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The shortcut strategy for beta thalassemia prevention

Narutchala Suwannakhon, Khajohnsilp Pongsawatkul, Teerapat Seeratanachot, Khwanruedee Mahingsa, Arunee Pingyod, Wanwipa Bumrungpakdee, Torpong Sanguansermsri
  • Narutchala Suwannakhon
    Discipline of Biology, School of Science, University of Phayao, Thailand | Narutchala@gmail.com
  • Khajohnsilp Pongsawatkul
    Division of Obstetrics and Gynecology, Phayao Hospital, Thailand
  • Teerapat Seeratanachot
    Discipline of Biochemistry, School of Medical Science, University of Phayao, Thailand
  • Khwanruedee Mahingsa
    Thalassemia Unit, University of Phayao, Thailand
  • Arunee Pingyod
    Thalassemia Unit, University of Phayao, Thailand
  • Wanwipa Bumrungpakdee
    Thalassemia Unit, University of Phayao, Thailand
  • Torpong Sanguansermsri
    Thalassemia Unit, University of Phayao, Thailand

Abstract

We propose antenatal blood tests using high-resolution DNA melting (HRM) analysis for beta thalassemia mutation detection after hemoglobin A2 estimation as a modified strategy for the identification of beta thalassemia at-risk couples. Antenatal blood samples of 1,115 couples were transferred from the antenatal care clinic. Hemoglobin A2 was quantified, and proportions ≥3.5% were further assessed for beta thalassemia mutation using HRM analysis. Twelve types of beta thalassemia mutations, including hemoglobin E, were identified. There were 23 couples who were detected as at-risk. All at-risk couples were identified within 7 working days after sample receipt. Prenatal diagnosis revealed 6 affected fetuses. One fetus was homozygous CD17 (AT), and five fetuses exhibited beta0 – thalassemia/ hemoglobin E disease. These results were consistent with the outcomes calculated using the Hardy-Weinberg equation. Antenatal blood tests for mutation detection using high-resolution DNA melting analysis after hemoglobin A2 estimation is a feasible laboratory method for the recruitment of couples with a fetus that is at risk for beta thalassemia. This modified strategy is cost-effective and may be beneficial for use in a beta thalassemia prevention program.

Keywords

Shortcut strategy, Beta thalassemia prevention, Hemoglobin E, Hemoglobin A2.

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Submitted: 2017-12-10 05:13:12
Published: 2018-05-25 09:21:12
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Copyright (c) 2018 Narutchala Suwannakhon, Khajohnsilp Pongsawatkul, Teerapat Seeratanachot, Khwanruedee Mahingsa, Arunee Pingyod, Wanwipa Bumrungpakdee, Torpong Sanguansermsri

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