[Clinical features and pathogenic gene detection of Diamond-Blackfan anemia]

To investigate the clinical features of Diamond-Blackfan anemia (DBA) and related pathogenic genes.

A retrospective analysis was performed for the clinical data of two children with DBA, and related literature was reviewed.

The two children with DBA (2-3 months old) manifested with severe normochromic normocytic anemia, decreased reticulocyte count, and increased serum iron and serum ferritin. Normal white blood cell and platelet counts were noted in the two patients. Bone marrow examination showed a decreased percentage of erythrocytes and rare normoblasts in the two patients. Gene screening showed a reported pathogenic heterozygous mutation in RPS19 gene, c.212G>A (p. Gly71Glu), in one patient, and there were no mutations in his parents. In the other patient, gene screening showed a heterozygous mutation in RPL5 gene, c.740T>C (p. I247L), which had not been reported in literature, and there were no mutations in her parents. A bioinformatic analysis showed that this might be a pathogenic mutation.

The onset age of DBA is early infancy in most children, with a manifestation of erythroid deficiency. RPS19 and RPL5 gene mutations are common causes of this disease. Molecular detection helps with the early diagnosis of DBA.