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Article

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

Blood cells, molecules & diseases - 15 Jun 2010

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

Abstract excerpt

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...

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Identifiers

PMID: 20381388
DOI: 10.1016/j.bcmd.2010.03.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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