HFE genotyping: Maximising the value for hemochromatosis patients and families

Abstract

HFE genotyping is now firmly established as an essential diagnostic tool in the management of genetic hemochromatosis. If there is any uncertainty about the clinical value of HFE genotyping it is most likely directed at the non-C282Y genotypes. The article by Castiella et al. in this issue of the Journal focuses our attention on the significance of the H63D mutation in hemochromatosis, a topic that has been controversial. It is appropriate that this study should be reported from Spain where the H63D mutation is more common in the general population than in many other countries. Show more