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.

Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis

Quarello, Paola;Ramenghi, Ugo;
2016-01-01

Abstract

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.
2016
38
7
e260
e263
http://journals.lww.com/jpho-online
Pediatrics, Perinatology and Child Health; Medicine (all); Hematology; Oncology, congenital anemia
Steinberg-Shemer, Orna*; Keel, Siobán; Dgany, Orly; Walsh, Tom; Noy-Lotan, Sharon; Krasnov, Tanya; Yacobovich, Joanne; Quarello, Paola; Ramenghi, Ugo; King, Mary-Claire; Shimamura, Akiko; Tamary, Hannah
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/1677078
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