Iron overload is rare in patients homozygous for the H63D mutation

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...

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Bibliographic Details
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
Description
Summary: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.

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