Hereditary Hemochromatosis: Clinical and Metabolic Disorders
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. The study also highlights that advancements in molecular genetics have significantly contributed to a better understanding of the disease’s pathophysiology and to the implementation of more effective clinical approaches. Thus, the relevance of genetic screening and monitoring of iron levels is reinforced as fundamental strategies in the management of hereditary hemochromatosis.
