title: CDAII presenting as hydrops foetalis: molecular characterization of two cases.
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.
authors.affiliation: UO Ematologia 2, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milano, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Fermo
authors.forename: Paola
authors.initials: P
authors.lastname: Bianchi
authors.forename: Lucia Dora
authors.initials: LD
authors.lastname: Notarangelo
authors.forename: Silvana
authors.initials: S
authors.lastname: Binda
authors.forename: Cristina
authors.initials: C
authors.lastname: Vercellati
authors.forename: Anna Paola
authors.initials: AP
authors.lastname: Marcello
authors.forename: Carla
authors.initials: C
authors.lastname: Boschetti
authors.forename: Wilma
authors.initials: W
authors.lastname: Barcellini
authors.forename: Alberto
authors.initials: A
authors.lastname: Zanella
mesh_terms: D000293:Adolescent; D000742:Anemia, Dyserythropoietic, Congenital / Q000150:complications* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006403:Hematologic Tests; D006801:Humans; D015160:Hydrops Fetalis / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation; D011247:Pregnancy; D033921:Vesicular Transport Proteins / Q000235:genetics*
chemical_list: C543353:SEC23B protein, human; D033921:Vesicular Transport Proteins