The first studies of iron in human tissues were published more than 160 years ago
and those of iron overload more than 140 years ago. Through the early 20th century,
few scientists and physicians explored this then unusual area of inquiry. Consequently,
discoveries were infrequent and often fortuitous. In the past 60 years, many basic
science and clinical investigators characterized the physiology of iron absorption
and metabolism and the heritable nature and clinical manifestations of hemochromatosis.
During the past 20 years, scientists defined the genetic and molecular basis of iron
homeostasis. Clinicians diagnosed patients and identified research participants whose
genetic and phenotypic diversity germane to iron-related disorders far exceeded most
earlier speculations. Herein, selected historical, scientific and clinical topics
about hemochromatosis and iron overload are succinctly reviewed. Some unanswered basic
research and clinical questions are posed in conclusion.
Key Indexing Terms
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Article info
Footnotes
Supported in part by the Southern Society of Clinical Investigation and by Southern Iron Disorders Center.
Presented as part of the Southern Society for Clinical Investigation’s Presidential Symposium at the Southern Regional Meeting, February 22, 2013, New Orleans, Louisiana.
The authors have no other conflicts of interest to disclose.
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© 2013 Southern Society for Clinical Investigation. Published by Elsevier Inc. All rights reserved.
