Severe Hereditary Hemochromatosis Due to Heterozygous H63D Mutation: Unusual Presentation
1. Abstract 1.1. Introduction Diagnosis of hereditary hemochromatosis is based on molecular sequencing of the HFE gene in search for one of the three most frequent mutations: p.Cys282Tyr (C282Y); p.His63Asp (H63D) and pSer65Cys (S65C). Iron overload linked to the H63D mutation especially in the heterozygous state is not conventionally considered significant enough to cause the …