Literature DB >> 20381388

CDAII presenting as hydrops foetalis: molecular characterization of two cases.

Elisa Fermo1, Paola Bianchi, Lucia Dora Notarangelo, Silvana Binda, Cristina Vercellati, Anna Paola Marcello, Carla Boschetti, Wilma Barcellini, Alberto Zanella.   

Abstract

We report two patients with very severe congenital dyserythropoietic anemia presenting with hydrops foetalis, previously classified as "atypical" CDAs since they presented CDAII-like erythroblastic morphological features lacking other diagnostic CDAII markers. Molecular characterization of SEC23B gene, recently described as responsible of CDAII, revealed the presence of Glu109Lys/Arg701Cys and Glu109Lys/Cys66Tyr mutations, respectively. This finding leads to a re-classification of these cases and underlines phenotypic heterogeneity of CDAII, demonstrating for the first time that CDAII may be associated with hydrops foetalis and intrauterine death. Copyright 2010 Elsevier Inc. All rights reserved.

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Year:  2010        PMID： 20381388     DOI： 10.1016/j.bcmd.2010.03.005

Source DB:  PubMed          Journal:  Blood Cells Mol Dis        ISSN： 1079-9796            Impact factor:   3.039


  9 in total

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Authors:  Timothy J Satchwell; Stephanie Pellegrin; Paola Bianchi; Bethan R Hawley; Alexandra Gampel; Kathryn E Mordue; Annika Budnik; Elisa Fermo; Wilma Barcellini; David J Stephens; Emile van den Akker; Ashley M Toye
Journal:  Haematologica       Date:  2013-08-09       Impact factor: 9.941

Review 4.  The COPII pathway and hematologic disease.

Authors:  Rami Khoriaty; Matthew P Vasievich; David Ginsburg
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5.  Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.

Authors:  Roberta Russo; Maria Rosaria Esposito; Roberta Asci; Antonella Gambale; Silverio Perrotta; Ugo Ramenghi; Gian Luca Forni; Vedat Uygun; Jean Delaunay; Achille Iolascon
Journal:  Am J Hematol       Date:  2010-12       Impact factor: 10.047

6.  Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.

Authors:  Francesca Punzo; Aida M Bertoli-Avella; Saverio Scianguetta; Fulvio Della Ragione; Maddalena Casale; Luisa Ronzoni; Maria D Cappellini; Gianluca Forni; Ben A Oostra; Silverio Perrotta
Journal:  Orphanet J Rare Dis       Date:  2011-12-30       Impact factor: 4.123

7.  Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.

Authors:  Roberta Russo; Antonella Gambale; Maria Rosaria Esposito; Maria Luisa Serra; Annaelena Troiano; Ilaria De Maggio; Mario Capasso; Lucio Luzzatto; Jean Delaunay; Hannah Tamary; Achille Iolascon
Journal:  Am J Hematol       Date:  2011-09       Impact factor: 10.047

8.  Successful Allogeneic Hematopoietic Stem Cell Transplantation of a Patient Suffering from Type II Congenital Dyserythropoietic Anemia A Rare Case Report from Western India.

Authors:  Gaurang Modi; Sandip Shah; Irappa Madabhavi; Harsha Panchal; Apurva Patel; Urmila Uparkar; Asha Anand; Sonia Parikh; Kinnari Patel; Kamlesh Shah; Swaroop Revannasiddaiah
Journal:  Case Rep Hematol       Date:  2015-01-26

Review 9.  Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach.

Authors:  Achille Iolascon; Maria Rosaria Esposito; Roberta Russo
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  9 in total

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