An open population screening study for HFE gene major mutations proves the low prevalence of C282Y mutation in Central Italy.
BACKGROUND
The C282Y mutation in the HFE gene is responsible for most cases of hereditary haemochromatosis.


OBJECTIVE
To investigate the allele frequency of HFE mutations and the associations between mutations and cases of iron overload or liver diseases in an open population of Central Italy.


METHODS
A total of 502 individuals over 8 years of age, comprising 203 males and 299 females, who were residents in Arsita (a small town in Central Italy), were assayed for: C282Y, H63D and S65C mutations of the HFE gene by TaqMan probes; body mass index, serum ferritin, transferrin saturation, transaminases, GGT, glucose, insulin, total cholesterol, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, triglycerides, HBV and HCV serum markers. Information was obtained on alcohol intake. Liver ultrasound was performed in 334 (67%) subjects.


RESULTS
The allele frequencies for C282Y, H63D and S65C were 2%, 15%, and 0.01%, respectively. C282Y/wt was found in 19 subjects (4%), H63D/wt in 127 (25%), H63D/H63D in 11 (2%) and S65C/wt in one (2.0 per thousand). No homozygosity for C282Y or compound mutation (C282Y/H63D) was found in the study population, but 27 subjects (5%) had TfSat >45% (including 10 subjects with high serum ferritin). Overall, 49 subjects (9.8%) were HCV-RNA-positive. Logistic regression analysis indicated that male gender (P = 0.000) and hepatic steatosis (P = 0.017) were independent variables correlating to a high serum ferritin.


CONCLUSIONS
C282Y HFE mutation is less frequent in Central Italy than in Northern Italy.
Department of Surgical and Gastroenterological Sciences, University of Padu, Via Giustiniani 2, 35128 Padua, Italy. annarosa.floreani@unipd.it
A
A
Floreani
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E
Rosa Rizzotto
D
D
Basso
F
F
Navaglia
M
M
Zaninotto
I
I
Petridis
O
O
DI Andrea
R
R
Testa
M
M
Marra
V
V
Baldo
M
M
Chiaramonte
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D005260:Female; D015870:Gene Expression; D005787:Gene Frequency / Q000235:genetics; D006432:Hemochromatosis / Q000151:congenital* / Q000453:epidemiology; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D019190:Iron Overload / Q000235:genetics*; D007558:Italy / Q000453:epidemiology; D008107:Liver Diseases / Q000453:epidemiology / Q000209:etiology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D011159:Population Surveillance; D015995:Prevalence
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins