Tratamiento terapéutico de primera elección para pacientes diagnosticados con hemocromatosis hereditaria

Abstract

Hereditary hemochromatosis is a genetic disease that causes mutations in the HFE gene, specifically it suffers alterations or affectations in chromosome 6, so it is characterized by the accumulation of iron deposits in the tissues of the human body, resulting in complications in different vital organs such as the liver, heart or pancreas. At a general level it can present symptoms, as well as patients can be asymptomatic, since it will depend on the location of the iron accumulation in the organs; clinical laboratory tests such as ferritin, as well as liver biopsy, X-ray images and genetic study allow us to identify and detect hereditary hemochromatosis. In the present document a methodology of investigative, informative and explorative type was applied, for which a compilation of information was made that allowed us the resolution of a clinical case of a patient with hereditary hemochromatosis, through which analyzed the different parameters such as ferritin and transferrin saturation, as well as liver biopsy tests, with which you can determine a treatment of first choice and implement an appropriate diet. In this way, the possible or future complications that the patient may present were determined. And finally, information can be found on how HH acts biochemically and genetically in humans.