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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 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 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 Heimpel, H. Articles by Kohne, E. Search for Related Content PubMed PubMed Citation Articles by Heimpel, H. Articles by Kohne, E. Related Collections Red Cells Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  RED CELLS Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation Hermann Heimpel, Klaus Schwarz, Monika Ebnöther, Jeroen S. 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 From the Abteilung für Innere Medizin III, Abteilung für Transfusionsmedizin, Abteilung für Biometrie, und Klinik für Kinder-und Jugendmedizin der Universität Ulm, Ulm, Germany; Universitätsspital Basel, Basel, Switzerland; Medizinische Universitätsklinik Zürich, Zürich, Switzerland; Hämatologische Fachpraxis Kiel, Kiel, Germany; Hämatologische Fachpraxis Lübeck, Lübeck, Germany; Universitätskinderklinik Münster, Münster, Germany; Universitätskinderklinik Freiburg, Freiburg, Germany; Medizinische Klinik Münsterlingen, Münsterlingen, Switzerland; Kantonsspital Luzern, Luzern, Switzerland; Center for Pediatric Hematology, Peta-Tiqua, Israel; and Hämatologische Fachpraxis Wendlingen, Wendlingen, Germany. 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 2 individuals. Four developed gallstones before the age of 30 years. Fifteen of 16 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 9 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 25 and 35 g/L (2.5 and 3.5 g/dL) 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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