Congenital dyserythropoietic anemia type II in a newborn with a novel compound heterozygous mutation in the SEC23B: a case report and review of the literature-Reference-Cited by-同舟云学术

Congenital dyserythropoietic anemia type II in a newborn with a novel compound heterozygous mutation in the SEC23B: a case report and review of the literature

Published:2023-12-21 Issue:2 Volume:119 Page:210-214
ISSN:0925-5710
Container-title:International Journal of Hematology
language:en
Short-container-title:Int J Hematol

Author:

Zheng Jiajia,Gao Li,Liu Hu,Xiao Peifang,Lu Jun,Li Jie,Wu Shuiyan,Cheng Shengqin,Bian Xinni,Du Zhizhuo,Kong Lingjun,Hu Shaoyan,Fan Junjie^ORCID

Funder

suzhou Project

National Clinical Research Center for Hematological Disorders

Publisher

Springer Science and Business Media LLC

Subject

Hematology

Link

https://link.springer.com/content/pdf/10.1007/s12185-023-03676-x.pdf

Reference13 articles.

1. Iolascon A, Heimpel H, Wahlin A, Tamary H. Congenital dyserythropoietic anemias: molecular insights and diagnostic approach. Blood. 2013;122:2162–6.

2. Gambale A, Iolascon A, Andolfo I, Russo R. Diagnosis and management of congenital dyserythropoietic anemias. Expert Rev Hematol. 2016;9:283–96.

3. Bianchi P, Fermo E, Vercellati C, Boschetti C, Barcellini W, Iurlo A, et al. Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. Hum Mutat. 2009;30:1292–8.

4. Schwarz K, Iolascon A, Verissimo F, Trede NS, Horsley W, Chen W, et al. Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nat Genet. 2009;41:936–40.

5. Heimpel H, Anselstetter V, Chrobak L, Denecke J, Einsiedler B, Gallmeier K, et al. Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation. Blood. 2003;102:4576–81.

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