Open AccessCongenital Dyserythropoietic Anemia Type 1 With Fetal Onset of Severe Anemia
Author(s) -
Keisuke Kato,
Masahiro Sugitani,
Motoyoshi Kawataki,
Makiko Ohyama,
Noriko Aida,
Noriko Koga,
Rieko Ijiri,
Kiyoshi Imaizumi,
Hisato Kigasawa,
Yukichi Tanaka,
Yoshio Itani
Publication year - 2001
Publication title -
the american journal of pediatric hematology/oncology
Language(s) - English
Resource type - Journals
eISSN - 2331-4532
pISSN - 0192-8562
DOI - 10.1097/00043426-200101000-00016
Subject(s) - medicine , anemia , ineffective erythropoiesis , autopsy , bone marrow , erythropoietin , erythropoiesis , pathology
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.