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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Article Synopsis
- Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome primarily diagnosed in children, characterized by severe anemia and potential congenital defects.
- Diagnosis of DBA involves identifying variants in ribosomal protein genes, but adults can also be diagnosed, sometimes years after being misclassified with other conditions like pure red cell aplasia.
- The article discusses three adult cases of DBA misdiagnosed as PRCA and reviews 16 additional cases, while also suggesting possible treatment options for affected individuals.
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