北京地区妊娠合并轻型地中海贫血六例临床分析

Clinical analysis of six cases of pregnant women with mild thalassemia in Beijing

目的探讨北京地区妊娠合并地中海贫血病例的识别及管理。方法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。结果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。结论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。

Objective To investigate the identification and management of pregnant women with mild thalassemia in Beijing.Methods Clinical data of 6 pregnant women diagnosed with thalassemia at Peking University Shougang Hospital between October 2016 and June 2022 were analyzed retrospectively.Results 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.Conclusion 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.