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Ann Lab Med. 2019 Mar;39(2):133-140. doi: 10.3343/alm.2019.39.2.133.

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

Author information

1
Department of Laboratory Medicine, Pusan National University School of Medicine, Busan, Korea.
2
Department of BioMedical Informatics Unit, Pusan National University School of Medicine, Busan, Korea. hhkim@pusan.ac.kr.
3
Department of Pediatrics, Pusan National University School of Medicine, Busan, Korea.
4
Division of Human Blood Safety Surveillance, Korea Centers for Disease Control and Prevention, Cheongju, Korea.
5
Division of Infectious Disease Surveillance, Korea Centers for Disease Control and Prevention, Cheongju, Korea.
6
Division of Laboratory Diagnosis Management, Korea Centers for Disease Control and Prevention, Cheongju, Korea.
7
Department of Laboratory Medicine, Chonnam National University Medical School, Gwangju, Korea.
8
Department of Laboratory Medicine, Chonbuk National University Hospital, Jeonju, Korea.
9
Department of Pediatrics, Chonbuk National University Hospital, Jeonju, Korea.
10
Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Korea.
11
Department of Laboratory Medicine, Kosin University College of Medicine, Busan, Korea.
12
Department of Pediatrics, Kosin University College of Medicine, Busan, Korea.
13
Department of Pediatrics, Busan St. Mary Hospital, Busan, Korea.
14
Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.
#
Contributed equally

Abstract

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:

Genetic testing; Immigrants; Korea; Prevalence; Thalassemia

PMID:
30430775
PMCID:
PMC6240526
DOI:
10.3343/alm.2019.39.2.133
[Indexed for MEDLINE]
Free PMC Article

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