Abstract: 　Objective　To investigate the clinical and genetic features of Diamond-Blackfan anemia (DBA). Method　The clinical manifestations and genetic tests of 2 cases with DBA were retrospectively analyzed, and the related literatures were reviewed. Results　Two female patient （3-4 month old）with progressive ochriasis nearly a month was included.  Fever, seizure, vomit and abnormal change in urine and stool routine test were not shown. Blood routine test: the number of RBC in the two patients was decreased（1.24 ×1012/L and 1.48×1012/L）, HGB (46 g/L and 39 g/L）, and the number of RTC was also decreased (4.1×109/L and 4.3×109/L), RCV was normal (108.4 fl). Serum iron determination: Fe (44.3 mmol/L and 41.5 mmol/L) and ferritin (469.2 mmol/L and 491.7 ng/mL) were increased, transferrin was in the normal range. Erythrocyte fragility test resulted normal. Bone marrow examination found rarely erythroblasts. A novel heterozygous mutation in RPS19 gene, c.91C>T（p. P31S）, was found by genetic testing on patient 1. And we found a heterozygous mutation in RPL5 gene (c.472_473del) in patient 2. Conclusion　The majority of onset age of childhood DBA was within a few months with a erythroid deficiency. And RPS19 gene mutation is a common cause of this disease. The mutation of c.91C>T (p. P31S) has not been reported.