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Article

Identification of a Novel Compound Heterozygous SEC23B in a Chinese Child with Congenital Dyserythropoietic Anemia Type II.

Hemoglobin - 1 Sept 2026

Li Ya-Fang, Huang Ti-Long, Zhang Tian-Yao, Song Chun-Yan, Shi Zhong-Yu, Lin Yun-Bi, Zhang Xian-Wen

Abstract excerpt

Congenital dyserythropoietic anemia type II (CDA II) is a rare hyporegenerative inherited anemia, resulting from a mutation in SEC23B. In the present case, our patient exhibited moderate anemia, jaundice, hepatosplenomegaly, tea-colored urine, hyperbilirubinemia, and iron overload. Whole exome sequencing revealed that the patient carried a compound heterozygous genotype in SEC23B consisting of a previously...

Read the complete abstract on PubMed

Topics

Female
Humans
Male
Anemia, Dyserythropoietic, Congenital
Exome Sequencing
Genotype

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Heterozygote

Mutation, Missense

Vesicular Transport Proteins

East Asian People

Source

Identifiers

PMID: 42547771
DOI: 10.1080/03630269.2026.2708944

Genes

SEC23B
CDA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 22 Oct 2026.

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Identification of a Novel Compound Heterozygous SEC23B in a Chinese Child with Congenital Dyserythropoietic Anemia Type II.PMID 42547771Read ↗

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.Semantic proximity Read ↗

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