目的·探讨广西南宁地区地中海贫血（简称地贫）孕妇的基因型分布特征及其对妊娠结局的影响。方法·采用回顾性队列研究设计，纳入2021年1月至2024年12月在广西壮族自治区人民医院建档的3 649例孕妇，根据地贫基因诊断结果分为α地贫（1 296例）、β地贫（505例）、α复合β地贫（100例）及正常孕妇（1 748例）。比较各组血液学参数包括平均红细胞体积（mean corpuscular volume，MCV）、平均红细胞血红蛋白含量（mean corpuscular hemoglobin，MCH）、血红蛋白（hemoglobin，Hb）水平、HbA₂水平，以及妊娠结局包括低出生体质量儿（low birth weight，LBW）、早产等；采用多因素Logistic回归分析地贫基因型与不良妊娠结局的关联。通过受试者操作特征（receiver operating characteristic，ROC）曲线确定MCV和HbA₂预测α复合β地贫的最佳截断值。结果·α地贫以--^SEA/αα（50.62%）为主，β地贫以βCD41-42/β^N（46.93%）为主，α复合β地贫以--^SEA/αα复合βCD17/β^N（12.00%）为主。β地贫组MCV、MCH、Hb水平显著低于其他组（均P<0.001），β地贫组和α复合β地贫组HbA₂均显著高于正常组和α地贫组（均P<0.001）。α复合β地贫孕妇的MCV截断值为74.95 fL（AUC=0.788），HbA₂截断值为3.35%（AUC=0.867）。β地贫是子代LBW的独立危险因素（aOR=1.785，95%CI 1.051⁓3.031，P=0.032）；而在未调整混杂因素前，α复合β地贫组表现出最高的LBW风险（OR=2.592，95%CI 1.368⁓4.912，P=0.004）。结论·广西南宁地区地贫孕妇基因型分布具有地域特征，β地贫和α复合β地贫显著增加子代LBW风险；可对MCV≤74.95 fL且HbA₂≥3.35%的孕妇联合进行α和β地贫基因检测，并将β地贫孕妇列为LBW高危人群加强监测。

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/β^N (46.93%) in β-thalassemia, and --^SEA/αα combined with βCD17/β^N (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.