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  • Title: CDAII presenting as hydrops foetalis: molecular characterization of two cases.
    Author: Fermo E, Bianchi P, Notarangelo LD, Binda S, Vercellati C, Marcello AP, Boschetti C, Barcellini W, Zanella A.
    Journal: Blood Cells Mol Dis; 2010 Jun 15; 45(1):20-2. PubMed ID: 20381388.
    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.
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