Congenital dyserythropoietic anemia type 1 with fetal onset of severe anemia

Keisuke Kato, Masahiro Sugitani, Motoyoshi Kawataki, Makiko Ohyama, Noriko Aida, Noriko Koga, Rieko Ijiri, Kiyoshi Imaizumi, Hisato Kigasawa, Yukichi Tanaka, Yasufumi Itani

Research output: Contribution to journalArticlepeer-review

13 Citations (Scopus)


We report a patient with congenital dyserythropoietic anemia type 1 with characteristic anomalies and two novel clinicopathologic presentations: intrauterine onset of severe anemia resulting in cardiac failure and relatively mild dyserythropoietic features on bone marrow aspiration in contrast to severity of anemia. After repeated transfusions and a trial of erythropoietin administration, the patient died from respiratory infection at age 7 months. Autopsy revealed characteristic dyserythropoietic features of the bone marrow by light microscopy and electron microscopy, which confirmed a diagnosis of congenital dyserythropoietic anemia type 1.

Original languageEnglish
Pages (from-to)63-66
Number of pages4
JournalAmerican Journal of Pediatric Hematology/Oncology
Issue number1
Publication statusPublished - 2001 Jan 1


  • Congenital dyserythropoietic anemia
  • Congenital heart failure
  • Fetal onset

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology


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