Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis.
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.
*Hematology Unit, Schneider Medical Center of Israel †The Felsenstein Medical Research Center, Sackler Faculty of Medicine, Tel Aviv University, Petach Tikva, Israel Departments of ‡Medicine, Division of Hematology §Medicine, Division of Medical Genetics #Medicine **Genome Sciences §§Pediatrics, University of Washington ††Clinical Research Division, Fred Hutchinson Cancer Research Center ‡‡Department of Pediatric Hematology/Oncology, Seattle Children's Hospital, Seattle, WA ∥Pediatric Onco-Hematology, Regina Margherita Children's Hospital ¶Pediatric Hematology, University of Turin, Turin, Italy.
Orna
O
Steinberg-Shemer
Siobán
S
Keel
Orly
O
Dgany
Tom
T
Walsh
Sharon
S
Noy-Lotan
Tanya
T
Krasnov
Joanne
J
Yacobovich
Paola
P
Quarello
Ugo
U
Ramenghi
Mary-Claire
MC
King
Akiko
A
Shimamura
Hannah
H
Tamary
D000243:Adenosine Deaminase / Q000097:blood; D029503:Anemia, Diamond-Blackfan / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D009154:Mutation; D012269:Ribosomal Proteins / Q000235:genetics*
D012269:Ribosomal Proteins; C549166:ribosomal protein L5, human; D000243:Adenosine Deaminase