Ann Lab Med 2019; 39(2): 133-140
Increased Prevalence of Thalassemia in Young People in Korea: Impact of Increasing Immigration
Hyun-Ji Lee, M.D.1,*, Kyung-Hwa Shin, M.D.1,*, Hyung-Hoi Kim, M.D.1,2, Eu Jeen Yang, M.D.3, Kyung-Hee Park, M.D.3, Min Ju Kim, M.S.4, Jeong-Ran Kwon, Ph.D.5, Young-Sil Choi, Ph.D.6, Jun Nyun Kim, M.D.4, Myung-Geun Shin, M.D.7, Yong Gon Cho, M.D.8, Sun Jun Kim, M.D.9, Kyeong-Hee Kim, M.D.10, Seri Jeong, M.D.11, Seom Gim Kong, M.D.12, Yu Jin Jung, M.D.12, Nayoung Lee, M.D.13, Man Jin Kim, M.D.14, and Moon-Woo Seong, M.D.14
Departments of 1Laboratory Medicine, 2BioMedical Informatics Unit and 3Pediatrics, Pusan National University School of Medicine, Busan, Korea; 4Division of Human Blood Safety Surveillance, 5Division of Infectious Disease Surveillance, 6Division of Laboratory Diagnosis Management, Korea Centers for Disease Control and Prevention, Cheongju, Korea; 7Department of Laboratory Medicine, Chonnam National University Medical School, Gwangju, Korea; Departments of 8Laboratory Medicine and 9Pediatrics, Chonbuk National University Hospital, Jeonju, Korea; 10Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Korea; Departments of 11Laboratory Medicine and 12Pediatrics, Kosin University College of Medicine, Busan, Korea; 13Department of Pediatrics, Busan St. Mary Hospital, Busan, Korea; 14Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea
Corresponding author: Hyung-Hoi Kim, M.D.
Department of Laboratory Medicine and BioMedical Informatics Unit, Pusan National University School of Medicine, 179 Gudeok-ro, Seo-gu, Busan 49241, Korea
Tel: +82-51-240-7418
Fax: +82-51-247-6560
*These authors contributed equally to this work.
Received: November 13, 2017; Revised: March 28, 2018; Accepted: August 30, 2018; Published online: March 1, 2019.
© Korean Society for Laboratory Medicine. All rights reserved.

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Background: Thalassemia is highly prevalent in Southeast Asia but is rare in Korea; however, Southeast Asian immigrant population is recently rising in Korea. We investigated the prevalence of thalassemia in Korea in the context of increasing immigration.
Methods: This prospective, observational, multicenter study was conducted between September 2015 and August 2017. A total of 669 subjects <30 years living in Korea were grouped into the multiethnic (N=314) and Korean (N=355) groups. Hb electrophoresis and complete blood count (CBC) were performed. If low mean corpuscular volume with high red blood cell distribution width coefficient of variation or a high fetal Hb (HbF) or Hb alpha 2 (HbA2) level was observed, genetic testing of the α- and β-globin genes was performed. In addition, the number of potential thalassemia carriers in Korea was estimated by multiplying the prevalence of thalassemia in a specific ethnicity by the number of immigrants of that ethnicity.
Results: Twenty-six multiethnic and 10 Korean subjects showed abnormal results for Hb electrophoresis and CBC. Eighteen multiethnic subjects and four Korean subjects were tested for α-globin and β-globin gene mutations. Within the multiethnic group, five subjects (1.5%) were α-thalassemia carriers, and six (1.9%) were β-thalassemia minor. The SEA deletion in HBA1 and HBA2, and c. 126_129delCTTT (p.Phe42Leufs*19) mutation of HBB were the dominant inherited mutations.
Conclusions: The prevalence of thalassemia in young people in Korea is increasing due to the increasing number of Southeast Asian immigrants.
Keywords: Prevalence, Thalassemia, Genetic testing, Korea, Immigrants

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