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Article

Compound heterozygosity for two novel mutations of the SEC23B gene in congenital dyserythropoietic anemia type II.

International journal of hematology - 1 Sept 2021

Chen Shanshan, Guo Ziwen, Ye Yongbin, Yang Shanhong, Huang Guinian

Abstract excerpt

Congenital dyserythropoietic anemia type II (CDA II), a rare genetic disorder, results from SEC23B gene mutations according to previous studies. Here, we present a case of CDA II involving two novel pathogenic mutations of SEC23B that have not previously been reported. The patient suffered from jaundice, tea-colored urine, and weakness. Laboratory data indicated moderately decreased hemoglobin, iron overload, and...

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Identifiers

PMID: 33914262
DOI: 10.1007/s12185-021-03155-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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