Screening for hemochromatosis: high prevalence and low morbidity in an unselected population of 65,238 persons.
BACKGROUND
Hereditary hemochromatosis (HH) is a common genetic disease leading to accumulation of iron in several organs, most notably the liver. The C282Y/C282Y mutation in the HFE gene is found in most cases. In order to prevent clinical disease and to study the cost and feasibility of screening, a large population was screened.


METHODS
In a Norwegian county, all inhabitants 20 years or older were invited to participate in a population-based health survey programme. Screening for HH was one of several subprojects. Blood samples were obtained from 65,238 persons. Subjects with high serum transferrin saturation in two tests and high serum ferritin were clinically evaluated for HH. All subjects with high serum transferrin saturation in two tests were offered genotyping.


RESULTS
HH was newly diagnosed in 92 women and 177 men. Phlebotomy treatment was performed in 64 women and 152 men. Severe organ damage (liver cirrhosis) was ascertained in only 4 men. We found no correlation between serum ferritin and age. The estimated cost was US$ 1.6 per subject screened and US$ 390 per newly discovered HH subject. The estimated prevalence of phenotypical HH not previously known was 0.34% in women and 0.68% in men. The prevalence of the C282Y/C282Y mutation was at least 0.68%.


CONCLUSIONS
Large-scale screening for HH can be performed at a relatively low cost if combined with a health survey programme. The yield in terms of newly discovered cases is considerable, but few cases were found seriously ill. Better knowledge of the natural course of HH is necessary if we are to be able to estimate the cost-effectiveness of large-scale screening.
Asberg
A
A
Dept. of Clinical Chemistry, Trondheim University Hospital, Norway. arne.asberg@rit.no
Hveem
K
K
Thorstensen
K
K
Ellekjter
E
E
Kannelønning
K
K
Fjøsne
U
U
Halvorsen
T B
TB
Smethurst
H B
HB
Sagen
E
E
Bjerve
K S
KS
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015415:Biomarkers / Q000097:blood; D001706:Biopsy; D003362:Cost-Benefit Analysis; D005260:Female; D005293:Ferritins / Q000032:analysis; D006432:Hemochromatosis / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D008099:Liver / Q000473:pathology; D008103:Liver Cirrhosis / Q000175:diagnosis / Q000473:pathology; D008297:Male; D008403:Mass Screening / Q000191:economics / Q000379:methods; D008875:Middle Aged; D009664:Norway / Q000453:epidemiology; D015995:Prevalence; D014168:Transferrin / Q000032:analysis
D015415:Biomarkers; D014168:Transferrin; D005293:Ferritins