Iron Man: Non-HFE Hemochromatosis Without Significant Fibrosis

Hemochromatosis is a genetic disorder marked by abnormally high levels of intestinal iron absorption leading to severe end-organ damage. It is classically associated with HFE gene mutations, including C282Y and H63D, but in recent years, many non-HFE mutations along with novel variants have been dis...

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Detalles Bibliográficos
Autores principales: Chaudhry, Hunza, Sohal, Aalam, Petrosyan, Arpine, Laput, Gieric, Roytman, Marina, Prajapati, Devang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9875996/
https://www.ncbi.nlm.nih.gov/pubmed/36713280
http://dx.doi.org/10.14309/crj.0000000000000982
Descripción
Sumario:Hemochromatosis is a genetic disorder marked by abnormally high levels of intestinal iron absorption leading to severe end-organ damage. It is classically associated with HFE gene mutations, including C282Y and H63D, but in recent years, many non-HFE mutations along with novel variants have been discovered, particularly among non-Whites. We describe a case of an elderly Japanese patient who was evaluated for markedly elevated ferritin found to have hemochromatosis, with no hepatic fibrosis while being negative for HFE and common non-HFE gene mutations.

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