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Prepublished online as a Blood First Edition Paper on August 21, 2003; DOI 10.1182/blood-2003-02-0613. This Article Full Text (PDF) All Versions of this Article: 2003-02-0613v1 102/13/4576    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? Submitted February 25, 2003 Accepted August 6, 2003 Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation Hermann Heimpel*, Volker Anselstetter, Ladislav Chrobak, Jonas Denecke, Beate Einsiedler, Kerstin Gallmeier, Antje Griesshammer, Thorsten Marquardt, Gritta Janka-Schaub, Martina Kron, and Elisabeth Kohne Innere Medizin III, University of Ulm, Ulm, Germany Kinderklinik, University of Ulm, Ulm, Germany Hematology, Charles University, Hradec Kralove, Czech Republic Biometrie, University of Ulm, Ulm, Germany Kinderklinik, University of Muenster, Muenster, Germany Kinderklinik, University of Hamburg, Hamburg, Germany * Corresponding author; email: hermann.heimpel{at}medizin.uni-ulm.de. Congenital dyserythropoietic anemia type II (CDA II) is the most frequent type of congenital dyserythropoietic anemias. More than 200 cases have been described, but with the exception of a report by the international CDA II registry, these reports include only small numbers of cases and no data on the lifetime evolution of the disease. Since 1967, we were able to follow 48 cases of CDA II from 43 families for up to 35 years. All patients exhibit chronic anemia of variable severity requiring regular red cell transfusions only in a minority of children. 60% developed gallstones before the age of 30, and 16 patients had cholecystectomy between 8 and 34 years of age. Iron overload was a frequent complication. In 16 cases iron depletion was started between 7 and 36 years. Three patients died from secondary hemochromatosis. Splenectomy, performed in 22 cases, led to moderate increases in hemoglobin values and eliminated the need for transfusions but did not prevent further iron loading. The current recommendation is to consider splenectomy if the anemia is severe and compromises patients' performance, and to manage iron overload according to the guidelines derived from patients with thalassemia. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: E. Zdebska, A. Iolascon, J. Spychalska, S. Perrotta, C. Lanzara, G. Smolenska-Sym, and J. Koscielak Abnormalities of erythrocyte glycoconjugates are identical in two families with congenital dyserythropoietic anemia type II with different chromosomal localizations of the disease gene Haematologica, March 1, 2007; 92(3): 427 - 428. [Abstract] [Full Text] [PDF] H. Heimpel, K. Schwarz, M. Ebnother, J. S. Goede, D. Heydrich, T. Kamp, L. Plaumann, B. Rath, J. Roessler, O. Schildknecht, et al. Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation Blood, January 1, 2006; 107(1): 334 - 340. [Abstract] [Full Text] [PDF]

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