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Human Genome Epidemiology, 2nd EditionBuilding the evidence for using genetic information to improve health and prevent disease$
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Muin Khoury, Sara Bedrosian, Marta Gwinn, Julian Higgins, John Ioannidis, and Julian Little

Print publication date: 2009

Print ISBN-13: 9780195398441

Published to Oxford Scholarship Online: May 2010

DOI: 10.1093/acprof:oso/9780195398441.001.0001

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PRINTED FROM OXFORD SCHOLARSHIP ONLINE (oxford.universitypressscholarship.com). (c) Copyright Oxford University Press, 2021. All Rights Reserved. An individual user may print out a PDF of a single chapter of a monograph in OSO for personal use. date: 27 February 2021

Hereditary hemochromatosis: population screening for gene mutations

Hereditary hemochromatosis: population screening for gene mutations

(p.639) 32 Hereditary hemochromatosis: population screening for gene mutations
Human Genome Epidemiology, 2nd Edition

Diana B. Petitti

Oxford University Press

Hemochromatosis encompasses issues of importance to basic scientists, clinical researchers, clinicians, epidemiologists, public health professionals, and policy makers. Understanding its history, the evolution of our knowledge about it, and the current state of knowledge, provides rich insights into the genetics of disease and the complexity of the genetic determinants of disease and health in humans. This chapter discusses the discovery of hemochromatosis, the classification of hemochromatosis, population screening for mutations that cause hereditary hemochromatosis, and the selective screening of high-risk groups.

Keywords:   hemochromatosis, population screening, genetic mutation

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