Diagnosis and Treatment of HFEC282Y-Linked Hemochromatosis
Author:
- 3 July 2025
- book chapter
- Published by Springer Nature
- Vol. 1480, 119-130
Abstract
Genetic variants for hemochromatosis have been identified in human fossils that are over 4000 years old in Northern Ireland. Iron overload can lead to life-threatening complications, including liver fibrosis, cirrhosis, and hepatocellular carcinoma. In this review, the emphasis is on developments in the diagnosis and treatment of C282Y-linked hemochromatosis. There is a need for earlier diagnosis leading to earlier treatment to prevent morbidity and mortality.Keywords
This publication has 52 references indexed in Scilit:
- Testing and Management of Iron Overload After Genetic Screening–Identified HemochromatosisJAMA Network Open, 2023
- Hemochromatosis Genetic Variants and Musculoskeletal Outcomes: 11.5‐Year Follow‐Up in the UK Biobank Cohort StudyJBMR Plus, 2023
- Diagnosis and Management of Hereditary HemochromatosisJAMA, 2022
- The effect of a natural polyphenol supplement on iron absorption in adults with hereditary hemochromatosisEuropean Journal of Nutrition, 2022
- Association of Hemochromatosis HFE p.C282Y Homozygosity With Hepatic MalignancyJAMA, 2020
- Systematic Review of the Clinical Outcomes of Iron Reduction in Hereditary HemochromatosisHepatology, 2020
- Cost-Effectiveness of Different Population Screening Strategies for Hereditary Haemochromatosis in AustraliaApplied Health Economics and Health Policy, 2016
- Quantification of liver iron with MRI: State of the art and remaining challengesJournal of Magnetic Resonance Imaging, 2014
- A Phase 1/2, Dose-Escalation Trial of Deferasirox for the Treatment of Iron Overload in HFE -Related Hereditary HemochromatosisHepatology, 2010
- HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high‐performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS Study participantsAmerican Journal of Hematology, 2009