The Shortcut Strategy for Beta Thalassemia Prevention

Suwannakhon, Narutchala; Pongsawatkul, Khajohnsilp; Seeratanachot, Teerapat; Mahingsa, Khwanruedee; Pingyod, Arunee; Bumrungpakdee, Wanwipa; Sanguansermsri, Torpong

doi:10.4081/hr.2018.7530

Open AccessArticle

The Shortcut Strategy for Beta Thalassemia Prevention

by

Narutchala Suwannakhon

^1,*,

Khajohnsilp Pongsawatkul

²,

Teerapat Seeratanachot

³,

Khwanruedee Mahingsa

⁴,

Arunee Pingyod

⁴,

Wanwipa Bumrungpakdee

⁴ and

Torpong Sanguansermsri

⁴

¹

Discipline of Biology, School of Science, University of Phayao, Phayao 56000, Thailand

²

Division of Obstetrics and Gynecology, Phayao Hospital, Phayao 56000, Thailand

³

Discipline of Biochemistry, School of Medical Science, University of Phayao, Phayao 56000, Thailand

⁴

Thalassemia Unit, University of Phayao, Phayao 56000, Thailand

^*

Author to whom correspondence should be addressed.

Hematol. Rep. 2018, 10(2), 7530; https://doi.org/10.4081/hr.2018.7530

Submission received: 10 December 2017 / Revised: 2 April 2018 / Accepted: 21 May 2018 / Published: 25 May 2018

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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 1115 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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MDPI and ACS Style

Suwannakhon, N.; Pongsawatkul, K.; Seeratanachot, T.; Mahingsa, K.; Pingyod, A.; Bumrungpakdee, W.; Sanguansermsri, T. The Shortcut Strategy for Beta Thalassemia Prevention. Hematol. Rep. 2018, 10, 7530. https://doi.org/10.4081/hr.2018.7530

AMA Style

Suwannakhon N, Pongsawatkul K, Seeratanachot T, Mahingsa K, Pingyod A, Bumrungpakdee W, Sanguansermsri T. The Shortcut Strategy for Beta Thalassemia Prevention. Hematology Reports. 2018; 10(2):7530. https://doi.org/10.4081/hr.2018.7530

Chicago/Turabian Style

Suwannakhon, Narutchala, Khajohnsilp Pongsawatkul, Teerapat Seeratanachot, Khwanruedee Mahingsa, Arunee Pingyod, Wanwipa Bumrungpakdee, and Torpong Sanguansermsri. 2018. "The Shortcut Strategy for Beta Thalassemia Prevention" Hematology Reports 10, no. 2: 7530. https://doi.org/10.4081/hr.2018.7530

APA Style

Suwannakhon, N., Pongsawatkul, K., Seeratanachot, T., Mahingsa, K., Pingyod, A., Bumrungpakdee, W., & Sanguansermsri, T. (2018). The Shortcut Strategy for Beta Thalassemia Prevention. Hematology Reports, 10(2), 7530. https://doi.org/10.4081/hr.2018.7530

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The Shortcut Strategy for Beta Thalassemia Prevention

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