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Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.

Human mutation - 1 Sept 2009

Bianchi Paola, Fermo Elisa, Vercellati Cristina, Boschetti Carla, Barcellini Wilma, Iurlo Alessandra, Marcello Anna Paola, Righetti Pier Giorgio, Zanella Alberto

Abstract excerpt

Congenital dyserythropoietic anemia type II (CDAII) is an autosomal recessive disease characterized by ineffective erythropoiesis, hemolysis, erythroblast morphological abnormalities, and hypoglycosylation of some red blood cell (RBC) membrane proteins. Recent studies indicated that CDAII is caused by a defect disturbing Golgi processing in erythroblasts. A linkage analysis located a candidate region on...

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PMID: 19621418
DOI: 10.1002/humu.21077

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.PMID 19621418Read ↗

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