2 Cases of Beta-thalassemia Minor in Korea
10.15264/cpho.2017.24.2.136
- Author:
Eun Jeong KIM
1
;
Seung Woo JEUNG
;
Hoi Soo YOON
Author Information
1. Department of Pediatrics, Kyung Hee University College of Medicine, Seoul, Korea. snoopyi@hanmail.net
- Publication Type:Case Report
- Keywords:
β-thalassemia minor;
HBB mutation;
Microcytic anemia
- MeSH:
Anemia;
Anemia, Iron-Deficiency;
Asian Continental Ancestry Group;
Beta-Globulins;
beta-Thalassemia;
Codon;
Epidemiologic Studies;
Genetic Testing;
Humans;
Incidence;
Iron;
Korea;
Parents;
Reticulocytes
- From:Clinical Pediatric Hematology-Oncology
2017;24(2):136-139
- CountryRepublic of Korea
- Language:English
-
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.
