Testing for rare types of Hereditary Hemochromatosis. A genetic study of two Italian families affected by early onset iron overload

As reported in the 2015 European Molecular Genetics Quality Network (EMQN) guidelines for the genetic diagnosis of Hereditary Hemochromatosis (HH), testing for rare variants in genes other than HFE poses a significant challenge for the haematologist. Knowing when to request an extended panel covering the whole spectrum of variants in non-HFE genes can be difficult in clinical practise and a confrontation with an expert geneticist is frequently required.1