Abstract Hemochromatosis includes a variety of chronic syndromes of genetic origin with iron overload, which can be classified according to genetic mutations in four groups, from type 1 to type 4. Of these, the most frequent type is type 1 hereditary hemochromatosis, which corresponds to over 90% of cases. Hereditary hemochromatosis is a recessive disorder in which a dominant mutation of the hemochromatosis gene (HFE) generates an increased absorption and severe iron overload. The American study showed that a multi-ethnic population of every 227 white people is homozygous for the C282Y HFE gene mutation, implicated in hemochromatosis type 1. The HFE, is located on chromosome 6, and may have three types of mutations of this gene, however the most common mutation is C282Y. Key words Iron, hemochromatosis, iron homeostasis, iron overload, HFE, genetic disease. INTRODUCTIONHemochromatosis includes a variety of chronic iron over-load syndromes of genetic origin. They can be classified into 4 groups from type 1 to type 4 according to genetic mutations. The most frequent is type 1, hereditary hemo-chromatosis, which accounts for more than 90% of all cases (1). Hereditary hemochromatosis is a dominant recessive disorder in which mutation of the HFE hemochromatosis gene generates increases in iron absorption and severe iron overload. A North American study of a multiethnic popula-tion showed that 1 out of every 227 white people is homo-zygous for the mutation of the HFE C282Y gene involved in hemochromatosis type 1 (2, 3).HFE has been located in chromosome 6. Possibly there are 3 types of mutations of this gene. However, the most frequent mutation is C282Y (4).CLINICAL CASE REVIEW A 45 year old male patient came to the emergency ser-vice after three days of melenas and massive hematemesis. Concomitantly he had asthenia, adynamia, dizziness and orthostatism. He had a record of diabetes mellitus treated with insulin for 6 years with periodic check-ups. The patient regularly drank aguardiente until intoxication, with significant ingestion of aguardiente 5 days before hospital admission.• Patient was admitted in generally bad condition with generalized mucocutaneous paleness, but patient was conscious and alert.• Blood Pressure 90/60; Heart Rate 96/min; Respiratory Rate 20/min • Cardiopulmonary assessment: Satisfactory• Abdomen: No collateral circulation, ascites or hepatos-plenomegaly.