TY - JOUR
T1 - Diamond Blackfan Anemia
T2 - A Nonclassical Patient with Diagnosis Assisted by Genomic Analysis
AU - Steinberg-Shemer, Orna
AU - Keel, Siobán
AU - Dgany, Orly
AU - Walsh, Tom
AU - Noy-Lotan, Sharon
AU - Krasnov, Tanya
AU - Yacobovich, Joanne
AU - Quarello, Paola
AU - Ramenghi, Ugo
AU - King, Mary Claire
AU - Shimamura, Akiko
AU - Tamary, Hannah
N1 - Publisher Copyright:
Copyright © 2016 Wolters Kluwer Health, Inc. All rights reserved.
PY - 2016/10/1
Y1 - 2016/10/1
N2 - Diamond Blackfan anemia (DBA) is an inherited syndrome usually presenting with severe macrocytic anemia in infancy, paucity of erythroid precursors in the bone marrow, and congenital anomalies. We describe a child with mild, transfusion independent normocytic anemia whose diagnosis of DBA was established by identification of a novel de novo mutation disrupting normal splicing of the ribosomal protein RPL5. The diagnosis of DBA was confirmed by elevated erythrocyte adenosine deaminase levels and an abnormal ribosomal RNA profile. This case demonstrates the usefulness of genomic analysis in establishing the diagnosis of DBA in patients with a nonclassical presentation of the disease.
AB - Diamond Blackfan anemia (DBA) is an inherited syndrome usually presenting with severe macrocytic anemia in infancy, paucity of erythroid precursors in the bone marrow, and congenital anomalies. We describe a child with mild, transfusion independent normocytic anemia whose diagnosis of DBA was established by identification of a novel de novo mutation disrupting normal splicing of the ribosomal protein RPL5. The diagnosis of DBA was confirmed by elevated erythrocyte adenosine deaminase levels and an abnormal ribosomal RNA profile. This case demonstrates the usefulness of genomic analysis in establishing the diagnosis of DBA in patients with a nonclassical presentation of the disease.
KW - DBA
KW - Diamond Blackfan anemia
KW - high throughput sequencing
KW - next-generation sequencing
KW - targeted sequencing
UR - http://www.scopus.com/inward/record.url?scp=84973304965&partnerID=8YFLogxK
U2 - 10.1097/MPH.0000000000000587
DO - 10.1097/MPH.0000000000000587
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C2 - 27258031
AN - SCOPUS:84973304965
SN - 1077-4114
VL - 38
SP - e260-e262
JO - Journal of Pediatric Hematology/Oncology
JF - Journal of Pediatric Hematology/Oncology
IS - 7
ER -