International Journal of Hematology

DOI: 10.1007/s12185-018-2424-4 Pages: 228-231

Atypical erythroblastosis in a patient with Diamond–Blackfan anemia who developed del(20q) myelodysplasia

1. Kyushu University, Department of Pediatrics, Graduate School of Medical Sciences

2. Kyushu University, Department of Perinatal and Pediatric Medicine, Graduate School of Medical Sciences

3. Nagoya University Graduate School of Medicine, Department of Pediatrics

4. Tokyo Women’s Medical University, Department of Transfusion Medicine and Cell Processing

5. Hirosaki University Graduate School of Medicine, Department of Pediatrics

Correspondence to:
Motoshi Sonoda
Email: sonoda-m@pediatr.med.kyushu-u.ac.jp

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Abstract

Diamond–Blackfan anemia (DBA) is a congenital red cell aplasia arising from ribosomal protein (RP) defects. Affected patients present with neonatal anemia, occasional dysmorphism, and cancer predisposition. An anemic newborn was diagnosed with DBA due to RPL5 mutation (c.473_474del, p.K158SfsX26). Refractory anemia required regular transfusions and iron chelation therapy. Pancytopenia occurred at age 16 years. Bone-marrow studies showed myelodysplasia, erythroblastosis, and clonal evolution of del(20)(q11.2q13.3). Severe anemia required transfusions. Del(20q), including the L3MBTL1 gene, is reported to be relevant to the hematological phenotype of Shwachman–Diamond syndrome. A combined defect of RPL5 and L3MBTL1 may contribute to the aberrant erythropoiesis in the present case.

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