CDAII presenting as hydrops foetalis: Molecular characterization of two cases

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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)20-22
Number of pages3
JournalBlood cells, molecules & diseases
Volume45
Issue number1
DOIs
Publication statusPublished - Jun 2010

Keywords

  • Congenital dyserythropoietic anemia type II
  • Hydrops foetalis
  • SEC23B

ASJC Scopus subject areas

  • Molecular Biology
  • Molecular Medicine
  • Hematology
  • Cell Biology

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