Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis
10.1182/blood.v100.2.692
Crossref journal-article
American Society of Hematology
Blood (234)
Abstract

Abstract Hemochromatosis is a common disorder characterized by excess iron absorption and accumulation of iron in tissues. Usually hemochromatosis is inherited in an autosomal recessive pattern and is caused by mutations in the HFE gene. Less common non-HFE–related forms of hemochromatosis have been reported and are caused by mutations in the transferrin receptor 2 gene and in a gene localized to chromosome 1q. Autosomal dominant forms of hemochromatosis have also been described. Recently, 2 mutations in theferroportin1 gene, which encodes the iron transport protein ferroportin1, have been implicated in families with autosomal dominant hemochromatosis from the Netherlands and Italy. We report the finding of a novel mutation (V162del) in ferroportin1 in an Australian family with autosomal dominant hemochromatosis. We propose that this mutation disrupts the function of the ferroportin1 protein, leading to impaired iron homeostasis and iron overload.

Bibliography

Wallace, D. F., Pedersen, P., Dixon, J. L., Stephenson, P., Searle, J. W., Powell, L. W., & Subramaniam, V. N. (2002). Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis. Blood, 100(2), 692–694.

Authors 7
  1. Daniel F. Wallace (first)
  2. Palle Pedersen (additional)
  3. Jeannette L. Dixon (additional)
  4. Peter Stephenson (additional)
  5. Jeffrey W. Searle (additional)
  6. Lawrie W. Powell (additional)
  7. V. Nathan Subramaniam (additional)
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Dates
Type When
Created 22 years, 11 months ago (Oct. 1, 2002, 1:48 p.m.)
Deposited 5 years, 6 months ago (Feb. 12, 2020, 2:34 p.m.)
Indexed 1 month ago (July 30, 2025, 8:22 p.m.)
Issued 23 years, 1 month ago (July 15, 2002)
Published 23 years, 1 month ago (July 15, 2002)
Published Print 23 years, 1 month ago (July 15, 2002)
Funders 0

None

@article{Wallace_2002, title={Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis}, volume={100}, ISSN={0006-4971}, url={http://dx.doi.org/10.1182/blood.v100.2.692}, DOI={10.1182/blood.v100.2.692}, number={2}, journal={Blood}, publisher={American Society of Hematology}, author={Wallace, Daniel F. and Pedersen, Palle and Dixon, Jeannette L. and Stephenson, Peter and Searle, Jeffrey W. and Powell, Lawrie W. and Subramaniam, V. Nathan}, year={2002}, month=jul, pages={692–694} }