Accuracy of family history of hemochromatosis or iron overload: the hemochromatosis and iron overload screening study.
OBJECTIVE
The aim of this study was to assess the analytic validity of self-reported family history of hemochromatosis or iron overload.


METHODS
A total of 141 probands, 549 family members, and 641 controls participated in the primary care Hemochromatosis and Iron Overload Screening Study. Participants received a postscreening clinical examination and completed questionnaires about personal and family histories of hemochromatosis or iron overload, arthritis, diabetes, liver disease, and heart disease. We evaluated sensitivities and specificities of proband-reported family history, and concordance of HFE genotype C282Y/C282Y in probands and siblings who reported having hemochromatosis or iron overload.


RESULTS
The sensitivities of proband-reported family history ranged from 81.4% for hemochromatosis or iron overload to 18.4% for liver disease; specificities for diabetes, liver disease, and heart disease were greater than 94%. Hemochromatosis or iron overload was associated with a positive family history across all racial/ethnic groups in the study (odds ratio, 14.53; 95% confidence intervals, 7.41-28.49; P < .0001) and among Caucasians (odds ratio, 16.98; 95% confidence intervals, 7.53-38.32; P < .0001). There was 100% concordance of HFE genotype C282Y/C282Y in 6 probands and 8 of their siblings who reported having hemochromatosis or iron overload.


CONCLUSIONS
Self-reported family history of hemochromatosis or iron overload can be used to identify individuals whose risk of hemochromatosis or iron overload and associated conditions is increased. These individuals could benefit from further evaluation with iron phenotyping and HFE mutation analysis.
Acton
Ronald T
RT
Department of Microbiology, University of Alabama at Birmingham, Birmingham, Alabama 35209-0005, USA. acton@uab.edu
Barton
James C
JC
Passmore
Leah V
LV
Adams
Paul C
PC
McLaren
Gordon D
GD
Leiendecker-Foster
Catherine
C
Speechley
Mark R
MR
Harris
Emily L
EL
Castro
Oswaldo
O
Reiss
Jacob A
JA
Snively
Beverly M
BM
Harrison
Barbara W
BW
McLaren
Christine E
CE
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001168:Arthritis / Q000175:diagnosis; D016022:Case-Control Studies; D003920:Diabetes Mellitus / Q000175:diagnosis; D005260:Female; D005838:Genotype; D006331:Heart Diseases / Q000175:diagnosis; D006432:Hemochromatosis / Q000175:diagnosis*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D019190:Iron Overload / Q000175:diagnosis*; D008107:Liver Diseases / Q000175:diagnosis; D008297:Male; D008487:Medical History Taking / Q000706:statistics & numerical data*; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D011795:Surveys and Questionnaires
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins