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Blood, 15 November 2005, Vol. 106, No. 10, pp. 3625-3631.
Prepublished online as a Blood First Edition Paper on June 30, 2005; DOI 10.1182/blood-2005-01-0379.
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Submitted January 27, 2005
Accepted April 28, 2005
nm1054, a spontaneous, recessive, hypochromic, microcytic anemia mutation in the mouse
Robert S Ohgami, Dean R Campagna, Brendan Antiochos, Emily B Wood, John J Sharp, Jane E Barker, and Mark D Fleming*
Department of Pathology, Children's Hospital and Harvard Medical School, Boston, MA, USA
The Jackson Laboratory, Bar harbor, ME, USA
Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX, USA
* Corresponding author; email: mark.fleming{at}childrens.harvard.edu.
Hypochromic, microcytic anemias are typically the result of inadequate hemoglobin production due to globin defects or iron deficiency. Here, we describe the phenotypic characteristics and pathogenesis of a new recessive, hypochromic, microcytic anemia mouse mutant, nm1054. While nm1054 mutant is pleiotropic, also resulting in sparse hair, male infertility, failure to thrive, and hydrocephaly, the anemia is the focus of this study. Hematological analysis reveals a moderately severe, congenital, hypochromic, microcytic anemia, with an elevated red cell zinc protoporphyrin, consistent with functional erythroid iron deficiency. However, serum and tissue iron analyses show that nm1054 animals are not systemically iron deficient. Based on hematopoietic stem cell transplantation, and iron uptake studies in nm1054 reticulocytes, we provide evidence that the nm1054 anemia is due to an intrinsic hematopoietic defect resulting in inefficient transferrin-dependent iron uptake by erythroid precursors. Linkage studies demonstrate that nm1054 maps to a genetic locus not previously implicated in microcytic anemia or iron phenotypes.
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