CDAII presenting as hydrops foetalis: Molecular characterization of two cases

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• 作者：Elisa Fermo ; Paola Bianchi ; Lucia Dora Notarangelo ; Silvana Binda ; Cristina Vercellati ; Anna Paola Marcello ; Carla Boschetti ; Wilma Barcellini ; Alberto Zanella
• 关键词：Congenital dyserythropoietic anemia type II ; SEC23B ; Hydrops foetalis
• 刊名：Blood Cells, Molecules, and Diseases
• 出版年：2010
• 出版时间：15 June 2010
• 年：2010
• 卷：45
• 期：1
• 页码：20-22
• 全文大小：188 K

文摘

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.