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: Anne Beauchamp-Nicoud, Lydie Da Costa, Alexis Proust, Patricia Rincé, Safa Saker, Gil Tchernia
• Journal: Journal of pediatric hematology/oncology (J Pediatr Hematol Oncol) Vol. 26 Issue 12 Pg. 847-8 (Dec 2004) ISSN: 1077-4114 [Print] United States
• PMID: 15591911 (Publication Type: Case Reports, Journal Article)

Chemical References

• Hemoglobins
• Ribosomal Proteins
• ribosomal protein S19
• DNA

Topics

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