Hepatic iron loading in patients with compound heterozygous HFE mutations.
OBJECTIVE
To assess the severity of hepatic iron loading in patients with a compound heterozygous C282Y/H63D HFE genotype.


METHODS
A total of 246 patients were referred to the Hepatology Clinic at a tertiary hospital for HFE genotyping and further assessment of elevated serum transferrin saturation and/or ferritin results, either with or without abnormal liver function tests. Subjects of the study were 19 patients compound heterozygous for HFE who had liver biopsy, quantitative liver iron estimation and liver histopathology.


RESULTS
Mild iron overload [hepatic iron concentration between 30 and 100 micromol/g dry weight], was present in 16/19 compound heterozygous patients, three patients had values within the reference range. As well as the compound heterozygous HFE genotype, 18/19 patients were found to have had at least one additional risk factor for developing either iron loading or liver disease.


CONCLUSIONS
Compound heterozygous patients show no more than mild liver iron loading. The decision whether or not to recommend liver biopsy in C282Y/H63D patients with abnormal serum iron indices and/or liver function tests should be based on the need to evaluate liver damage rather than solely to assess liver iron loading.
Lim
Ee Mun
EM
Department of Clinical Biochemistry, PathCentre Western Australian Centre for Pathology and Medical Research, Nedlands, WA, Australia.
Rossi
Enrico
E
De Boer
W Bastiaan
WB
Reed
William D
WD
Jeffrey
Gary P
GP
D000328:Adult; D017677:Age Distribution; D000368:Aged; D001315:Australia / Q000453:epidemiology; D015415:Biomarkers / Q000032:analysis; D001707:Biopsy, Needle; D015331:Cohort Studies; D003430:Cross-Sectional Studies; D018450:Disease Progression; D005260:Female; D006432:Hemochromatosis / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007150:Immunohistochemistry; D019190:Iron Overload / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D008107:Liver Diseases / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D015995:Prevalence; D012189:Retrospective Studies; D018570:Risk Assessment; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index; D017678:Sex Distribution
D015415:Biomarkers; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins