Journal ArticleDOI
Prevalence of Hemochromatosis among 11,065 Presumably Healthy Blood Donors
Corwin Q. Edwards,Linda M. Griffen,David E. Goldgar,Charles Drummond,Mark H. Skolnick,James P. Kushner +5 more
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TLDR
The value of population screening is demonstrated in these studies by the detection of homozygotes before clinical manifestations of hemochromatosis occur, and the efficacy of transferrin saturation as a screening tool for hemochROMatosis is determined.Abstract:
There is evidence that iron loading and organ damage can be prevented in patients with hemochromatosis if prophylactic phlebotomy is employed early in the disease--findings emphasizing the importance of early detection before clinical signs occur. This study was designed to determine the efficacy of transferrin saturation as a screening tool for hemochromatosis and to assess the frequency of homozygosity for the HLA-linked hemochromatosis gene in a healthy population. We screened 11,065 presumably healthy blood donors (5840 men and 5225 women). Donors with transferrin saturations of 62 percent or more after an overnight fast were considered potential homozygotes and were asked to undergo liver biopsy and pedigree analysis. The frequency of values for transferrin saturation of 62 or higher in men was 0.008 and in women 0.003. Thirty-eight persons with values higher than 62 were studied in detail; 35 underwent liver biopsy. Liver iron stores ranged from normal to markedly increased. Twelve siblings with an identical HLA match to a proband underwent liver biopsy, and 11 had increased liver iron stores. According to likelihood analysis of the pedigrees, 26 of the 38 probands were homozygotes, and 12 were heterozygotes. The estimated frequency of homozygosity was based on the data in men, because the threshold value of 62 for the transferrin saturation identified only half as many female homozygotes as expected. The frequency of homozygosity was 0.0045, corresponding to a gene frequency of 0.067. The value of population screening is demonstrated in these studies by the detection of homozygotes before clinical manifestations of hemochromatosis occur.read more
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Book ChapterDOI
Role of free radicals and catalytic metal ions in human disease: an overview.
TL;DR: The chapter discusses the metabolism of transition metals, such as iron and copper, and the chelation therapy that is an approach to site-specific antioxidant protection.
Journal ArticleDOI
A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis
John N. Feder,Andreas Gnirke,Winston Thomas,Zenta Tsuchihashi,David A. Ruddy,A. Basava,F. Dormishian,R. Domingo,Michael C. Ellis,A. Fullan,L.M. Hinton,Norman Jones,B.E. Kimmel,Gregory S. Kronmal,Peter M. San Francisco Lauer,V.K. Lee,Deborah B. Loeb,Felipa A. Mapa,Erin E. McClelland,Nicole C. Meyer,Gabe Mintier,N. Moeller,T. E. Moore,E. Morikang,Cynthia E. Prass,Leah Quintana,Steven M. Starnes,Randall C. Schatzman,K.J. Brunke,Dennis Drayna,Neil Risch,Bruce R. Bacon,Roger K. Wolff +32 more
TL;DR: Using linkage-disequilibrium and full haplotype analysis, this paper 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.
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A novel MHC class-I-like gene is mutated in patients with hereditary haemochromatosis
TL;DR: Using linkage–disequilibrium and full haplotype analysis, a region more than 3 megabases telomeric of the major histocompatibility complex (MHC) that is identical–by–descent in 85% of patient chromosomes is identified, containing a gene related to the MHC class I family, termed HLA–H, containing two missense alterations.
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Disorders of iron metabolism.
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Antioxidants in human health and disease
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References
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Journal ArticleDOI
Idiopathic hemochromatosis, an iron storage disease. A. Iron metabolism in hemochromatosis.
Stuart C. Finch,Clement A. Finch +1 more
TL;DR: IOPATHIC HEMOCHROMATOSIS, an IRON STORAGE DISEASE, and Iron Metabolism in Hemochromatosis: An Investigation.
Journal ArticleDOI
Hepatic pathology in relatives of patients with haemochromatosis.
Journal ArticleDOI
Evaluation of the iron status of a population
James D. Cook,James D. Cook,Clement A. Finch,Clement A. Finch,Nathan J. Smith,Nathan J. Smith +5 more
TL;DR: It is concluded that the accuracy of detecting iron deficiency in population surveys can be substantially improved by employing a battery of laboratory measurements of the iron status.
Journal ArticleDOI
Perspectives in Iron Metabolism
Clement A. Finch,H Huebers +1 more
TL;DR: IN early times the earth had a reducing atmosphere, and an abundance of ferrous iron was present for incorporation into biologic molecules, but later, with an increase in atmospheric oxygen, iron existed largely in its less available ferric form and special devices had to be developed by life forms for the acquisition of iron.
Journal ArticleDOI
Idiopathic hemochromatosis. Demonstration of recessive transmission and early detection by family HLA typing.
TL;DR: HLA typing in families with hemochromatosis could provide a means of early detection of subjects at risk before appearance of any sign of iron overload, and supports the conclusion that a hemochROMatosis gene is closely linked to the HLA-A locus.
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A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis
John N. Feder,Andreas Gnirke,Winston Thomas,Zenta Tsuchihashi,David A. Ruddy,A. Basava,F. Dormishian,R. Domingo,Michael C. Ellis,A. Fullan,L.M. Hinton,Norman Jones,B.E. Kimmel,Gregory S. Kronmal,Peter M. San Francisco Lauer,V.K. Lee,Deborah B. Loeb,Felipa A. Mapa,Erin E. McClelland,Nicole C. Meyer,Gabe Mintier,N. Moeller,T. E. Moore,E. Morikang,Cynthia E. Prass,Leah Quintana,Steven M. Starnes,Randall C. Schatzman,K.J. Brunke,Dennis Drayna,Neil Risch,Bruce R. Bacon,Roger K. Wolff +32 more