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Disease Gene Identification pp 353–365Cite as

Identification of Genes for Hereditary Hemochromatosis

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Part of the book series: Methods in Molecular Biology ((MIMB,volume 1706))

Abstract

Hereditary hemochromatosis (HH) is one of the most common genetically transmitted conditions in individuals of Northern European ancestry. The disease is characterized by excessive intestinal absorption of dietary iron, resulting in pathologically high iron storage in tissues and organs. If left untreated, HH can damage joints and organs, and eventually lead to death. There are four main classes of HH, as well as five individual molecular subtypes, caused by mutations in five genes, and the approaches implemented in the discovery of each HH type have specific histories and unique aspects. In this chapter, we review the genetics of the different HH types, including the strategies used to detect the causal variants in each case and the manner in which genetic variants were found to affect iron metabolism.

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Author information

Authors and Affiliations

  1. Department of Medical Genetics and Molecular Biochemistry, 960 Medical Education and Research Building (MERB), Lewis Katz School of Medicine at Temple University, 3500 N. Broad Street, Philadelphia, PA, 19140, USA

    Glenn S. Gerhard

  2. Department of Medical Genetics and Molecular Biology, The Lewis Katz School of Medicine at Temple University, Philadelphia, PA, USA

    Barbara V. Paynton

  3. Translational Genomics Research Institute, Phoenix, AZ, USA

    Johanna K. DiStefano

Authors
  1. Glenn S. Gerhard
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  2. Barbara V. Paynton
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  3. Johanna K. DiStefano
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Corresponding author

Correspondence to Glenn S. Gerhard .

Editor information

Editors and Affiliations

  1. Translational Genomics Research Institute, Phoenix, Arizona, USA

    Johanna K. DiStefano

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Gerhard, G.S., Paynton, B.V., DiStefano, J.K. (2018). Identification of Genes for Hereditary Hemochromatosis. In: DiStefano, J. (eds) Disease Gene Identification. Methods in Molecular Biology, vol 1706. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-7471-9_19

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  • DOI: https://doi.org/10.1007/978-1-4939-7471-9_19

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  • Publisher Name: Humana Press, New York, NY

  • Print ISBN: 978-1-4939-7470-2

  • Online ISBN: 978-1-4939-7471-9

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