Liver diseases in the hemochromatosis and iron overload screening study.
OBJECTIVE
The Hemochromatosis and Iron Overload Screening (HEIRS) Study screened 101,168 primary care participants for iron overload with serum transferrin saturation (TS), ferritin, and C282Y and H63D mutations of the HFE gene.


METHODS
All C282Y homozygotes and participants with an increased TS (>45% women, >50% men) and serum ferritin level (> 200 microg/L women, >300 microg/L men) were recalled for a clinical history and physical examination, and blood tests including alanine transaminase (ALT) and aspartate transaminase levels. Hepatitis B surface antigen and anti-hepatitis C virus were measured if the ALT level was increased (>31 IU/L in women, >40 IU/L in men).


RESULTS
In the group of participants selected to return for clinical examination because of increased TS and ferritin levels, ALT increases and anti-hepatitis C virus were found in 95 of 284 (33%) African Americans, 50 of 466 (11%) Asian and Pacific Islanders, 21 of 120 (18%) Hispanics, and 40 of 477 (8.4%) Caucasians. ALT increases and hepatitis B surface antigen were detected in 24 of 466 (5%) Asian and Pacific Islanders, 10 of 284 (3.5%) African Americans, 3 of 120 (2.5%) Hispanics, and 2 of 477 (.42%) Caucasians. Of 86 liver biopsy specimens obtained for clinical purposes, 53 were reviewed by a single study pathologist. Liver fibrosis (stage 3 or 4) was present in 2 of 11 (18.2%) C282Y homozygotes that underwent central review and 2 of 302 (.66%) C282Y homozygotes attending the clinical examination.


CONCLUSIONS
Screening for iron overload with ferritin and TS detects persons with viral hepatitis and other types of liver disease. A minimum of .66% C282Y homozygotes have liver fibrosis.
Adams
Paul C
PC
Department of Medicine, University Hospital, 339 Windermere Road, London, Ontario, Canada N6A 5A5. padams@uwo.ca
Passmore
Leah
L
Chakrabarti
Subrata
S
Reboussin
David M
DM
Acton
Ronald T
RT
Barton
James C
JC
McLaren
Gordon D
GD
Eckfeldt
John H
JH
Dawkins
Fitzroy W
FW
Gordeuk
Victor R
VR
Harris
Emily L
EL
Leiendecker-Foster
Catherine
C
Gossman
Elaine
E
Sholinsky
Phyliss
P
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D005293:Ferritins / Q000097:blood; D006432:Hemochromatosis / Q000097:blood / Q000150:complications* / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D008107:Liver Diseases / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D008111:Liver Function Tests; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D011320:Primary Health Care / Q000706:statistics & numerical data; D014168:Transferrin / Q000378:metabolism; D014481:United States
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014168:Transferrin; D005293:Ferritins