Iron status markers in hereditary haemochromatosis: Distinction between individuals being homozygous and heterozygous for the haemochromatosis allele

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Abstract
Iron status markers, serum iron, serum transferrin, transferrin saturation and serum ferritin were analysed in 162 homozygous patients with clinical haemochromatosis, in 12 homozygous relatives with preclinical haemochromatosis, in 84 heterozygous, and in 9 normal subjects. In the distinction between homozygous patients with clinical haemochromatosis and heterozygotes, transferrin saturation and serum ferritin showed the highest diagnostic efficiencies. A diagnostic efficiency of 0.97 was obtained with a transferrin saturation value of 60%. A discriminatory transferrin saturation value of greater than 50% correctly classified 173 out of the 174 individuals with preclinical + clinical haemochromatosis, whereas a discriminatory value of greater than 60% identified 158 out of the 162 patients with clinical haemochromatosis. All patients with clinical haemochromatosis had transferrin saturation values greater than 50%. 10 heterozygotes had transferrin saturation values greater than 50%, and 3 values greater than 60%. Normal subjects had transferrin saturation values less than 47%. A diagnostic efficiency of 0.99 was obtained using a discriminatory serum ferritin value of 800 micrograms/l. Patients with clinical haemochromatosis had higher ferritin (p less than 0.001) than subjects with preclinical haemochromatosis, who in turn had higher values than heterozygotes (p less than 0.001). Iron status markers in heterozygotes and normal subjects displayed no significant differences.