Critical Diamond-Blackfan anemia due to ribosomal protein S19 missense mutation.
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.
Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan. ohzono_shyuuichi@kurume-u.ac.jp.|Developmental Neuroscience and Child Health, University of British Columbia, Vancouver, Canada. ohzono_shyuuichi@kurume-u.ac.jp.
Shuichi
S
Ozono
Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan.
Miho
M
Mitsuo
Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan.|Department of Pediatrics, National Hospital Organization Kyushu Cancer Center, Fukuoka, Japan.
Maiko
M
Noguchi
Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan.
Shin-Ichiro
S
Nakagawa
Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan.
Koichiro
K
Ueda
Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan.|Department of Pediatrics, Saga-ken Medical Center Koseikan, Saga, Japan.
Hiroko
H
Inada
Department of Pediatrics, Yamaguchi University Graduate School of Medicine, Yamaguchi, Japan.
Shouichi
S
Ohga
Department of Pediatrics, Hirosaki University Graduate School of Medicine, Aomori, Japan.
Etsuro
E
Ito
D029503:Anemia, Diamond-Blackfan / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D012269:Ribosomal Proteins / Q000235:genetics* / Q000378:metabolism
D004273:DNA, Neoplasm; D012269:Ribosomal Proteins; C040343:ribosomal protein S19
Diamond-Blackfan anemia; RPS19; anemic crisis; inherited bone marrow failure syndrome; mutation