Open AccessJournal Article
Hereditary hemochromatosis: etiologic, pathologic, and clinical aspects.
Thomas H. Bothwell,A P MacPhail +1 more
TLDR
Using this approach it is now possible to detect individuals homozygous or heterozygous for the HFE gene using a simple polymerase chain reaction-based test, which promises to provide fresh insights into the range of phenotypic expression in hereditary hemochromatosis.About:
This article is published in Seminars in Hematology.The article was published on 1998-01-01 and is currently open access. It has received 142 citations till now. The article focuses on the topics: Hereditary hemochromatosis & Hemochromatosis.read more
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Journal ArticleDOI
Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse.
Chris D. Vulpe,Yien-Ming Kuo,T. L. Murphy,L. Cowley,Candice C. Askwith,Natasha Libina,Jane Gitschier,Gregory J. Anderson +7 more
TL;DR: It is suggested that the hephaestin protein is a multi–copper ferroxidase necessary for iron egress from intestinal enterocytes into the circulation and that it is an important link between copper and iron metabolism in mammals.
Journal ArticleDOI
HFE Gene and Hereditary Hemochromatosis: A HuGE Review
TL;DR: In this paper, the authors found that 5% of HHC probands were found to be compound heterozygotes (C282Y/H63D), and 1.5% were homozygous for the H63D mutation; 3.6% were C282Y heterozygote, and 5.2% were H 63D heterozygous.
Journal ArticleDOI
Interaction of the hereditary hemochromatosis protein HFE with transferrin receptor 2 is required for transferrin-induced hepcidin expression.
Junwei Gao,Juxing Chen,Maxwell Kramer,Hidekazu Tsukamoto,Hidekazu Tsukamoto,An Sheng Zhang,Caroline A. Enns +6 more
TL;DR: Two hepatic cell lines are reported, where hepcidin expression responded to iron-loaded transferrin, and results supported the finding that TfR2/HFE complex is required for transcriptional regulation of hePCidin by holo-Tf.
Journal ArticleDOI
HFE mutations, iron deficiency and overload in 10 500 blood donors
Helen A. Jackson,Kymberley Carter,C. Darke,M. G. Guttridge,David Ravine,R. D. Hutton,J. A. Napier,Mark Worwood +7 more
TL;DR: The influence of HFE genotype on iron status was investigated in 10 556 blood donors as mentioned in this paper, where the allele frequencies of the C282Y and H63D mutations were 8.23% and 15.3% respectively.
Journal ArticleDOI
Alternative RNA splicing generates a glycosylphosphatidylinositol-anchored form of ceruloplasmin in mammalian brain.
TL;DR: It is determined that the GPI-anchored form of ceruloplasmin is generated by alternative RNA splicing and is likely to play an important role in iron metabolism in the central nervous system.
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