2 Cases of Beta-thalassemia Minor in Korea / 임상소아혈액종양
Clinical Pediatric Hematology-Oncology
;
: 136-139, 2017.
Article
in English
| WPRIM
| ID: wpr-23106
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Parents
/
Reticulocytes
/
Beta-Globulins
/
Codon
/
Epidemiologic Studies
/
Genetic Testing
/
Incidence
/
Beta-Thalassemia
/
Anemia, Iron-Deficiency
/
Asian People
Type of study:
Incidence study
/
Observational study
/
Prognostic study
Limits:
Humans
Country/Region as subject:
Asia
Language:
English
Journal:
Clinical Pediatric Hematology-Oncology
Year:
2017
Type:
Article
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