Postmortem diagnosis of Diamond-Blackfan anemia

J Pediatr Hematol Oncol. 2004 Dec;26(12):847-8.

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.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Diamond-Blackfan / diagnosis*
  • Anemia, Diamond-Blackfan / pathology
  • Anemia, Neonatal / pathology*
  • Anemia, Neonatal / therapy
  • Autopsy
  • DNA / analysis
  • DNA Mutational Analysis
  • Erythrocyte Transfusion
  • Fatal Outcome
  • Female
  • Hemoglobins / analysis
  • Humans
  • Infant
  • Infant, Newborn
  • Ribosomal Proteins / analysis

Substances

  • Hemoglobins
  • Ribosomal Proteins
  • ribosomal protein S19
  • DNA