Hemochromatosis and Iron Overload Screening (HEIRS) study design for an evaluation of 100,000 primary care-based adults.
BACKGROUND
The HEIRS Study will evaluate the prevalence, genetic and environmental determinants, and potential clinical, personal, and societal impact of hemochromatosis and iron overload in a multiethnic, primary care-based sample of 100,000 adults over a 5-year period. Participants are recruited from 5 Field Centers. Laboratory testing and data management and analysis are performed in a Central Laboratory and Coordinating Center, respectively.


METHODS
Participants undergo testing for serum iron measures and common mutations of the hemochromatosis gene ( ) on chromosome 6p and answer questions on demographics, health, and genetic testing attitudes. Participants with elevated values of transferrin saturation and serum ferritin and/or C282Y homozygosity are invited to undergo a comprehensive clinical examination (CCE), as are frequency-matched control subjects. These examinations provide data on personal and family medical history, lifestyle characteristics, physical examination, genetic counseling, and assessment of ethical, legal, and social implications. Primary and secondary causes of iron overload will be distinguished by clinical criteria. Iron overload will be confirmed by quantification of iron stores. Recruiting family members of cases will permit DNA analysis for additional genetic factors that affect iron overload.


RESULTS
Of the first 50,520 screened, 51% are white, 24% are African American, 11% are Asian, 11% are Hispanic, and 3% are of other, mixed, or unidentified race; 63% are female and 37% are male.


CONCLUSIONS
Information from the HEIRS Study will inform policy regarding the feasibility, optimal approach, and potential individual and public health benefits and risks of primary care-based screening for iron overload and hemochromatosis.
McLaren
Christine E
CE
Epidemiology Division, College of Medicine, University of California, Irvine 92697, USA.
Barton
James C
JC
Adams
Paul C
PC
Harris
Emily L
EL
Acton
Ronald T
RT
Press
Nancy
N
Reboussin
David M
DM
McLaren
Gordon D
GD
Sholinsky
Phyliss
P
Walker
Ann P
AP
Gordeuk
Victor R
VR
Leiendecker-Foster
Catherine
C
Dawkins
Fitzroy W
FW
Eckfeldt
John H
JH
Mellen
Beverly G
BG
Speechley
Mark
M
Thomson
Elizabeth
E
D000328:Adult; D001294:Attitude to Health; D005006:Ethnicity; D005260:Female; D005817:Genetic Counseling; D005838:Genotype; D006432:Hemochromatosis / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D007501:Iron / Q000097:blood*; D008297:Male; D008403:Mass Screening; D018579:Patient Selection; D010641:Phenotype; D011237:Predictive Value of Tests; D011320:Primary Health Care; D012107:Research Design; D011795:Surveys and Questionnaires
D007501:Iron