30(03) 249-254
| Diamond-Blackfan Anemia Confirmed by RPS19 Gene Mutation Analysis:
A Case Study and Literature Review of Korean Patients |
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| Hyojin Chae, M.D.1, Joonhong Park, M.D.1, Myungshin Kim, M.D.1, Jihyang Lim, M.D.1, Yonggoo Kim, M.D.1,
Kyungja Han, M.D.1, Jaewook Lee, M.D.2, Nak Gyun Chung, M.D.2, Bin Cho, M.D.2, and Hack Ki Kim, M.D.2 | | Department of Laboratory Medicine1 and Division of Pediatric Hematology/Oncology2, Department of Pediatrics, College of Medicine,
The Catholic University of Korea, Seoul, Korea | |
| 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. (Korean J Lab Med 2010;30:249-54) |
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Korean J Lab Med 2010 Jun; 30(03) 249-254  |
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| DOI No. : 10.3343/kjlm.2010.30.3.249 |
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| Keyword : Diamond-Blackfan anemia, Sequencing analysis, RPS19 |
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