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KMID : 0981820100300030249
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Korean Journal of Laboratory Medicine
2010 Volume.30 No. 3 p.249 ~ p.254
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Diamond-Blackfan Anemia Confirmed by RPS19 Gene Mutation Analysis: A Case Study and Literature Review of Korean Patients
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Chae Hyo-Jin
Kim Hack-Ki
Kim Yong-Goo
Han Kyung-Ja
Park Joon-Hong
Kim Myung-Shin
Lim Ji-Hyang
Lee Jae-Wook
Chung Nack-Gyun
Cho Bin
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Abstract
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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.
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KEYWORD
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Diamond-Blackfan anemia, Sequencing analysis, RPS19
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