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
이영경, 김희진, 이경훈, 박상혁, 송상훈, 성문우, 김명신, 한진영,
소속 상세정보
이영경 ( Lee Young-Kyung )
Hallym University College of Medicine Department of Laboratory Medicine
김희진 ( Kim Hee-Jin )
Sungkyunkwan University School of Medicine Samsung Medical Center Department of Laboratory Medicine and Genetics
이경훈 ( Lee Kyung-Hoon )
Seoul National University Bundang Hospital Department of Laboratory Medicine
박상혁 ( Park Sang-Hyuk )
University of Ulsan College of Medicine Ulsan University Hospital Department of Laboratory Medicine
송상훈 ( Song Sang-Hoon )
Seoul National University Hospital Department of Laboratory Medicine
성문우 ( Seong Moon-Woo )
Seoul National University Hospital Department of Laboratory Medicine
김명신 ( Kim Myung-Shin )
Catholic University College of Medicine Department of Laboratory Medicine
한진영 ( Han Jin-Yeong )
Dong-A University College of Medicine Department of Laboratory Medicine
Abstract
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.
키워드
Thalassemia; Hemoglobinopathies; Anemia; Diagnosis; Genetic testing
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