Hereditary Hemochromatosis
DOI:
https://doi.org/10.52787/agl.v53i2.303Keywords:
Hereditary hemochromatosis, HFE gen, hepcidin, ferritin, cirrhosis, fhlebotomiesAbstract
Hereditary or genetic hemochromatosis is a group of disorders in which different mutations lead to iron overload affecting different organs and systems. This disease left to its natural history can cause cirrhosis, hepatocarcinoma, diabetes mellitus and arthropathies, among other pathologies. The involvement of one or more components of the hepcidin-ferroportin axis of the iron metabolism system is the common denominator of the different types of hereditary hemochromatosis. The HFE C282Y gene mutation is the most frequently detected mutation in Northern European patients and offspring. Diagnosis
is based on the biochemical phenotype, magnetic resonance imaging showing hepatic iron overload and detection of the HFE C282Y mutation, in the absence of other comorbidities. However, in South America, the HFE C282Y gene mutation is rare, which changes the algorithm for diagnosing the disease. The treatments of choice, which can reverse the involvement of organs affected by iron overload, are phlebotomies or erythropheresis.
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