Could iron deposits in hepatocytes serve as a prognostic marker of HFE gene mutations?
OBJECTIVE
The diagnosis of hereditary hemochromatosis (HH) is based on qualitative measurement of tissue iron concentration and genetic tests. The aim of this study was to evaluate the correlation between the presence of iron deposits in the liver and the HFE gene mutations in patients with chronic liver diseases (CLD).


METHODS
The 182 patients, age range 18-71 years, were hospitalized in Gdansk because of CLD. The C282Y, H63D and S65C HFE mutations were screened by PCR-RFLP analysis. Liver function tests, serological examinations for viral hepatitis, serum iron and ferritin concentration and semiquantitative assessment of liver iron were done in all subjects. Patients were divided into Group A without iron deposits in the liver, and Group B with deposits. The most frequent etiology of CLD was chronic hepatitis C.


RESULTS
Biochemical parameters indicating iron storage and ALT activity were significantly higher in Group B. Either typical for diagnosis HH homozygotes C282Y/C282Y and combined heterozygotes C282Y/H63D or carriers of other HFE gene mutations were found significantly more frequently in Group B.


CONCLUSIONS
The finding of iron deposits in routinely obtained liver specimen correlates with occurrence of the different HFE gene mutations.
Sikorska
Katarzyna
K
Department of Infectious Diseases, Medical University of Gdansk, Gdansk, Poland. ksikorska@amg.gda.pl
Stalke
Piotr
P
Jaskiewicz
Kazimierz
K
Romanowski
Tomasz
T
Bielawski
Krzysztof Piotr
KP
D000293:Adolescent; D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D005260:Female; D006580:Genetic Carrier Screening; D006432:Hemochromatosis / Q000235:genetics* / Q000473:pathology; D000071020:Hemochromatosis Protein; D019698:Hepatitis C, Chronic / Q000235:genetics / Q000473:pathology; D022781:Hepatocytes / Q000378:metabolism* / Q000473:pathology; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000378:metabolism*; D008103:Liver Cirrhosis / Q000235:genetics / Q000473:pathology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length / Q000235:genetics; D011379:Prognosis
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron