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 journalArticle

16 Citations (Scopus)

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

Fingerprint

Edema
Congenital Dyserythropoietic Anemia
Mutation
Genes

Keywords

  • Congenital dyserythropoietic anemia type II
  • Hydrops foetalis
  • SEC23B

ASJC Scopus subject areas

  • Molecular Biology
  • Molecular Medicine
  • Hematology
  • Cell Biology

Cite this

CDAII presenting as hydrops foetalis : Molecular characterization of two cases. / Fermo, Elisa; Bianchi, Paola; Notarangelo, Lucia Dora; Binda, Silvana; Vercellati, Cristina; Marcello, Anna Paola; Boschetti, Carla; Barcellini, Wilma; Zanella, Alberto.

In: Blood cells, molecules & diseases, Vol. 45, No. 1, 06.2010, p. 20-22.

Research output: Contribution to journalArticle

@article{07d5d46db0514b7492db9dce9557a15b,
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.",
keywords = "Congenital dyserythropoietic anemia type II, Hydrops foetalis, SEC23B",
author = "Elisa Fermo and Paola Bianchi and Notarangelo, {Lucia Dora} and Silvana Binda and Cristina Vercellati and Marcello, {Anna Paola} and Carla Boschetti and Wilma Barcellini and Alberto Zanella",
year = "2010",
month = "6",
doi = "10.1016/j.bcmd.2010.03.005",
language = "English",
volume = "45",
pages = "20--22",
journal = "Blood Cells, Molecules, and Diseases",
issn = "1079-9796",
publisher = "Academic Press Inc.",
number = "1",

}

TY - JOUR

T1 - CDAII presenting as hydrops foetalis

T2 - Molecular characterization of two cases

AU - Fermo, Elisa

AU - Bianchi, Paola

AU - Notarangelo, Lucia Dora

AU - Binda, Silvana

AU - Vercellati, Cristina

AU - Marcello, Anna Paola

AU - Boschetti, Carla

AU - Barcellini, Wilma

AU - Zanella, Alberto

PY - 2010/6

Y1 - 2010/6

N2 - 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.

AB - 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.

KW - Congenital dyserythropoietic anemia type II

KW - Hydrops foetalis

KW - SEC23B

UR - http://www.scopus.com/inward/record.url?scp=77953128397&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=77953128397&partnerID=8YFLogxK

U2 - 10.1016/j.bcmd.2010.03.005

DO - 10.1016/j.bcmd.2010.03.005

M3 - Article

C2 - 20381388

AN - SCOPUS:77953128397

VL - 45

SP - 20

EP - 22

JO - Blood Cells, Molecules, and Diseases

JF - Blood Cells, Molecules, and Diseases

SN - 1079-9796

IS - 1

ER -