Case report demonstrates non-HFE hemochromatosis without hepatic fibrosis in an elderly Japanese patient, highlighting the clinical relevance of novel genetic variants in non-White populations.
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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Chaudhry et al. (2023) studied this question.
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