title: Prevalence of abnormal iron studies in heterozygotes for hereditary hemochromatosis: an analysis of 255 heterozygotes.
abstract: Iron studies were compared in 434 patients from 80 hemochromatosis families classified as putative homozygotes, heterozygotes, and normal by HLA typing. There were 28 of 255 (11%) heterozygotes with an elevated serum ferritin and 22 of 255 (8.6%) with an elevated transferrin saturation. Serum ferritin (140 +/- 10.2 micrograms/liter; mean +/- standard error) was greater in heterozygotes than in normal subjects (87 +/- 8.5 micrograms/liter; P < .05, Mann Whitney test). Transferrin saturation was greater in heterozygotes (38% +/- 0.88%) than in normal patients (29% +/- 1.1%; P < .0001). Mean hepatic iron concentration was 54 +/- 6 mumol/g (n = 17), and the hepatic iron index was < 2 in these patients. Most heterozygotes for hemochromatosis have a normal serum ferritin and transferrin saturation. Heterozygotes with minor elevations in serum ferritin or transferrin saturation do not have significant iron overload as assessed by hepatic iron concentration.
authors.affiliation: Department of Medicine, University Hospital, University of Western Ontario, London, Canada.
authors.forename: P C
authors.initials: PC
authors.lastname: Adams
mesh_terms: D005260:Female; D005293:Ferritins / Q000097:blood; D015234:HLA-A Antigens / Q000032:analysis; D015235:HLA-B Antigens / Q000032:analysis; D006432:Hemochromatosis / Q000097:blood* / Q000235:genetics*; D006579:Heterozygote; D006650:Histocompatibility Testing; D006801:Humans; D007501:Iron / Q000097:blood*; D008099:Liver / Q000737:chemistry; D008297:Male; D008875:Middle Aged; D014168:Transferrin / Q000378:metabolism
chemical_list: D015234:HLA-A Antigens; D015235:HLA-B Antigens; D014168:Transferrin; D005293:Ferritins; D007501:Iron