Article

A rare variant on a common risk haplotype of <i>HFE</i> causes increased risk of hereditary hemochromatosis

2019-02-12

Abstract excerpt

Hereditary hemochromatosis (HH) is an autosomal recessive disorder of excess iron absorption. The most common form, HH1, is caused by loss of function variants in HFE. HFE encodes a cell surface protein that binds to the Transferrin Receptor (TfR1), reducing TfR1’s affinity for the transferrin/iron complex and thereby limiting cellular iron uptake. Two common missense alleles for HH1 have been identified, HFE C2...

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Literature Corpus work: 1b3c87dd-4677-56ea-84ce-5776e68943ec
DOI: 10.1101/547471

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