[Clues for identifying Diamond-Blackfan anemia among infants with early severe anemia: Clinical and genetic analysis of 11 cases].

OBJECTIVE

To summarize the early recognition clues, genetic characteristics, and short-term outcomes of children with Diamond-Blackfan anemia (DBA) in order to provide a reference for the differential diagnosis of severe anemia in early infancy.

METHODS

A retrospective analysis was conducted on 11 children clinically diagnosed with DBA at the Department of Pediatric Hematology of the Third Affiliated Hospital of Zhengzhou University between May 2020 and December 2024. Their general condition, initial presentation, associated phenotypes, lab and bone marrow examination results, genetic testing results, treatment methods, and follow-up outcomes were collected and analyzed. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 2026-056).

RESULTS

A total of 11 clinically diagnosed children were included, 6 of whom had onset in the neonatal period and 5 in infancy. Severe anemia in early infancy was a common feature, with hemoglobin levels ranging from 16 to 71 g/L (median value = 42 g/L), and mean corpuscular volume (MCV) being mostly normal or elevated. All 11 bone marrow examinations showed reduced erythroid lineage. Seven cases had confirmed structural malformations, and five cases had developmental delays. In terms of genetics, five DBA-related genes were involved, with RPS19 being the most common. Ten cases had pathogenic/likely pathogenic or DBA-related supportive variants detected, and one case had an RPS29 variant of uncertain significance related to the phenotype. All children had a history of blood transfusions. Among the 10 cases that could be followed up, glucocorticoid treatment was temporarily effective in six cases, three developed iron overload, two relapsed, and one underwent hematopoietic stem cell transplantation and survived.

CONCLUSION

Early identification of DBA should focus on the core combination of severe anemia in early infancy, normal or increased MCV, reduced reticulocytes, and suppressed erythroid lineage in the bone marrow, while also considering the presence of congenital anomalies. Genetic testing has facilitated to clarify the molecular typing and explain the phenotypes. The absence of typical malformations does not rule out DBA, and infants with early severe anemia should undergo bone marrow and genetic evaluation as soon as possible.