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Article

Congenital dyserythropoietic anemia, type II with SEC23B exon 12 c.1385 A → G mutation, and pseudo-Gaucher cells in two siblings.

Hematology (Amsterdam, Netherlands) - 1 Mar 2015

Sharma Prashant, Das Reena, Bansal Deepak, Trehan Amita

Abstract excerpt

OBJECTIVE AND IMPORTANCE: Congenital dyserythropoietic anemia (CDA) represents a genotypically and phenotypically heterogeneous group of disorders. CDA type II, the most frequent variant, was recently shown to be caused by mutations in the gene encoding the secretory COPII component SEC23B. We report two siblings hailing from Punjab in northern India with classical CDA type II where this mutation was...

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Share to Anemia, Dyserythropoietic, Congenital
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24801240
DOI: 10.1179/1607845414Y.0000000166

Genes

CDA

Provenance

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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