Increased prevalence of thalassemia in young people in Korea: Impact of increasing immigration

Hyun Ji Lee, Kyung Hwa Shin, Hyung Hoi Kim, Eu Jeen Yang, Kyung Hee Park, Min Ju Kim, Jeong Ran Kwon, Young Sil Choi, Jun Nyun Kim, Myung Geun Shin, Yong Gon Cho, Sun Jun Kim, Kyeong Hee Kim, Seri Jeong, Seom Gim Kong, Yu Jin Jung, Nayoung Lee, Man Jin Kim, Moon Woo Seong

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


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.

Original languageEnglish
Pages (from-to)133-140
Number of pages8
JournalAnnals of laboratory medicine
Issue number2
StatePublished - 2019


  • Genetic testing
  • Immigrants
  • Korea
  • Prevalence
  • Thalassemia

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