Postmortem diagnosis of Diamond-Blackfan anemia.
Diamond-Blackfan anemia (DBA) is a rare etiology for congenital anemia, but this diagnosis should be considered when aregenerative hypoplastic anemia occurs in infancy. A term infant girl received a red blood cell transfusion at birth for neonatal anemia (hemoglobin 75 g/L) initially attributed to abruptio placentae. There were no additional investigations. Hemoglobin gradually decreased during the first 4 weeks of life, leading to severe anemia and death despite transfusions. A postmortem diagnosis of DBA was made by extraction of DNA collected on blood filter paper showing a deletion in RPS19 gene. Neonatal anemias should be carefully investigated and close follow-up should be performed during the first months of life, even if there is an obvious hemorrhagic etiology.
Beauchamp-Nicoud
Anne
A
CHU Kremlin-Bicêtre, Laboratoire d'Hématologie, Hopital Bicêtre, 78 rue Général Leclerc, 92375 Le Kremlin-Bicêtre, France. anne.beauchamp_nicoud@caramail.com
Da Costa
Lydie
L
Proust
Alexis
A
Rincé
Patricia
P
Saker
Safa
S
Tchernia
Gil
G
D029503:Anemia, Diamond-Blackfan / Q000175:diagnosis* / Q000473:pathology; D000751:Anemia, Neonatal / Q000473:pathology* / Q000628:therapy; D001344:Autopsy; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D017707:Erythrocyte Transfusion; D017809:Fatal Outcome; D005260:Female; D006454:Hemoglobins / Q000032:analysis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D012269:Ribosomal Proteins / Q000032:analysis
D006454:Hemoglobins; D012269:Ribosomal Proteins; C040343:ribosomal protein S19; D004247:DNA