Diamond-Blackfan anemia (DBA) is a rare congenital erythroid hypoplastic anemia 
that usually presents early in infancy and is inherited in up to 45% of cases. 
It is characterized by red cell aplasia, congenital anomalies, and a 
predisposition to cancer. Corticosteroids and red blood cell transfusions are 
the mainstays of therapy. We describe a case of 3-month-old infant who presented 
with severe anemia, elevated levels of HbF and adenosine deaminase and bilateral 
hydronephrosis, who was later confirmed as DBA by mutation analysis using the 
direct sequencing method. Direct sequencing analysis of RPS19 gene was performed 
with both cDNA and genomic DNA extracted from peripheral blood and a c.3G>A 
point mutation of exon 2 resulting in p.Met1Ile was identified in this patient. 
The patient showed an inadequate response to steroid therapy and a partial 
response to RBC transfusion with a follow-up Hb level of 8.3 g/dL on her last 
visit to the outpatient clinic. DBA is a genetically and phenotypically 
heterogeneous disease, and we have reviewed the clinical characteristics of 25 
Korean patients thus far reported in the literature. To our knowledge, this is 
the first case of DBA confirmed by mutation analysis in Korea, and mutation 
identification using molecular method is recommended for confirmation of this 
genetically and phenotypically heterogeneous disease.