Iron Man: Non-HFE Hemochromatosis Without Significant Fibrosis. Issue 1 (25th January 2023)

• Record Type: Journal Article
• Authors: Chaudhry, Hunza; Sohal, Aalam; Petrosyan, Arpine; Laput, Gieric; Roytman, Marina; Prajapati, Devang
• Is Part Of: ACG Case Reports Journal. Volume 10:Issue 1(2023)
• Page Start: e00982
• Publication Date: 2023-01-25
• Subjects: non-HFE -- hemochromatosis -- fibrosis -- ferritin
• DOI: 10.14309/crj.0000000000000982
• Languages: English
• ISSNs: 2326-3253

Abstract

ABSTRACT: 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.