Clinical and Laboratory ObservationsPostmortem Diagnosis of Diamond-Blackfan AnemiaBeauchamp-Nicoud, Anne MD*; Da Costa, Lydie MD*; Proust, Alexis*; Rincé, Patricia*; Saker, Safa MD†; Tchernia, Gil MD* Author Information From *CHU Kremlin-Bicêtre, Laboratoire d'Hématologie, Assistance Publique-Hôpitaux de Paris, Faculté de Médecine Paris XI, Le Kremlin-Bicêtre, France; and †Genethon, Center for Research and Applications on Gene Therapies, Evry, France. Received for publication April 1, 2004; accepted Oct. 4, 2004. Reprints: Anne Beauchamp-Nicoud, MD, Laboratoire d'Hématologie, Hôpital Bicêtre, 78 rue du Général Leclerc, 92375 Le Kremlin-Bicêtre Cedex, France (e-mail: [email protected]). Journal of Pediatric Hematology/Oncology: December 2004 - Volume 26 - Issue 12 - p 847-848 Buy 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. © 2004 Lippincott Williams & Wilkins, Inc.