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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아혈액종양학회 Clinical Pediatric Hematology-Oncology Clinical Pediatric Hematology-Oncology Vol.24 No.2
- 발행연도
- 2017.1
- 수록면
- 136 - 139 (4page)
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In Korea, recent epidemiologic studies show that the incidence of b-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 b-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 b-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 b-thalassemia diagnosed by genetic testing for microcytic anemia.
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등록된 정보가 없습니다.
참고문헌 (10)
참고문헌 신청
Thein SL / 2004 / Genetic insights into the clinical diversity of beta thalassaemia / Br J Haematol 124:264~274
Koo MS / 1988 / A case of -thalassemia minor in a Korean family / Korean J Clin Pathol 8:153~161
박은실 / 2013 / Hereditary hemolytic anemia in Korea from 2007 to 2011: A study by the Korean Hereditary Hemolytic Anemia Working Party of the Korean Society of Hematology / Blood Research 48(3):211~216
Cao A / 2010 / Beta-thalassemia / Genet Med 12:61~76
Galanello R / 2010 / Beta-thalassemia / Orphanet J Rare Dis 5:11
Koo MS / 1988 / A case of -thalassemia minor in a Korean family / Korean J Clin Pathol 8:153~161
박은실 / 2013 / Hereditary hemolytic anemia in Korea from 2007 to 2011: A study by the Korean Hereditary Hemolytic Anemia Working Party of the Korean Society of Hematology / Blood Research 48(3):211~216
Cao A / 2010 / Beta-thalassemia / Genet Med 12:61~76
Galanello R / 2010 / Beta-thalassemia / Orphanet J Rare Dis 5:11
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