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BIBTEX RIS

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

2014; Wiley; Volume: 28; Issue: 3 Linguagem: Inglês

10.1002/jcla.21663

ISSN

1098-2825

Autores

Gioconda Dias Rodrigues Leão, Juliana Mendonça Freire, Andrea Luciana Araújo Cunha Fernandes, Taissa Maria Moura de Oliveira, Nilma Dias Costa Leão, Erica Aires Gil, Roberto C Vasconcelos, João Paulo da Silva Azevedo, Valéria Soraya de Farias Sales, Telma Maria Araújo Moura Lemos, Marcos Dias Leão, Francisco Fernandes do Nascimento, J.F.R. Maciel, Rodrigo Villar Freitas, Aldair de Souza Paiva, Geraldo Barroso Cavalcanti,

Tópico(s)

Trace Elements in Health

Resumo

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.

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