Novel mutation in the Transferrin receptor-2 in a patient with Hereditary Hemochromatosis type 3

Abstract

Hereditary Hemochromatosis is a genetic disorder characterized by disrupted iron metabolism related to gene defects altering the expression of regulatory proteins. Up-regulation of iron absorption leads to excess iron deposition in multiple organs, resulting in the development of liver cirrhosis, endocrinopathies, bone and joint disease, as well as cardiomyopathy and heart failure. So far different mutations have been described for the concerned genes and rare are the mutations related to type 3 Hereditary Hemochromatosis (HH). In this unique report, we present a case of HH in a 15-year-old boy caused by a novel genetic mutation, a frameshift mutation (c.2093_2096delGAGA) in exon 17 of the TFR2 gene. To our knowledge, this is the first time such a mutation in the TFR2 gene is reported.