Diamond-Blackfan anemia (DBA) is a rare congenital disorder characterized by pure erythrocyte aplasia, and approximately 70% of patients carry mutations in the genes encoding ribosomal proteins (RP). Here, we report the case of a male infant with DBA who presented with anemic crisis (hemoglobin [Hb] concentration 1.5 g/dL) at 58 days after birth. On admission, the infant was pale and had tachypnea, but recovered with intensive care, including red blood cell transfusions, and prednisolone. Based on the clinical diagnosis of DBA, the father of the infant had cyclosporine-A-dependent anemia. On analysis of RP genes when the infant was 6 months old, both the infant and the father, but not the mother, were found to harbor a mutation of RPS19 (c.167G > C, p. R56P). Therefore, genetic background search and early neonatal health check-ups are recommended for families with a history of inherited bone marrow failure syndromes.
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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.
Genotype-phenotype associations in individuals with Diamond Blackfan anaemia.
EJHaem
December 2024
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics National Cancer Institute, NIH, Rockville Bethesda Maryland USA.
Introduction: Diamond Blackfan anaemia (DBA) is a rare disorder characterized by failure of red blood cell production, congenital abnormalities and cancer predisposition, primarily caused by pathogenic germline variants in genes encoding ribosomal proteins.
Methods: We conducted a genotype-phenotype and outcome study of 121 patients with DBA spanning the 20-year history of the National Cancer Institute's Inherited Bone Marrow Failure Syndromes study. Patient phenotypes were compared by large versus small ribosomal protein genes, across genes with >5 cases (, , and ) and by type of pathogenic variants (hypomorphic versus null, large deletions versus others).
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