Iron overload is rare in patients homozygous for the H63D mutation

• Main Authors: Kelley, Melissa, Joshi, Nikhil, Xie, Yagang, Borgaonkar, Mark
• Format: Text
• Language: English
• Published: Pulsus Group Inc 2014
• Subjects: Original Article; Newfoundland
• Online Access: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4071918; http://www.ncbi.nlm.nih.gov/pubmed/24729993

Hereditary hemochromatosis is characterized by increased iron absorption and tissue deposition, and is one of the most common inherited conditions among individuals of Northern European descent. Two particular mutations in the HFE gene have been implicated in the development of hemochromatosis: the cysteine-to-tyrosine substitution at amino acid position 282 (C282Y), and the histidine-to-aspartic acid substitution at position 63 (H63D). The overall clinical significance of the H63D mutation, however, remains less than clear than its C282Y counterpart. This study aimed to determine the penetrance of H63D homozygosity in a referred population in Newfoundland and Labrador.