title: Postmortem diagnosis of Diamond-Blackfan anemia.
abstract: 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.
authors.affiliation: CHU Kremlin-Bicêtre, Laboratoire d'Hématologie, Hopital Bicêtre, 78 rue Général Leclerc, 92375 Le Kremlin-Bicêtre, France. anne.beauchamp_nicoud@caramail.com
authors.forename: Anne
authors.initials: A
authors.lastname: Beauchamp-Nicoud
authors.forename: Lydie
authors.initials: L
authors.lastname: Da Costa
authors.forename: Alexis
authors.initials: A
authors.lastname: Proust
authors.forename: Patricia
authors.initials: P
authors.lastname: Rincé
authors.forename: Safa
authors.initials: S
authors.lastname: Saker
authors.forename: Gil
authors.initials: G
authors.lastname: Tchernia
mesh_terms: 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
chemical_list: D006454:Hemoglobins; D012269:Ribosomal Proteins; C040343:ribosomal protein S19; D004247:DNA