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Case Report
2 Cases of Beta-thalassemia Minor in Korea
Clin Pediatr Hematol Oncol 2017;24:136-9.
Published online October 31, 2017
© 2017 Korean Society of Pediatric Hematology-Oncology and Korean Society for Pediatric Neuro-Oncology

Eun Jeong Kim, M.D., Seung Woo Jeung, M.D. and Hoi Soo Yoon, M.D., Ph.D.

Department of Pediatrics, Kyung Hee University College of Medicine, Seoul, Korea
Correspondence to: Hoi Soo Yoon
Department of Pediatrics, Kyung Hee University Hospital, 23 Kyungheedae-ro, Dongdaemun-gu, Seoul 02447, Korea
Tel: +82-2-958-8206 Fax: +82-2-958-1382 E-mail: snoopyi@hanmail.net
Received August 29, 2017; Revised September 16, 2017; Accepted September 26, 2017.
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
In Korea, recent epidemiologic studies show that the incidence of β-thalassemia is increasing as the influx of South-East Asian population increases and molecular technologies develop. However, many patients are still misdiagnosed as iron deficiency anemia (IDA). All patients with microcytic anemia need to perform evaluation including reticulocyte index, Mentzer index, and iron studies. Considering the increasing incidence of β-thalassemia, hemoglobin beta globulin (HBB) gene sequencing should be performed if suspicious. In our cases, patients whose parents were both Koreans were confirmed to have β-thalassemia with a substitution in c1, ATG>GTG, and deletion of the HBB gene. In Korea, initiation condon ATG>AGG (20.9%) is most common mutation, followed by codon 17 (A>T) (17.6%), codon 121 (G>T) (12.1%), and so on. We report two cases of β-thalassemia diagnosed by genetic testing for microcytic anemia. 
Keywords: β-thalassemia minor, HBB mutation, Microcytic anemia
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October 2018, 25 (2)
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  • Hoi Soo Yoon