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Article

New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II.

International journal of molecular sciences - 9 Jun 2023

Musri Melina Mara, Venturi Veronica, Ferrer-Cortès Xènia, Romero-Cortadellas Lídia, Hernández Gonzalo, Leoz Pilar, Ricard Andrés María Pilar, Morado Marta, Fernández Valle María Del Carmen, Beneitez Pastor David, Ortuño Cabrero Ana, Moreno Gamiz Maite, Senent Peris Leonor, Perez-Valencia Amanda Isabel, Pérez-Montero Santiago, Tornador Cristian, Sánchez Mayka

Abstract excerpt

Congenital dyserythropoietic anemia type II (CDA II) is an inherited autosomal recessive blood disorder which belongs to the wide group of ineffective erythropoiesis conditions. It is characterized by mild to severe normocytic anemia, jaundice, and splenomegaly owing to the hemolytic component. This often leads to liver iron overload and gallstones. CDA II is caused by biallelic mutations in the SEC23B gene. In...

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PMID: 37373084
DOI: 10.3390/ijms24129935
PMCID: PMC10298408

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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