Hereditary Hemochromatosis: Clinical and Metabolic Disorders

Abstract

Resumo-Hereditary hemochromatosis is an autosomal recessive genetic disorder characterized by excessive iron accumulation in the body, leading to iron deposits in tissues and organs and impairing their function. This work presents a systematic literature review based on articles selected from the PubMed database, aiming to understand the genetic and molecular mechanisms of the disease, as well as diagnostic and therapeutic advances. The analyzed studies indicate that reduced hepcidin levels, a key iron-regulating peptide, play a central role in the development of hemochromatosis, and that mutations in specific genes-such as HFE, HJV, HAMP, TFR2, and SLC40A1-are associated with different types of the disease. Excess iron leads to inflammatory processes, fibrosis, cellular damage, and ferroptosis. The main symptoms are related to the liver but may also affect other systems, emphasizing the importance of early diagnosis. The findings show that, although often overlooked, hemochromatosis can be detected in its early stages through current molecular and biochemical testing, enabling therapeutic interventions that prevent severe organ damage.