探讨北京地区妊娠合并地中海贫血病例的识别及管理。

回顾分析北京大学首钢医院2016年10月至2022年6月诊治的6例妊娠合并地中海贫血的病例资料，并结合文献讨论。

6例患者均为初诊，因血常规结果异常疑诊妊娠合并地中海贫血，通过基因检测最终确诊，均为轻型地中海贫血，其中4例为α-地中海贫血，2例为β-地中海贫血。6例患者孕期均存在不同程度缺铁性贫血，根据血清铁蛋白水平予补铁治疗。其中3例α-地中海贫血孕妇于本院经阴道分娩，1例α-地中海贫血孕妇尚未分娩；1例β-地中海贫血孕妇于我院行剖宫产分娩，1例β-地中海贫血孕妇于外院经阴道分娩。3例患者的子代可疑为地中海贫血。

北京地区为地中海贫血的低发病率地区，易被漏诊误诊，血常规联合血清铁蛋白检测可作为妊娠合并地中海贫血的初筛方法，及早识别、确定诊断，孕产期进行合理干预及预防母儿并发症，对提升孕产妇保健水平和改善子代健康具有重大意义。

To investigate the identification and management of pregnant women with mild thalassemia in Beijing.

Clinical data of 6 pregnant women diagnosed with thalassemia at Peking University Shougang Hospital between October 2016 and June 2022 were analyzed retrospectively.

All the six cases were newly-diagnosed patients and suspected as having thalassemia due to routine blood test abnormalities, and confirmed by genetic tests. They all had mild thalassemia, with 4 cases of α-thalassemia and 2 cases of β-thalassemia. They experienced varying levels of iron deficiency anemia during pregnancy and were treated according to serum ferritin levels. Three α-thalassemia patients delivered vaginally, while the left one was still in pregnancy. One β-thalassemia patient delivered by caesarean section at our hospital and another delivered vaginally at other hospital. Three newborns were suspected as having thalassemia.

Thalassemia can be easily misdiagnosed since it has a low incidence rate in Beijing. Routine blood test combined with serum ferritin test could be used as a preliminary screening method for thalassemia in pregnant women. Early identification and diagnosis, reasonable intervention, and prevention of maternal and child complications are of great significance for maternal health care and offspring health.