Journal of Genetic Syndromes & Gene Therapy
Open Access

Abstract

Review and actualizations of Molecular Genetic Diagnosis, Symptoms, and diagnostic strategies of Hereditary Hemochromatosis

Silvia Izquierdo Álvarez, Eloísa Urrechaga Igartua and Jesús Fernando Escanero Marcén

The hemochromatosis term describes a group of diseases caused by excess iron in the body. Hemochromatosis is the inborn error of metabolism most frequent (80%) and is considered a potentially serious illness due to cell damage that occur in different organs such as liver, heart, joins, skin or pancreas because for much of the life can develop without symptoms. Hereditary Hemochromatosis (HH) is an autosomal recessive disorder characterized by iron overload. Liver cirrhosis, diabetes, cardiomyopathy, arthritis, hypogonadism and skin pigmentation can be caused by iron overload. Most patients with hemochromatosis are p.Cys282Tyr homozygous or p.Cys282Tyr/p.His63Asp compound heterozygous. In addition to HFE gene, mutations in the genes that encode Hemojuvelin (HJV),Hepcidin (HAMP), Transferring Receptor 2 (TFR2) and Ferroportin (SLC40A1) have been associated with regulation of iron homeostasis and development of HH. The aim of this paper is to review the main gene mutations involved in the pathogenesis of HH type 1 to 4 and their genetic testing indication. With diverse diagnostic tests are reporting practices in use, there is a clear need for establishing a review of hemochromatosis genetic testing and diagnostic strategies ofHH. Most importantly, early and effectiveness diagnosis and treatment of HH prevents complications and results in a normal life expectancy. Review of algorithms of diagnostic strategies in HH is presented in this work.