Diamond-Blackfan Anemia: A Case Report and Review of the Literature

Kaitlyn M Dorn; Kaitlyn D Burns; Maija A R Trout; D Isum Ward; KayeLyn J Wagner; Lauritz R Meyer; Michelle L Baack; Rachel L Rodel

doi:10.1159/000516030

Diamond-Blackfan Anemia: A Case Report and Review of the Literature

Neonatology. 2021;118(4):500-504. doi: 10.1159/000516030. Epub 2021 May 18.

Authors

Kaitlyn M Dorn¹, Kaitlyn D Burns^{1

2

3}, Maija A R Trout^{1

3

4}, D Isum Ward^{2

5}, KayeLyn J Wagner^{2

5}, Lauritz R Meyer^{2

5}, Michelle L Baack^{2

5

6}, Rachel L Rodel^{1

4}

Affiliations

¹ Department of Obstetrics and Gynecology, University of South Dakota Sanford School of Medicine, Sioux Falls, South Dakota, USA.
² Sanford Children's Specialty Clinic, Sanford USD Medical Center, Sioux Falls, South Dakota, USA.
³ Department of Genetics, Augustana University, Sioux Falls, South Dakota, USA.
⁴ Department of Obstetrics and Gynecology, Sanford USD Medical Center, Sioux Falls, South Dakota, USA.
⁵ Department of Pediatrics, University of South Dakota Sanford School of Medicine, Sioux Falls, South Dakota, USA.
⁶ Environmental Exposures on Health and Disease Group, Sanford Research, Sioux Falls, South Dakota, USA.

PMID: 34004602
DOI: 10.1159/000516030

Abstract

We report a case of a male neonate delivered urgently via cesarean at thirty-five 5/7 weeks gestation for non-reassuring fetal monitoring who was found to have severe anemia at birth that could not be explained by acute blood loss. He was born to a 24-year-old mother, whose pregnancy was complicated by abnormal ultrasound findings, including a radial ray defect and fetal growth restriction. Trio rapid whole-exome sequencing (rWES) confirmed Diamond-Blackfan anemia in both the neonate and mother. This case highlights the importance of fetal surveillance and the clinical utility of rWES in the neonatal intensive care setting.

Keywords: Congenital bone marrow aplasia; Diamond-Blackfan anemia; Fetal sonography; Radial ray defects; Rapid whole-exome sequencing.

Publication types

Case Reports
Review

MeSH terms

Anemia, Diamond-Blackfan* / genetics
Exome Sequencing
Female
Humans
Infant, Newborn
Male
Pregnancy
Young Adult