Critical Diamond–Blackfan anemia due to ribosomal protein S19 missense mutation

Shuichi Ozono, Miho Mitsuo, Maiko Noguchi, Shin ichiro Nakagawa, Koichiro Ueda, Hiroko Inada, Shouichi Ohga, Etsuro Ito

Research output: Contribution to journalComment/debatepeer-review

3 Citations (Scopus)


Diamond–Blackfan anemia (DBA) is a rare congenital disorder characterized by pure erythrocyte aplasia, and approximately 70% of patients carry mutations in the genes encoding ribosomal proteins (RP). Here, we report the case of a male infant with DBA who presented with anemic crisis (hemoglobin [Hb] concentration 1.5 g/dL) at 58 days after birth. On admission, the infant was pale and had tachypnea, but recovered with intensive care, including red blood cell transfusions, and prednisolone. Based on the clinical diagnosis of DBA, the father of the infant had cyclosporine-A-dependent anemia. On analysis of RP genes when the infant was 6 months old, both the infant and the father, but not the mother, were found to harbor a mutation of RPS19 (c.167G > C, p. R56P). Therefore, genetic background search and early neonatal health check-ups are recommended for families with a history of inherited bone marrow failure syndromes.

Original languageEnglish
Pages (from-to)930-933
Number of pages4
JournalPediatrics International
Issue number9
Publication statusPublished - Sept 1 2016
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health


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