Analysis of HFE genes C282Y, H63D, and S65D in patients with hyperferritinemia from northeastern Brazil.

doi:10.1002/jcla.21663

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Article

Analysis of HFE genes C282Y, H63D, and S65D in patients with hyperferritinemia from northeastern Brazil.

Journal of clinical laboratory analysis - 1 May 2014

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

Abstract excerpt

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...

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PMID: 24395214
DOI: 10.1002/jcla.21663
PMCID: PMC6807581

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