Regular ArticleGenetic and Clinical Description of Hemochromatosis Probands and Heterozygotes: Evidence That Multiple Genes Linked to the Major Histocompatibility Complex Are Responsible for Hemochromatosis☆,☆☆
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Cited by (155)
HFE hemochromatosis in African Americans: Prevalence estimates of iron overload and iron overload-related disease
2023, American Journal of the Medical SciencesCitation Excerpt :We found no description of an AA with HFE p.H63D/p.H63D identified either in population screening or in a referral evaluation who had documented IO as defined herein. Proportions of referred EA and European patients in hemochromatosis case series with p.H63D/p.H63D are very low.3,20-23 The proportion of referred patients with p.H63D/p.H63D who have documented IO is also very low.21-23
Iron Metabolism and Related Disorders
2013, Emery and Rimoin's Principles and Practice of Medical GeneticsIncreased Risk of Death From Iron Overload Among 422 Treated Probands With HFE Hemochromatosis and Serum Levels of Ferritin Greater Than 1000 μg/L at Diagnosis
2012, Clinical Gastroenterology and HepatologyCitation Excerpt :We included probands who (1) were diagnosed to have hemochromatosis during medical care; (2) had HFE C282Y homozygosity; (3) were treated to achieve iron depletion by phlebotomy if SF levels at diagnosis were elevated (men, >300 μg/L; women, >200 μg/L)3,14; and (4) resided in central Alabama or Ontario. Each proband was evaluated for complications associated with iron overload, as appropriate.15–17 SF levels were measured using automated clinical methods.
Hemochromatosis Genotypes and Risk of Iron Overload-A Meta-Analysis
2011, Annals of EpidemiologyCitation Excerpt :One article provided separate tabular data for subjects with elevated TS, SF, and sFe, and for those with elevated TS, SF, sFe, HII, HIS, and mobilizable iron by quantitative phlebotomy, thus adding another two studies to the analyses (20). Each of the other articles corresponded to one study, thus cases were selected according to: elevated TS, one study (21); elevated SF, four studies (22–25); elevated TS, SF, and sFe, five studies (26–30); elevated TS, SF sFe, HII, HIS, and mobilizable iron by quantitative phlebotomy, 20 studies (8, 31–49); and elevated HIS and mobilizable iron by quantitative phlebotomy, five studies (50–54). Twelve studies used TS cutoff values of 45%–50%, as follows: overall TS greater than 45% (21, 30, 31, 36, 38), overall TS greater than 50% (8, 32, 37, 44, 48), TS greater than 50% in males and TS greater than 45% in females (20).
Tumor necrosis factor-alpha promoter variants and iron phenotypes in 785 Hemochromatosis and Iron Overload Screening (HEIRS) Study participants
2010, Blood Cells, Molecules, and Diseases
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04/23/97
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J, H, BrockJ, W, HallidayM, J, PippardL, W, Powell, eds.
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Reprint request to: Dr. James C. Barton, Southern Iron Disorders Center, Suite G-105, 2022 Brookwood Medical Center Drive, Birmingham AL 35209, phone (205) 877-2888, fax (205) 877-2039, e-mail: [email protected]