1996
DOI: 10.1038/ng0896-399
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A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis

Abstract: Hereditary haemochromatosis (HH), which affects some 1 in 400 and has an estimated carrier frequency of 1 in 10 individuals of Northern European descent, results in multi-organ dysfunction caused by increased iron deposition, and is treatable if detected early. Using linkage-disequilibrium and full haplotype analysis, we have identified a 250-kilobase region more than 3 megabases telomeric of the major histocompatibility complex (MHC) that is identical-by-descent in 85% of patient chromosomes. Within this regi… Show more

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Cited by 3,443 publications
(2,730 citation statements)
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“…1 It is clear that the fundamental abnormality present in this condition is excessive absorption of iron in the duodenum. Two different theories regarding how the abnormal HFE protein coded by the HFE mutation results in excessive iron accumulation have been proposed ( Figure 1-steps 3); they are not mutually exclusive.…”
Section: Pathophysiology and Clinical Manifestations Of Hemochromatosismentioning
confidence: 99%
“…1 It is clear that the fundamental abnormality present in this condition is excessive absorption of iron in the duodenum. Two different theories regarding how the abnormal HFE protein coded by the HFE mutation results in excessive iron accumulation have been proposed ( Figure 1-steps 3); they are not mutually exclusive.…”
Section: Pathophysiology and Clinical Manifestations Of Hemochromatosismentioning
confidence: 99%
“…Most patients with haemochromatosis are homozygous for a single nucleotide substitution (C282Y) in the haemochromatosis gene (HFE) [3]. The wild-type HFE protein forms a heterodimer with β 2 -microglobulin.…”
Section: Introductionmentioning
confidence: 99%
“…6p22.2), has a much weaker effect on iron absorption, and does not prevent cell surface expression as in C282Y, but rather simply reduces HFE's efficacy in downregulating iron uptake (Feder et al, 1998). C282Y homozygosity is the predominant form associated with clinical symptoms in 80 to 92% of cases (Feder et al, 1996; Hanson et al, 2001; Aguilar‐Martinez et al, 2011). H63D is unlikely to produce hemochromatosis, even in homozygotes (Beutler, 2006; Adams, 2014; Kelley et al, 2014).…”
mentioning
confidence: 99%