Chapter

Hereditary hemochromatosis: population screening for gene mutations

Diana B. Petitti

in Human Genome Epidemiology, 2nd Edition

Published in print December 2009 | ISBN: 9780195398441
Published online May 2010 | e-ISBN: 9780199776023 | DOI: http://dx.doi.org/10.1093/acprof:oso/9780195398441.003.0032
 							Hereditary hemochromatosis: population screening for gene mutations

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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

Chapter.  6339 words. 

Subjects: Public Health and Epidemiology

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