Preprint Review Version 1 Preserved in Portico This version is not peer-reviewed

Hereditary Hemochromatosis – How Not to Overlook and Properly Manage “Iron People”- a Critical Overview

Version 1 : Received: 21 February 2024 / Approved: 23 February 2024 / Online: 25 February 2024 (23:35:08 CET)

How to cite: Szczerbinska, A.; Kasztelan-Szczerbinska, B.; Rycyk-Bojarzynska, A.; Cichoz-Lach, H. Hereditary Hemochromatosis – How Not to Overlook and Properly Manage “Iron People”- a Critical Overview. Preprints 2024, 2024021362. https://doi.org/10.20944/preprints202402.1362.v1 Szczerbinska, A.; Kasztelan-Szczerbinska, B.; Rycyk-Bojarzynska, A.; Cichoz-Lach, H. Hereditary Hemochromatosis – How Not to Overlook and Properly Manage “Iron People”- a Critical Overview. Preprints 2024, 2024021362. https://doi.org/10.20944/preprints202402.1362.v1

Abstract

Hereditary hemochromatosis (HH) is the main genetic cause of iron overload and is regarded as metal-related human toxicosis. HH may result from HFE and non-HFE gene mutations causing hepcidin deficiency or hepcidin resistance. The disorder has a high biochemical penetrance, but a low clinical prevalence. Unfortunately, the majority of patients with HH remain undiagnosed at their disease-curable stage. The main aim of HH therapy is to prevent iron overload in the early-phase disease and elimination of excess iron from the body by phlebotomy in its late stage. Raising global awareness of HH among health professionals, their training to pay attention to early HH signs and symptoms, and strict patient monitoring are critical management strategies for preventing treatment delays, upgrading its efficacy, and improving patient prognosis.

Keywords

hereditary hemochromatosis; iron overload; HFE gene mutation; non-HFE gene mutation; phlebotomy

Subject

Medicine and Pharmacology, Gastroenterology and Hepatology

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