Screening for iron overload: Lessons from the HEmochromatosis and IRon Overload Screening (HEIRS) Study

被引：24

作者：

Adams, Paul C. ^{[1
]}

Barton, James C. ^{[2
]}

McLaren, Gordon D. ^{[3
]}

Acton, Ronald T. ^{[5
]}

Speechley, Mark

McLaren, Christine E. ^{[4
]}

Reboussin, David M. ^{[6
]}

Leiendecker-Foster, Catherine ^{[7
,8
]}

Harris, Emily L. ^{[9
]}

Snively, Beverly M. ^{[6
]}

Vogt, Thomas ^{[10
]}

Sholinsky, Phyliss ^{[11
]}

Thomson, Elizabeth ^{[12
]}

Dawkins, Fitzroy W. ^{[13
]}

Gordeuk, Victor R. ^{[10
]}

Eckfeldt, John H. ^{[7
,8
]}

机构：

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

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

[3] VA Long Beach Healthcare Syst, Long Beach, CA USA

[4] Univ Calif Irvine, Dept Epidemiol, Irvine, CA 92717 USA

[5] Univ Alabama Birmingham, Dept Microbiol, Birmingham, AL 35294 USA

[6] Wake Forest Univ, Bowman Gray Sch Med, Div Publ Hlth Sci, Winston Salem, NC USA

[7] Univ Minnesota, Dept Lab Med, Minneapolis, MN 55455 USA

[8] Univ Minnesota, Dept Pathol, Minneapolis, MN 55455 USA

[9] Natl Inst Dent & Craniofacial Res, Translat Genom Res Branch, NIH, Dept Hlth & Human Serv, Bethesda, MD USA

[10] Kaiser Permanente Ctr Hlth Res, Honolulu, HI USA

[11] NHLBI, Dept Epidemiol & Biostat, Epidemiol Branch, Bethesda, MD 20892 USA

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

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

来源：

CANADIAN JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY | 2009年 / 23卷 / 11期

基金：

美国国家卫生研究院;

关键词：

Haemochromatosis; Hemochromatosis; HFE; Iron overload; HFE C282Y HOMOZYGOTES; HEREDITARY HEMOCHROMATOSIS; COST-EFFECTIVENESS; SERUM FERRITIN; POPULATION; PREVALENCE; HISTORY;

D O I：

10.1155/2009/839308

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

BACKGROUND: The HEmochromatosis and IRon Overload Screening (HEIRS) Study provided data on a racially, ethnically and geographically diverse cohort of participants in North America screened from primary care populations. METHODS: A total of 101,168 participants were screened by testing for HFE C282Y and H63D Mutations, and measuring serum ferritin concentration and transferrin saturation. In the present review, lessons from the HEIRS Study are highlighted in the context of the principles of screening for a medical disease as previously outlined by the World Health Organization. RESULTS: Genetic testing is well accepted, with minimal risk of discrimination. Transferrin saturation has high biological variability and relatively low sensitivity to detect HFE C282Y homozygotes, which limits its role as a screening rest. Symptoms attributable to HFE C282Y homozygosity are no more common in individuals identified by Population screening than in control subjects. CONCLUSIONS: Generalized Population screening in a primary care population as performed in the HEIRS Study is not recommended. There may be a role for focused screening ill Caucasian men, with some debate regarding genotyping followed by phenotyping, or phenotyping followed by genotyping.

引用

页码：769 / 772

页数：4

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