Review Article
Split Viewer
Blood Res 2019; 54(1):
Published online March 31, 2019
https://doi.org/10.5045/br.2019.54.1.17
© The Korean Society of Hematology
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
1Department of Laboratory Medicine, Hallym University College of Medicine, Anyang, Korea.
2Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
3Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.
4Department of Laboratory Medicine, University of Ulsan College of Medicine, Ulsan University Hospital, Ulsan, Korea.
5Department of Laboratory Medicine, Seoul National University Hospital and College of Medicine, Seoul, Korea.
6Department of Laboratory Medicine, Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
7Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Korea.
Correspondence to : 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. jyhan@dau.ac.kr
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) 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 hemoglobinopathy 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
PDF
Standard view
Export citation
Share Article
Review Article
Blood Res 2019; 54(1): 17-22
Published online March 31, 2019 https://doi.org/10.5045/br.2019.54.1.17
Copyright © The Korean Society of Hematology.
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, and Jin Yeong Han7*
1Department of Laboratory Medicine, Hallym University College of Medicine, Anyang, Korea.
2Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
3Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.
4Department of Laboratory Medicine, University of Ulsan College of Medicine, Ulsan University Hospital, Ulsan, Korea.
5Department of Laboratory Medicine, Seoul National University Hospital and College of Medicine, Seoul, Korea.
6Department of Laboratory Medicine, Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
7Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Korea.
Correspondence to: 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. jyhan@dau.ac.kr
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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 hemoglobinopathy 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
Previous Article
Article Tools
Stats or Metrics
Share this article on
Related articles in BR
-
The role of next-generation sequencing in hematologic malignancies
Young‑Uk Cho
Blood Res 2024; 59(): -
Recent advances in diagnosis and therapy in systemic mastocytosis
Hyun Jung Lee
Blood Res 2023; 58(S1): S96-S108 -
Mycosis fungoides and Sézary syndrome
Hyewon Lee
Blood Res 2023; 58(S1): S66-S82
