International Journal of Hematology

, Volume 76, Supplement 2, pp 93–95 | Cite as

β-Thalassemia in the Korean population

  • Sung Sup Park
  • Han-Ik Cho
Thalassemia and Hemoglobinopathy


β-Thalassemia is uncommon in the Korean population, however it must be considered in the differential diagnosis of hypochromic anemia. The molecular characterization of β-Thalassemia is absolutely necessary for molecular diagnosis as well as any genetic epidemiological study in this region. We analyzed the molecular basis of β-thalassemia in 47 Korean families. Using direct sequencing of genomic DNA amplified through PCR and haplotype analysis, 44 β-thalassemia genes were characterized, all of which were heterozygous. Fourteen different mutations were identified. The common mutations noted included the intiation codon (CD) ATG->AGG (23.4%), CD 17 A->T (21.2%), and IVS-II-1 G->A (12.7%). Interestingly, mutations causing dominantly inherited β-thalassemia were common (17.0%). All cases of IVS-II-1 G->A mutations were linked to the silent mutation of CD 91 C->T of the-globin gene. The initiation CD ATG->AGG and IVS-II-1 G->A with CD 91 C->T were found in the Far East only, and may be inherited from a common origin for each mutation, at least in Koreans. CD17 A->T and CDs 41/42-TTCT were suggested to be introduced by gene-flow from southern China. Otherwise, Hb Korea, CDs 89/90-GT and a novel β-thalassemia mutation, CD 131 CAG->TAG, were only identified in Koreans. This mutation spectrum is characteristic of the low prevalent area of β-thalassemia, however it is quite different even from the adjacent countries, Japan or China.


Thalassemia Korean Population Common Mutation Globin Gene Silent Mutation 
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Copyright information

© The Japanese Society of Hematology 2002

Authors and Affiliations

  • Sung Sup Park
    • 1
  • Han-Ik Cho
    • 1
  1. 1.Department of Clinical Pathology, Seoul National University College of MedicineSeoul National University Hospital Clinical Research InstituteSeoulKorea

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