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Blood, 1 January 2006, Vol. 107, No. 1, pp. 334-340. Prepublished online as a Blood First Edition Paper on September 1, 2005; DOI 10.1182/blood-2005-01-0421. This Article Full Text (PDF) All Versions of this Article: 2005-01-0421v1 107/1/334    most recent Alert me when this article is cited Alert me if a correction is posted 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 Heimpel, H. Articles by Kohne, E. Search for Related Content PubMed PubMed Citation Articles by Heimpel, H. Articles by Kohne, E. Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted January 31, 2005 Accepted August 19, 2005 Congenital dyserythropoietic anemia type I (CDA I): Molecular genetics, clinical appearance and prognosis based on long-term observation Hermann Heimpel*, Klaus Schwarz, Monika Ebnother, Jeroen Goede, Detlev Heydrich, Torsten Kamp, Lothar Plaumann, Bettina Rath, Jochen Roessler, Otto Schildknecht, Mathias Schmid, Walter Wuillemin, Beate Einsiedler, Rosi Leichtle, Hannah Tamary, and Elisabeth Kohne Abteilung fur Innere Medizin III, Universitat Ulm, Ulm, Germany Abteilung fur Transfusionsmedizin, Universitat Ulm, Ulm, Germany Universitatsspital Basel, Basel, Switzerland Medizinische, Universitatsklinik Zurich, Zurich, Switzerland Hamatologische Fachpraxis, Lubeck, Germany Hamatologische Fachpraxis, Wendlingen, Germany Hamatologische Fachpraxis Kiel, Kiel, Germany Universitatskinderklinik Munster, Munster, Germany Universitatskinderklinik Freiburg, Freiburg, Germany Medizinische Klinik Munsterlingen, Munsterlingen, Switzerland Kantosspital, Luzern, Switzerland Abteilung fur Biometrie, Universitat Ulm, Ulm, Germany Center for Pediatric Hematology, Peta-Tiqua, Israel Klinik fur Kinder- und Jugendmedizin, Universitat Ulm, Ulm, Germany * Corresponding author; email: hermann.heimpel{at}medizin.uni-ulm.de. Congenital dyserythropoietic anemia type I (CDA I) is a rare autosomal recessive disorder with ineffective erythropoiesis and iron overloading. More than 100 cases have been described, but with the exception of a report on a large Bedouin tribe, these reports include only small numbers of cases and no data on the lifetime evolution of the disease are available. Since 1967, we have been able to follow 21 cases from 19 families for up to 37 years. Twenty-one patients with a confirmed diagnosis of CDA I exhibited chronic macrocytic anemia of variable severity requiring regular red cell transfusions only in two individuals. Four developed gallstones before the age of 30. Fifteen out of sixteen cases alive at the time of analysis showed mutations of at least one allele from exons 6 to 28 within CDAN1. Iron overloading is to be expected in all patients. In nine patients iron depletion was started between the ages of 7 and 36 years. Splenectomy, which was performed in 7 patients, did not result in improvement of hemoglobin values. Five patients were treated with Interferon -2a, and all responded with a rise in hemoglobin concentration of between 2.5 and 3.5 mg/ml starting within 4 weeks. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: A. Iolascon and J. Delaunay Close to unraveling the secrets of congenital dyserythropoietic anemia types I and II Haematologica, May 1, 2009; 94(5): 599 - 602. [Full Text] [PDF] S. Noy-Lotan, O. Dgany, R. Lahmi, N. Marcoux, T. Krasnov, N. Yissachar, D. Ginsberg, B. Motro, P. Resnitzky, I. Yaniv, et al. Codanin-1, the protein encoded by the gene mutated in congenital dyserythropoietic anemia type I (CDAN1), is cell cycle-regulated Haematologica, May 1, 2009; 94(5): 629 - 637. [Abstract] [Full Text] [PDF] H. Heimpel, E. Kohne, L. Schrod, K. Schwarz, and S. Wickramasinghe A new type of transfusion-dependent congenital dyserythropoietic anemia Haematologica, October 1, 2007; 92(10): 1427 - 1428. [Abstract] [Full Text] [PDF] M. R. Ahmed, A. Chehal, L. Zahed, A. Taher, J. Haidar, A. Shamseddine, A.-M. O'Hea, N. Bienz, O. Dgany, N. Avidan, et al. Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I Blood, June 15, 2006; 107(12): 4968 - 4969. [Full Text] [PDF]

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