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This Article Full Text Full Text (PDF) 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 Iolascon, A. Articles by Camaschella, C. Search for Related Content PubMed PubMed Citation Articles by Iolascon, A. Articles by Camaschella, C. Related Collections Red Cells Brief Reports Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Blood, 15 August 2001, Vol. 98, No. 4, pp. 1258-1260 BRIEF REPORT Natural history of congenital dyserythropoietic anemia type II Achille Iolascon, Jean Delaunay, Sunitha N. Wickramasinghe, Silverio Perrotta, Maddalena Gigante, and Clara Camaschella From the Istituto di Pediatria, Università di Foggia e CISME-Dipartimento di Biomedicina dell'Età Evolutiva, Università di Bari, Italy; Service d'Hématologie, d'Immunologie et de Cytogénétique, Hôpital de Bicêtre, Assistance Publique-Hôpitaux de Paris, and INSERM U 473, Le Kremlin-Bicêtre, France; Nuffield Department of Clinical Laboratory Sciences, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom; Dipartimento di Pediatria, Seconda Università degli Studi di Napoli, Napoli, Italy; and Dipartimento di Scienze Cliniche e Biologiche, Università di Torino, Italy. Congenital dyserythropoietic anemia type II (CDA-II) is an autosomal recessive disease characterized by anemia, jaundice, splenomegaly, and erythroblast multinuclearity. The natural history of the disease is unknown. The frequency, the relevance of complications, and the use of splenectomy are poorly defined. This study examined 98 patients from unrelated families enrolled in the International Registry of CDA-II. Retrospective data were obtained using an appropriate questionnaire. The mean age at presentation was 5.2 ± 6.1 years. Anemia was present in 66% and jaundice in 53.4% of cases. The mean age at correct diagnosis was 15.9 ± 11.8 years. Twenty-three percent of patients for whom data were available developed anemia during the neonatal period, and 10 of these individuals required transfusions. Splenectomy produced an increased hemoglobin (P < .001) and a reduced bilirubin level (P = .007) in comparison with values before splenectomy. Preliminary data indicate that iron overload occurs irrespective of the hemochromatosis genotype. © 2001 by The American Society of Hematology.   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] H. Heimpel, V. Anselstetter, L. Chrobak, J. Denecke, B. Einsiedler, K. Gallmeier, A. Griesshammer, T. Marquardt, G. Janka-Schaub, M. Kron, et al. Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation Blood, December 15, 2003; 102(13): 4576 - 4581. [Abstract] [Full Text] [PDF] S. Perrotta, L. Luzzatto, M. Carella, and A. Iolascon Congenital dyserythropoietic anemia type II in human patients is not due to mutations in the erythroid anion exchanger 1 Blood, October 1, 2003; 102(7): 2704 - 2705. [Full Text] [PDF] J. Milledge, P. J. Shaw, A. Mansour, S. Williamson, B. Bennetts, T. Roscioli, J. Curtin, and J. Christodoulou Allogeneic bone marrow transplantation: cure for familial Mediterranean fever Blood, July 18, 2002; 100(3): 774 - 777. [Abstract] [Full Text] [PDF]

	Copyright © 2001 by American Society of Hematology         Online ISSN: 1528-0020