Accuracy of family history of hemochromatosis or iron overload: The Hemochromatosis and Iron Overload Screening Study

被引：9

作者：

Acton, Ronald T. ^{[1
,2
,3
,4
,5
]}

Barton, James C. ^{[6
]}

Passmore, Leah V. ^{[7
]}

Adams, Paul C. ^{[8
]}

Mclaren, Gordon D. ^{[9
,10
]}

Leiendecker-Foster, Catherine ^{[11
]}

Speechley, Mark R. ^{[12
]}

Harris, Emily L. ^{[13
]}

Castro, Oswaldo ^{[15
]}

Reiss, Jacob A. ^{[16
]}

Snively, Beverly M. ^{[7
]}

Harrison, Barbara W. ^{[14
]}

Mclaren, Christine E. ^{[17
]}

机构：

[1] Univ Alabama, Dept Microbiol, Birmingham, AL 35209 USA

[2] Univ Alabama, Dept Med, Birmingham, AL 35209 USA

[3] Univ Alabama, Dept Genet, Birmingham, AL 35209 USA

[4] Univ Alabama, Dept Epidemiol, Birmingham, AL 35209 USA

[5] Univ Alabama, Dept Int Hlth, Birmingham, AL 35209 USA

[6] So Iron Disorders Ctr, Birmingham, AL USA

[7] Wake Forest Univ, Bowman Gray Sch Med, Dept Publ Hlth Sci, Winston Salem, NC 27103 USA

[8] London Hlth Sci Ctr, Dept Med, London, ON, Canada

[9] Vet Affairs Long Beach Healthcare Syst, Long Beach, CA USA

[10] Univ Calif Irvine, Dept Med, Div Hematol Oncol, Irvine, CA 92717 USA

[11] Univ Minnesota, Dept Lab Med & Pathol, Minneapolis, MN 55455 USA

[12] Univ Western Ontario, Dept Epidemiol & Biostat, London, ON, Canada

[13] NHGRI, NIH, Dept Hlth & Human Serv, Bethesda, MD 20892 USA

[14] Howard Univ, Div Med Genet, Washington, DC 20059 USA

[15] Howard Univ, Dept Med, Washington, DC 20059 USA

[16] Kaiser Permanente NW, Dept Genet, Portland, OR USA

[17] Univ Calif Irvine, Dept Med, Div Epidemiol, Irvine, CA 92717 USA

来源：

CLINICAL GASTROENTEROLOGY AND HEPATOLOGY | 2008年 / 6卷 / 08期

关键词：

D O I：

10.1016/j.cgh.2008.04.003

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

Background & Aims: 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.

引用

页码：934 / 938

页数：5

共 31 条

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