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Blood, 15 January 2007, Vol. 109, No. 2, pp. 811-818. Prepublished online as a Blood First Edition Paper on September 26, 2006; DOI 10.1182/blood-2006-04-014142. This Article Full Text Full Text (PDF) All Versions of this Article: blood-2006-04-014142v1 109/2/811    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 Lyoumi, S. Articles by Puy, H. Search for Related Content PubMed PubMed Citation Articles by Lyoumi, S. Articles by Puy, H. Related Collections Red Cells Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  RED CELLS Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice Saïd Lyoumi1, Marie Abitbol2, Valérie Andrieu3, Dominique Henin4, Elodie Robert5, Caroline Schmitt1, Laurent Gouya1, Hubert de Verneuil5, Jean-Charles Deybach1, Xavier Montagutelli2, Carole Beaumont1,, and Hervé Puy1 1 Institut National de la Santé et de la Recherche Médicale (INSERM) Unité (U) 773, Centre de Recherche Biomédicale Bichat Beaujon CRB3, Paris; Université Paris 7 Denis Diderot; and Centre Français des Porphyries, Hôpital Louis Mourier, Colombes, France; 2 Institut Pasteur, Unité de Génétique des Mammifères, Paris, France; Assistance Publique–Hôpitaux de Paris (AP-HP), Hôpital Bichat, 3 Laboratoire d'hématologie and 4 Laboratoire d'anatomo-pathologie, Paris, France; 5 INSERM E0217 and Université V Segalen Bordeaux 2, Bordeaux, France Patients with deficiency in ferrochelatase (FECH), the last enzyme of the heme biosynthetic pathway, experience a painful type of skin photosensitivity called erythropoietic protoporphyria (EPP), which is caused by the excessive production of protoporphyrin IX (PPIX) by erythrocytes. Controversial results have been reported regarding hematologic status and iron status of patients with EPP. We thoroughly explored these parameters in Fechm1Pas mutant mice of 3 different genetic backgrounds. FECH deficiency induced microcytic hypochromic anemia without ringed sideroblasts, little or no hemolysis, and no erythroid hyperplasia. Serum iron, ferritin, hepcidin mRNA, and Dcytb levels were normal. The homozygous Fechm1Pas mutant involved no tissue iron deficiency but showed a clear-cut redistribution of iron stores from peripheral tissues to the spleen, with a concomitant 2- to 3-fold increase in transferrin expression at the mRNA and the protein levels. Erythrocyte PPIX levels strongly correlated with serum transferrin levels. At all stages of differentiation in our study, transferrin receptor expression in bone marrow erythroid cells in Fechm1Pas was normal in mutant mice but not in patients with iron-deficiency anemia. Based on these observations, we suggest that oral iron therapy is not the therapy of choice for patients with EPP and that the PPIX–liver transferrin pathway plays a role in the orchestration of iron distribution between peripheral iron stores, the spleen, and the bone marrow. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: S. A. Holme, M. Worwood, A. V. Anstey, G. H. Elder, and M. N. Badminton Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria Blood, December 1, 2007; 110(12): 4108 - 4110. [Abstract] [Full Text] [PDF]

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