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Thalassemia Reports
Volume 7
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Thalassemia Reports is published by MDPI from Volume 12 Issue 1 (2022). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Article

Fast-Track Strategy for the Prevention of Hb Bart’s Hydrops Fetalis Syndrome

by
Narutchala Suwannakhon
1,*,
Khajohnsilp Pongsawatkul
2,
Teerapat Seeratanachot
3,
Wirawan Rasri
2,
Khwanruedee Mahingsa
4,
Arunee Pingyod
4,
Wanwipa Bumrungpakdee
4 and
Torpong Sanguansermsri
4
1
Discipline of Biology, School of Science, University of Phayao, Phayao, Thailand
2
Division of Obstetrics and Gynecology, Phayao Hospital, Phayao, Thailand
3
Discipline of Biochemistry, School of Medical Science, University of Phayao, Phayao, Thailand
4
Thalassemia Unit, University of Phayao, Phayao, Thailand
*
Author to whom correspondence should be addressed.
Thalass. Rep. 2017, 7(1), 6620; https://doi.org/10.4081/thal.2017.6620
Submission received: 7 February 2017 / Revised: 21 August 2017 / Accepted: 24 August 2017 / Published: 2 October 2017

Abstract

We propose a fast-track strategy [direct blood DNA analysis using a quantitative real-time polymerase chain reaction (PCR) technique] for the early risk detection and prenatal diagnosis of α(0)-thalassemia (SEA and Thai deletion). Blood DNA samples were obtained from a volunteer group of 1235 ANC couples. They were assessed using quantitative real-time PCR to detect carriers of α(0)-thalassemia (SEA and Thai deletion). At-risk couples were identified, and further prenatal diagnosis by amniocentesis was implemented. Fetal DNA was isolated from the amniotic cells and characterized by quantitative real-time PCR to detect the α(0)-thalassemia mutation, which was reconfirmed using the droplet digital PCR method. Fifteen at-risk couples were identified. The timing of prenatal diagnosis was appropriate for all couples and four of the fetuses were diagnosed with Bart’s hydrops fetalis. The results were compatible with those calculated using the Hardy-Weinberg equation for a recessively inherited single gene disorder. The conclusion was that the fast-track strategy could shorten screening policy timelines, promoting early risk detection for couples and early prenatal diagnosis. The fast-track strategy might be beneficial for the prevention of hemoglobin Bart’s hydrops fetalis syndrome.
Keywords: fast-track diagnosis; α(0)-thalassemia (SEA and Thai deletion) carriers; prevention of Hb Bart’s hydrops fetalis syndrome fast-track diagnosis; α(0)-thalassemia (SEA and Thai deletion) carriers; prevention of Hb Bart’s hydrops fetalis syndrome

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MDPI and ACS Style

Suwannakhon, N.; Pongsawatkul, K.; Seeratanachot, T.; Rasri, W.; Mahingsa, K.; Pingyod, A.; Bumrungpakdee, W.; Sanguansermsri, T. Fast-Track Strategy for the Prevention of Hb Bart’s Hydrops Fetalis Syndrome. Thalass. Rep. 2017, 7, 6620. https://doi.org/10.4081/thal.2017.6620

AMA Style

Suwannakhon N, Pongsawatkul K, Seeratanachot T, Rasri W, Mahingsa K, Pingyod A, Bumrungpakdee W, Sanguansermsri T. Fast-Track Strategy for the Prevention of Hb Bart’s Hydrops Fetalis Syndrome. Thalassemia Reports. 2017; 7(1):6620. https://doi.org/10.4081/thal.2017.6620

Chicago/Turabian Style

Suwannakhon, Narutchala, Khajohnsilp Pongsawatkul, Teerapat Seeratanachot, Wirawan Rasri, Khwanruedee Mahingsa, Arunee Pingyod, Wanwipa Bumrungpakdee, and Torpong Sanguansermsri. 2017. "Fast-Track Strategy for the Prevention of Hb Bart’s Hydrops Fetalis Syndrome" Thalassemia Reports 7, no. 1: 6620. https://doi.org/10.4081/thal.2017.6620

APA Style

Suwannakhon, N., Pongsawatkul, K., Seeratanachot, T., Rasri, W., Mahingsa, K., Pingyod, A., Bumrungpakdee, W., & Sanguansermsri, T. (2017). Fast-Track Strategy for the Prevention of Hb Bart’s Hydrops Fetalis Syndrome. Thalassemia Reports, 7(1), 6620. https://doi.org/10.4081/thal.2017.6620

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