Diamond-Blackfan Anemia Confirmed by RPS19 Gene Mutation Analysis: A Case Study and Literature Review of Korean Patients.
10.3343/kjlm.2010.30.3.249
- Author:
Hyojin CHAE
1
;
Joonhong PARK
;
Myungshin KIM
;
Jihyang LIM
;
Yonggoo KIM
;
Kyungja HAN
;
Jaewook LEE
;
Nak Gyun CHUNG
;
Bin CHO
;
Hack Ki KIM
Author Information
1. Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea. microkim@catholic.ac.kr
- Publication Type:Case Report ; Review ; English Abstract
- Keywords:
Diamond-Blackfan anemia;
Sequencing analysis;
RPS19
- MeSH:
Anemia, Diamond-Blackfan/*diagnosis/genetics/therapy;
Asian Continental Ancestry Group/*genetics;
Bone Marrow/pathology;
Erythrocyte Transfusion;
Exons;
Humans;
Infant;
Point Mutation;
Republic of Korea;
Ribosomal Proteins/*genetics;
Sequence Analysis, DNA
- From:The Korean Journal of Laboratory Medicine
2010;30(3):249-254
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
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.
