Blood Res 2019; 54(1): 17-22
Recent progress in laboratory diagnosis of thalassemia and hemoglobinopathy: a study by the Korean Red Blood Cell Disorder Working Party of the Korean Society of Hematology
Young Kyung Lee1, Hee-Jin Kim2, Kyunghoon Lee3, Sang Hyuk Park4, Sang Hoon Song5, Moon-Woo Seong5, Myungshin Kim6, Jin Yeong Han7
1Department of Laboratory Medicine, Hallym University College of Medicine, Anyang, 2Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Department of Laboratory Medicine, 3Seoul National University Bundang Hospital, Seongnam, 4University of Ulsan College of Medicine, Ulsan University Hospital, Ulsan, 5Seoul National University Hospital and College of Medicine, 6College of Medicine, The Catholic University of Korea, Seoul, 7Dong-A University College of Medicine, Busan, Korea
Correspondence to: Jin Yeong Han, M.D., Ph.D. Department of Laboratory Medicine, Dong-A University College of Medicine, 26 Daesingongwon-ro, Seo-gu, Busan 49201, Korea E-mail: E-mail:
Received: December 28, 2018; Accepted: January 3, 2019; Published online: March 31, 2019.
© The Korean Journal of Hematology. All rights reserved.

cc This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Genetic hemoglobin disorders are caused by mutations and/or deletions in the α-globin or β-globin genes. Thalassemia is caused by quantitative defects and hemoglobinopathies by structural defect of hemoglobin. The incidence of thalassemia and emoglobinopathy is increased in Korea with rapid influx of people from endemic areas. Thus, the awareness of the disease is needed. α-thalassemias are caused by deletions in α-globin gene, while β-thalassemias are associated with decreased synthesis of β-globin due to β-globin gene mutations. Hemoglobinopathies involve structural defects in hemoglobin due to altered amino acid sequence in the α- or β-globin chains. When the patient is suspected with thalassemia/hemoglobinopathy from abnormal complete blood count findings and/or family history, the next step is detecting hemoglobin abnormality using electrophoresis methods including high performance liquid chromatography and mass spectrometry. The development of novel molecular genetic technologies, such as massively parallel sequencing, facilitates a more precise molecular diagnosis of thalassemia/hemoglobinopathy. Moreover, prenatal diagnosis using genetic testing enables the prevention of thalassemia birth and pregnancy complications. We aimed to review the spectrum and classification of thalassemia/hemoglobinopathy diseases and the diagnostic strategies including screening tests, molecular genetic tests, and prenatal diagnosis.
Keywords: Thalassemia, Hemoglobinopathies, Anemia, Diagnosis, Genetic testing


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