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ORIGINAL RESEARCH article

Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1416047

Routine Antenatal Molecular Testing for α-Thalassemia at a Tertiary Referral Hospital in China: Ten years of Experience

Provisionally accepted
Li Dongming Li Dongming 1*Lifang Liang Lifang Liang 1,2Dahua Meng Dahua Meng 1Sheng He Sheng He 1,2
  • 1 Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China
  • 2 Guangxi Key Laboratory of Reproductive Health and Birth Defect Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi Zhuang Region, China

The final, formatted version of the article will be published soon.

    Objective: This study aimed to evaluate the efficacy of α-thalassemia gene testing as a part of an antenatal intervention program over a 10-year period.Methods: All patients underwent α-thalassemia gene testing, which included the analysis of three types of deletions and mutations. Rare α-thalassemia gene testing was performed using Sanger sequencing, multiplex ligation-dependent probe amplification, and sequencing techniques. Prenatal diagnosis was performed in high-risk couples using chorionic villus sampling or amniocentesis.Results: From 2010 to 2019, among the 91,852 patients examined, α-thalassemia mutations were identified in 41.78% of patients. The most frequent α 0 gene mutation was --SEA , followed by --THAI .Two rare α 0 -thalassemia gene mutations at --32.8 and --230 , were also observed. A total of 2,235 highrisk couples were identified, of which 562 were affected, including three with the --SEA /--THAI genotype and one with the --SEA /--230 genotype. Additionally, prenatal diagnosis revealed four cases of fetal anemia and/or mild edema, along with two cases of severe fetal edema. Chromosome and gene chip results were normal. Thalassemia gene testing showed an α CS α/α CS α genotype in four patients with anemia and/or mild edema, while two patients with severe fetal edema had one --SEA /α CS α genotype and one --SEA /--GX genotype. Using the cut-off points of 74.6 fL and 24.4 pg as criteria for identifying α 0 -thalassemia carriers and HbH disease, the detection rate of missed diagnoses in high-risk couples is consistent with national guidelines for standards, potentially saving 10,217,700 ¥.Routine molecular testing for α-thalassemia in high-risk prenatal populations effectively prevented severe α-thalassemia births. Despite the high cost, the cutoff points proposed by this study suggest that implementing screening using a new parameter has the potential to reduce current expenses.

    Keywords: α-thalassemia, antenatal screening, hematological parameters, Prenatal Diagnosis, cost-saving

    Received: 11 Apr 2024; Accepted: 20 May 2024.

    Copyright: © 2024 Dongming, Liang, Meng and He. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Li Dongming, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.