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 μg/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 μmol/g) compared with groups 1 and 3 subjects (39 ± 4 and 36 ± 5 μmol/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.
⁎School of Medicine and Pharmacology, Faculty of Medicine, University of Western Australia, Nedlands, Western Australia
‡Department of Gastroenterology, Fremantle Hospital, Fremantle, Western Australia
§Western Australian Institute of Medical Research, Perth, Western Australia
Reprints Address requests for reprints to: Professor John K. Olynyk, School of Medicine and Pharmacology, Fremantle Hospital, PO Box 480, Fremantle 6959, Western Australia. fax: (618) 94312977
Conflicts of interest The authors disclose the following: John K. Olynyk is the recipient of a National Health and Medical Research Council of Australia practitioner fellowship. The remaining authors disclose no conflicts.
ABSTRACT