Mendonça,
Cunha Fernandes Andrea Luciana Araújo,
Moura de Oliveira Taissa Maria,
Leão Nilma Dias,
Gil Erica Aires,
Vasconcelos Roberto Chaves,
Azevedo João Paulo da Silva,
Farias Sales Valéria Soraya,
Araújo Moura Lemos Telma Maria,
Leão Marcos Dias,
do Nascimento Francisco Fernandes,
Maciel James Farley Rafael,
Freitas Rodrigo Villar,
Souza Paiva Aldair,
Cavalcanti Geraldo Barroso
Publication year - 2014
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.21663
Subject(s) - mutation , hemochromatosis , hereditary hemochromatosis , gastroenterology , medicine , etiology , genetics , gene , biology
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. Conclusion Due to the high prevalence of hemochromatosis, its genetic diagnosis has become a challenge, especially in the high‐risk group.