CDAII presenting as hydrops foetalis: Molecular characterization of two cases

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. (C) 2010 Elsevier Inc. All rights reserved.