Prevalence of abnormal iron studies in heterozygotes for hereditary hemochromatosis: An analysis of 255 heterozygotes

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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 μg/liter; mean ± standard error) was greater in heterozygotes than in normal subjects (87 ± 8.5 μg/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 μmol/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. Heterorygotes with minor elevations in serum ferritin or transferrin saturation do not have significant iron overload as assessed by hepatic iron concentration.