Journal of Shanghai Jiao Tong University (Medical Science) >

2026 , Vol. 46 >Issue 5: 624 - 632

DOI: https://doi.org/10.3969/j.issn.1674-8115.2026.05.008

Clinical research

Genotypic distribution of thalassemia in pregnant women in Nanning, Guangxi, and its impact on pregnancy outcomes

  • Li Jing ,
  • Liang Xuxia ,
  • Wu Hua ,
  • Zhang Chun ,
  • Lu Yanqun ,
  • Zhang Jihong
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  • Department of Obstetrics, Guangxi Academy of Medical Science/The People's Hospital of Guangxi Zhuang Autonomous Region, Nanning 530021, China
Zhang Jihong, E-mail: 649588561@qq.com.

Received date: 2025-08-19

  Accepted date: 2025-12-25

  Online published: 2026-05-28

Supported by

Guangxi Science and Technology Program Project(桂科AB22035018);Guangxi Healthcare Appropriate Technology Development and Promotion Project(S2022021);Scientific Research Program of Guangxi Zhuang Autonomous Region Health Commission(Z20210594)

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Abstract

Objective ·To investigate the genotypic distribution of thalassemia in pregnant women in Nanning, Guangxi, and its impact on pregnancy outcomes. Methods ·A retrospective cohort study was conducted among 3 649 pregnant women enrolled from January 2021 to December 2024 at the Guangxi Zhuang Autonomous Region People′s Hospital. Participants were categorized into α-thalassemia (n=1 296), β-thalassemia (n=505), α-composite β- thalassemia (n=100), and normal controls (n=1 748) based on genetic diagnosis. Hematological parameters, including mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), hemoglobin (Hb), and HbA2, as well as pregnancy outcomes such as low birth weight (LBW) and preterm birth, were compared among the groups. Multivariate Logistic regression was used to analyze the association between thalassemia genotypes and adverse outcomes. The optimal cut-off values of MCV and HbA2 for predicting α-composite β-thalassemia were determined using receiver operating characteristic (ROC) curve analysis. Results ·The predominant genotypes were --SEA/αα (50.62%) in α-thalassemia, βCD41-42/βN (46.93%) in β-thalassemia, and --SEA/αα combined with βCD17/βN (12.00%) in α-composite β-thalassemia. The levels of MCV, MCH, and Hb in the β-thalassemia group were significantly lower than those in the other groups (all P<0.001), while the HbA2 levels in the β-thalassemia group and the α-composite β-thalassemia group were significantly higher than those in the normal and α-thalassemia groups. The optimal cut-off values for predicting α-composite β-thalassemia were MCV ≤74.95 fL (AUC=0.788) and HbA2 ≥3.35% (AUC=0.867). β-thalassemia was an independent risk factor for LBW in offspring (aOR=1.785, 95%CI 1.051‒3.031, P=0.032). However, before adjustment for confounding factors, the α-composite β-thalassemia group exhibited the highest risk of LBW (OR=2.592, 95%CI 1.368‒4.912, P=0.004). Conclusion ·Thalassemia genotypes in pregnant women in Nanning, Guangxi, exhibit distinct regional patterns, with β-thalassemia and α-composite β-thalassemia significantly increasing LBW risk. Combined α- and β-thalassemia genetic testing is recommended for pregnant women with MCV ≤74.95 fL and HbA2≥3.35%, and those with β-thalassemia should be monitored as a high-risk group for LBW.

Key words： thalassemia; genotype; pregnancy outcome; cohort study

Cite this article

Li Jing , Liang Xuxia , Wu Hua , Zhang Chun , Lu Yanqun , Zhang Jihong . Genotypic distribution of thalassemia in pregnant women in Nanning, Guangxi, and its impact on pregnancy outcomes[J]. Journal of Shanghai Jiao Tong University (Medical Science), 2026 , 46(5) : 624 -632 . DOI: 10.3969/j.issn.1674-8115.2026.05.008

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