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Blood Cells Mol Dis. 2010 Jun 15;45(1):20-2. doi: 10.1016/j.bcmd.2010.03.005. Epub 2010 Apr 9.

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

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UO Ematologia 2, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milano, Italy.


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.

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