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Searching for the Hemochromatosis Grail

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Progress in Iron Research

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 356))

Abstract

The past few years have seen the identification of the molecular defects for many inherited disorders. Why then does the gene for hemochromatosis (HC), a very common disease, remain unknown? This particular search has advantages of availability of large pedigrees, preliminary chromosomal localization and some promising clues as to the biochemical defect. Indeed, with the explosion of activity in genome mapping, it is quite likely that the HC gene has already been cloned (albeit unwittingly) and partly sequenced -but alas not recognized. Until recently, the search has not attracted many participants; perhaps because of the continuing, but unwarranted, perception that HC is only a minor health concern. The smattering of small groups in HC research pales besides the armies mustered for other common disorders such as cystic fibrosis (CF) and Huntington’s disease with their consortia of clinicians, geneticists and molecular biologists. The identification of these genes was also facilitated by a more open exchange of published clones, probes and families This article discusses some of the practical and conceptual problems peculiar to the search for the HC gene.

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Authors and Affiliations

  1. Department of Biochemistry, Tufts Medical School, Boston, MA, 02025, USA

    Deepa Bhavsar, Yin Chen, Hong da Zheng & Jim Drysdale

Authors
  1. Deepa Bhavsar
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  2. Yin Chen
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  3. Hong da Zheng
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  4. Jim Drysdale
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Editor information

Editors and Affiliations

  1. Shaare Zedek Medical Center and Hebrew University of Jerusalem, Jerusalem, Israel

    Chaim Hershko

  2. The Hebrew University Hadassah Medical School, Jerusalem, Israel

    Abraham M. Konijn

  3. Albert Einstein College of Medicine, Bronx, New York, USA

    Philip Aisen

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© 1994 Springer Science+Business Media New York

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Bhavsar, D., Chen, Y., da Zheng, H., Drysdale, J. (1994). Searching for the Hemochromatosis Grail. In: Hershko, C., Konijn, A.M., Aisen, P. (eds) Progress in Iron Research. Advances in Experimental Medicine and Biology, vol 356. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-2554-7_35

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  • DOI: https://doi.org/10.1007/978-1-4615-2554-7_35

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4613-6090-2

  • Online ISBN: 978-1-4615-2554-7

  • eBook Packages: Springer Book Archive

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