Increased Prevalence of Thalassemia in Young People in Korea: Impact of Increasing Immigration.

Ann Lab Med 2019 Mar;39(2):133-140

Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.

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 deletion in and , and c. 126_129delCTTT (p.Phe42Leufs*19) mutation of 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.

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http://dx.doi.org/10.3343/alm.2019.39.2.133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240526PMC
March 2019
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