HEREDITARY HEMOCHROMATOSIS: INVESTIGATION OF IRON PROFILE AND COMPLICATIONS OF MULTI-ORGAN OVERLOAD

Abstract

Introduction: Hereditary Hemochromatosis (HH) has been characterized as a genetic disorder of iron metabolism, based on inadequate hepcidin regulation and frequently associated with mutations in the HFE gene. Molecular pathophysiology has shown uncontrolled intestinal absorption, requiring investigation based on precise serum biomarkers, where transferrin saturation and ferritin acted as essential primary indicators for detecting overload before the manifestation of irreversible tissue damage. Objective: This systematic review aimed to analyze the strategies for investigating the iron profile in HH and correlate the diagnostic findings with the development of systemic complications in target organs. Methodology: A literature search based on the PRISMA checklist was conducted in the PubMed, SciELO, and Web of Science databases, using the descriptors: Hemochromatosis, Iron Overload, Hepcidin, Early Diagnosis, and Prognosis. Original articles and reviews published in the last 10 years, in English and Portuguese, were included, excluding editorials and duplicate studies. Results: The analysis of the studies indicated that elevated transferrin saturation consistently preceded hyperferritinemia, establishing itself as the most sensitive phenotypic marker. Furthermore, it was observed that early identification of alterations in the iron profile significantly prevented progression to serious complications such as liver cirrhosis and heart failure. Conclusion: It was concluded that the systematic investigation of iron metabolism, based on an understanding of the pathophysiology and the rational use of biomarkers, was crucial for effective clinical management, reducing morbidity and mortality associated with the disease.