Prevalence of HFE mutations and relation to serum iron status in patients with chronic hepatitis C and patients with nonalcoholic fatty liver disease in Taiwan.
OBJECTIVE
To assess the prevalence of the two mutations, C282Y and H63D of HFE gene, in healthy subjects, patients with chronic hepatitis C (CHC), and patients with nonalcoholic fatty liver disease (NAFLD) in Taiwan and to explore the contribution of the HFE mutation on serum iron stores in CHC and NAFLD groups.


METHODS
We examined C282Y and H63D mutations of HFE gene in 125 healthy subjects, 29 patients with CHC, and 33 patients with NAFLD. The serum iron markers, including ferritin, iron, and total iron binding capacity (TIBC), were assessed in all patients.


RESULTS
All of the healthy subjects and patients were free from C282Y mutation. The prevalence of H63D heter-ozygosity was 4/125 (3.20%) in healthy subjects, 2/29 (6.90%) in CHC group, and 1/33 (3.03%) in NAFLD group. The healthy subjects showed no significant difference in the prevalence of H63D mutation as compared with the CHC or NAFLD group. Increased serum iron store was found in 34.48% of CHC patients and 36.36% of NAFLD patients. In three patients of H63D heterozygosity, only one CHC patient had increased serum iron store. There was no significant difference in the prevalence of HFE mutations between patients with increased serum iron store and those without in CHC or NAFLD group.


CONCLUSIONS
The HFE mutations may not contribute to iron accumulation in the CHC or NAFLD group even when serum iron overload is observed in more than one-third of these patients in Taiwan.
Division of Gastroenterology, Department of Internal Medicine, Taipei Municipal Jen-Ai Hospital, 5F, No. 52, Lane 240, Guangfu S. Road, Da-an District Taipei City 106, Taiwan, China.
Tsung-Jung
TJ
Lin
Chih-Lin
CL
Lin
Chaur-Shine
CS
Wang
Shu-O
SO
Liu
Li-Ying
LY
Liao
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D005234:Fatty Liver / Q000097:blood / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D000071020:Hemochromatosis Protein; D019698:Hepatitis C, Chronic / Q000097:blood / Q000235:genetics*; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000097:blood*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D013624:Taiwan
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron