Hemocromatosis hereditaria, una revisión

Abstract

Introduction: Hereditary hemochromatosis Type 1 represents the most common inborn error of metabolism in the general population. All types of hemochromatosis are characterized by iron overload, in different organs, causing the specific patological manifestations.  This work is a review of all known types of hemochromatosis, the symptoms, associated genes risk alleles, new analytical methods to estimate iron concentration, molecular diagnosis, and clinical management.

Methods: A non-systematic study of articles, incidence reports and patient studies, published in medical journals, in English and Spanish, from 1996 to March 2019, was achieved using Google Scholar and PubMed. Hemochromatosis, genes, types, and diagnosis were used as search indicators.

Findings: Hereditary hemochromatosis diseases are characterized by iron overload, generated by a higher absorption of this element. There are several genes involved of which the HFE gene is mutated in most affected individuals. The symptoms are produced according to the location and deposit of this metal. The leading and most used treatment continues to be phlebotomy.

Conclusions: A high prevalence of hemochromatosis worldwide the pathological organ-specific consequences, as well as the easy treatment, urges the need for an early diagnosis of this entity in the Costa Rican population.