HFE protein impact on iron metabolism

Hereditary hemochromatosis type 1 is an autosomal recessive disorder caused by HFE gene mutations, which is an iron homeostasis metabolism controlling co-factor. Adults with male predomination present with clinical symptoms derived by iron overload in organs. The phenotype expression is individual w...

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Detalles Bibliográficos
Autores principales: Kaczorowska-Hać, Barbara, Kaczor, Jan Jacek
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2017
Materias:
Review Article/Praca Poglądowa
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8522971/
https://www.ncbi.nlm.nih.gov/pubmed/28796976
http://dx.doi.org/10.34763/devperiodmed.20172102.8590
Descripción
Sumario:Hereditary hemochromatosis type 1 is an autosomal recessive disorder caused by HFE gene mutations, which is an iron homeostasis metabolism controlling co-factor. Adults with male predomination present with clinical symptoms derived by iron overload in organs. The phenotype expression is individual with an influence of individual and environmental factors. Despite the fact that HFE variants are widespread, its impact still remains unknown. The article reviews the literature considering the role of HFE gene mutations regarding its impact in children.

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