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Article

Identification of a novel splice variant in SEC23B gene in a patient with concomitant presence of congenital dyserythropoietic anemia II and Gilbert's syndrome.

Hematology (Amsterdam, Netherlands) - 1 Dec 2024

Jang Woori, Ha Dong Jun, Nahm Chung Hyun, Park Jisun, Kim Su Jin, Lee Ji-Eun, Moon Yeonsook

Abstract excerpt

BACKGROUND: Congenital dyserythropoietic anemia Ⅱ (CDA Ⅱ) is a rare inherited disorder of defective erythropoiesis caused by SEC23B gene mutation. CDA Ⅱ is often misdiagnosed as a more common type of clinically related anemia, or it remains undiagnosed due to phenotypic variability caused by the coexistence of inherited liver diseases, including Gilbert's syndrome (GS) and hereditary hemochromatosis. METHODS: We...

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PMID: 38655690
DOI: 10.1080/16078454.2024.2343163

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