Predicting iron overload in hyperferritinemia.
OBJECTIVE
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.
Olynyk
John K
JK
School of Medicine and Pharmacology, Faculty of Medicine, University of Western Australia, Nedlands, Western Australia. john.olynyk@uwa.edu.au
Gan
Eng
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Tan
Terrence
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D019943:Amino Acid Substitution; D005260:Female; D005293:Ferritins / Q000097:blood*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D019190:Iron Overload / Q000175:diagnosis*; D008099:Liver / Q000737:chemistry; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D020125:Mutation, Missense
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D005293:Ferritins