Next Generation Sequencing Allows Identification of a Novel Mutation in the Gene and Outperforms the Conventional Diagnostic Techniques.

Introduction: Type 3 hereditary hemochromatosis (HH) is a rare genetic disease due to mutations in the transferrin receptor 2 () gene.

Methods And Results: Here, we describe the case of an Italian patient presenting with hyperferritinemia and hepatic iron accumulation, not evidenced by magnetic resonance imaging, that was subsequently classified as HH Type 3 by the identification of the novel frameshift mutation c.523_524delC>T (p. Leu175Aspfs*41) in exon 4 of  gene through the whole exome sequencing (WES) approach.

Conclusion: WES would allow to diagnose rare HH-related diseases in patients with unexplained hepatic iron overload and/or aberrant circulating iron parameters.

Trial Registration: The authors have confirmed clinical trial registration is not needed for this submission.