Clin Pediatr Hematol Oncol.  2017 Oct;24(2):136-139. 10.15264/cpho.2017.24.2.136.

2 Cases of Beta-thalassemia Minor in Korea

• Kim EJ
• Jeung SW
• Yoon HS

• KMID: 2396015
• DOI: http://doi.org/10.15264/cpho.2017.24.2.136

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.

Keyword

β-thalassemia minor; HBB mutation; Microcytic anemia

MeSH Terms

Anemia
Anemia, Iron-Deficiency
Asian Continental Ancestry Group
Beta-Globulins
beta-Thalassemia*
Codon
Epidemiologic Studies
Genetic Testing
Humans
Incidence
Iron
Korea*
Parents
Reticulocytes
Beta-Globulins
Codon
Iron