Impact of hemochromatosis screening in patients with indeterminate results: the hemochromatosis and iron overload screening study.
OBJECTIVE
Assess the quality of life impact of receiving indeterminate test results for hemochromatosis, a disorder involving HFE genetic mutations and/or elevated serum transferrin saturation and ferritin.


METHODS
The study sample was from the Hemochromatosis and Iron Overload Screening Study, a large observational study of hemochromatosis among primary care patients in the US and Canada using HFE genotype and serum transferrin saturation and ferritin screening. Study subjects included 2,304 patients found with hemochromatosis risk of uncertain clinical significance. Assessed was SF-36 general health and emotional well-being before screening and six weeks after participants received their test results. Health worries were assessed after screening.


RESULTS
Of the study subjects, 1,268 participants (51.5%) completed both assessments. Compared to normal controls, those with HFE mutations or elevated serum transferrin saturation and ferritin levels of uncertain significance were more likely to report diminished general health and mental well-being, and more health worries. These effects were associated with participants' belief of having tested positive for hemochromatosis or iron overload.


CONCLUSIONS
Notification of indeterminate results from screening may be associated with mild negative effects on well-being, and might be a potential participant risk in screening programs for disorders with uncertain genotype-phenotype.
Anderson
Roger T
RT
Department of Public Health Sciences, Wake Forest University School of Medicine, Winston-Salem, NC 27157, USA.
Wenzel
Lari
L
Walker
Ann P
AP
Ruggiero
Andrea
A
Acton
Ronald T
RT
Hall
Mark A
MA
Tucker
Diane C
DC
Thomson
Elizabeth
E
Harrison
Barbara
B
Howe
Edmund
E
Holup
Joan
J
Leiendecker-Foster
Catherine
C
Power
Tara
T
Adams
Paul
P
D000328:Adult; D000368:Aged; D001294:Attitude to Health; D005006:Ethnicity; D005260:Female; D005820:Genetic Testing / Q000523:psychology*; D006432:Hemochromatosis / Q000235:genetics* / Q000523:psychology; D006801:Humans; D019190:Iron Overload / Q000175:diagnosis*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011788:Quality of Life; D012923:Social Class