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Fetal-onset Congenital Dyserythropoietic Anemia Type 1 due to a Novel Mutation With Severe Iron Overload and Severe Cholestatic Liver Disease

Chin, Hui-Lin, MBBS, MMed (Paediatrics), MRCPCH (Singapore)*,†; Lee, Le Ye, MBBS, MMed (Paediatrics), MRCPCH (UK)*,†; Koh, Pei Lin, MBBS, MMed (Paediatrics), MRCPCH (UK)*,†

Journal of Pediatric Hematology/Oncology: January 2019 - Volume 41 - Issue 1 - p e51–e53
doi: 10.1097/MPH.0000000000001151
Online Articles: Clinical and Laboratory Observations

We report a rare case of severe congenital dyserythropoietic anemia type 1 with fetal onset. Our patient presented with fetal hydrops from 19 weeks of gestation, requiring multiple intrauterine transfusions. At birth, she had severe hemolytic anemia with severe jaundice, and was subsequently transfusion dependent. She eventually developed severe iron overload and fulminant liver failure before her demise at 5 months of age. Genetic testing revealed a novel mutation in CDAN1.

*Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore

Khoo Teck Puat-National University Children’s Medical Institute, National University Health System, Singapore, Singapore

H.-L.C.: wrote the manuscript. L.Y.L. and P.L.K.: edited the manuscript. P.L.K.: provided the photographs and micrographs.

Written consent from the patient’s parents to publish this case report was obtained.

Ethics approval was obtained for the publication of this case report.

The authors declare no conflict of interest.

Reprints: Hui-Lin Chin, MBBS, MMed (Paediatrics), MRCPCH (Singapore), Department of Paediatrics, National University Hospital, 5 Lower Kent Ridge Road, Singapore 119074, Singapore (e-mail: Hui-lin_Chin@nuhs.edu.sg).

Received July 29, 2017

Accepted December 13, 2017

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