Case Report: Clinical management of a severe DBA patient with a novel RPS19 mutation

Case Report: Clinical management of a severe DBA patient with a novel RPS19 mutation

Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure disorder characterized by defective erythropoiesis, typically caused by mutations in ribosomal protein (RP) genes, most commonly RPS19. It usually presents in early infancy with severe anemia, growth retardation, and an increased...

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Bibliographic Details
Main Authors: Junfen Zhou, Jiayi Zhong, Yisha Zhao, Miaojun Mo, Xianbo Chen, Huangjia Zhou, Luya Zhang, Li Lin, Yichi Zhang, Xiaohong Tao, Xianhua Mao, Haiting Li, Enfu Tao
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-05-01
Series:Frontiers in Pediatrics
Subjects:
Diamond-Blackfan anemia
severe anemia
shock
ribosomal protein genes
metabolic acidosis
hemodynamic instability
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2025.1590183/full
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https://www.frontiersin.org/articles/10.3389/fped.2025.1590183/full

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