Background & aims: Hyperferritinemia is a common abnormality. This study determined the prevalence of hepatic iron overload in subjects of northern European origin with hyperferritinemia.
Methods: Fifty-two consecutive subjects referred for evaluation of suspected iron overload (serum ferritin level >350 microg/L) were divided into 3 groups: group 1, increased transferrin saturation and no significant hemochromatosis gene product (HFE) mutations (N = 17); group 2, increased transferrin saturation and C282Y homozygosity or C282Y/H63D compound heterozygosity (N = 22); and group 3, normal transferrin saturation and no significant HFE mutations (N = 13). All subjects underwent magnetic resonance R2 relaxometry for quantitation of hepatic iron concentration (HIC).
Results: The HIC was significantly higher in group 2 subjects (123 +/- 22 micromol/g) compared with groups 1 and 3 subjects (39 +/- 4 and 36 +/- 5 micromol/g, respectively) (P < .01). Nine of 22 subjects in group 2 had an increase of their HIC to greater than 3 times the upper limit of normal compared with none in the other 2 groups (P < .01).
Conclusions: An increase of HIC to greater than 3 times the upper limit of normal is highly unlikely in hyperferritinemic subjects who do not have HFE-related hereditary hemochromatosis or causes of secondary iron overload.