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Blood, 1 September 2004, Vol. 104, No. 5, pp. 1511-1518. Prepublished online as a Blood First Edition Paper on May 20, 2004; DOI 10.1182/blood-2004-01-0076. This Article Full Text Full Text (PDF) All Versions of this Article: 2004-01-0076v1 104/5/1511    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by White, R. A. Articles by Shimizu, K. Search for Related Content PubMed PubMed Citation Articles by White, R. A. Articles by Shimizu, K. Related Collections Hematopoiesis and Stem Cells Red Cells Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  RED CELLS Chromosomal localization, hematologic characterization, and iron metabolism of the hereditary erythroblastic anemia (hea) mutant mouse Robert A. White, Steven G. McNulty, Shelly Roman, Uttam Garg, Eric Wirtz, Deanna Kohlbrecher, Ndona N. Nsumu, David Pinson, Roger Gaedigk, Krista Blackmore, Angela Copple, Sidrah Rasul, Masayo Watanabe, and Koji Shimizu From Medical Research, Children's Mercy Hospitals and Clinics, University of Missouri Kansas City, Kansas City, MO; University of Kansas Medical Center, Kansas City, KS; and Naruto University of Education, Naruto, Japan. Understanding iron metabolism has been enhanced by identification of genes for iron deficiency mouse mutants. We characterized the genetics and iron metabolism of the severe anemia mutant hea (hereditary erythroblastic anemia), which is lethal at 5 to 7 days. The hea mutation results in reduced red blood cell number, hematocrit, and hemoglobin. The hea mice also have elevated Zn protoporphyrin and serum iron. Blood smears from hea mice are abnormal with elevated numbers of smudge cells. Aspects of the hea anemia can be transferred by hematopoietic stem cell transplantation. Neonatal hea mice show a similar hematologic phenotype to the flaky skin (fsn) mutant. We mapped the hea gene near the fsn locus on mouse chromosome 17 and show that the mutants are allelic. Both tissue iron overloading and elevated serum iron are also found in hea and fsn neonates. There is a shift from iron overloading to iron deficiency as fsn mice age. The fsn anemia is cured by an iron-supplemented diet, suggesting an iron utilization defect. When this diet is removed there is reversion to anemia with concomitant loss of overloaded iron stores. We speculate that the hea/fsn gene is required for iron uptake into erythropoietic cells and for kidney iron reabsorption. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: S. Takabayashi, S. Iwashita, T. Hirashima, and H. Katoh The Novel Tetratricopeptide Repeat Domain 7 Mutation, Ttc7fsn-Jic, with Deletion of the TPR-2B Repeat Causes Severe Flaky Skin Phenotype Experimental Biology and Medicine, May 1, 2007; 232(5): 695 - 699. [Abstract] [Full Text] [PDF] C. Helms, S. Pelsue, L. Cao, E. Lamb, B. Loffredo, P. Taillon-Miller, B. Herrin, L. M. Burzenski, B. Gott, B. L. Lyons, et al. The Tetratricopeptide Repeat Domain 7 Gene Is Mutated in Flaky Skin Mice: A Model for Psoriasis, Autoimmunity, and Anemia Experimental Biology and Medicine, October 1, 2005; 230(9): 659 - 667. [Abstract] [Full Text] [PDF]

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