Analysis of HFE Genes C282Y, H63D, and S65D in Patients With Hyperferritinemia From Northeastern Brazil

作者：Rodrigues Leao Gioconda Dias; Freire Juliana Mendonca; Araujo Cunha Fernandes Andrea Luciana; Moura de Oliveira Taissa Maria; Leao Nilma Dias; Gil Erica Aires; de Vasconcelos Roberto Chaves; da Silva Azevedo Joao Paulo; de Farias Sales Valeria Soraya; de Araujo Moura Lemos Telma Maria; Leao Marcos Dias; do Nascimento Francisco Fernandes Jr; Rafael Maciel James Farley; Freitas Rodrigo Villar de; Paiva Aldair de Souza; Cavalcanti Geraldo Barroso Jr^*

来源：Journal of Clinical Laboratory Analysis, 2014, 28(3): 178-185.

DOI：10.1002/jcla.21663

• hyperferritinemia
• S65C mutation
• C282Y mutation
• H63D mutation
• hereditary hemochromatosis

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.

• 出版日期2014-5