妊娠合并血红蛋白H病12例临床分析

Clinical analysis of 12 pregnancies complicated by hemoglobin H disease

目的分析妊娠合并血红蛋白H(hemoglobin H,HbH)病患者的临床特征,评估孕前贫血程度对母儿预后的影响。方法以2017年1月1日至2022年12月31日广州医科大学附属第三医院收治的12例经基因检测确诊的HbH病孕妇为研究对象,通过描述性统计分析,回顾性研究这12例患者的地中海贫血基因型、孕前和孕期一般情况及母儿结局等临床资料。结果12例患者根据孕前贫血程度分为中度贫血组(Hb<90 g/L,n=5)与轻度贫血组(Hb≥90 g/L且<110 g/L,n=7)。中度贫血组中1例为缺失型HbH病,其余4例非缺失型;均有输血史;孕期4例进展为重度贫血,4例出现胎儿生长受限。轻度贫血组包括6例缺失型和1例非缺失型患者;孕期均未进展为重度贫血或有输血需求。母儿结局方面,中度贫血组2例选择放弃胎儿并引产;3例剖宫产分娩,其中2例早产伴轻度窒息,1例足月产。轻度贫血组中1例因胎儿宫内死亡引产,其余6例中阴道自然分娩2例、产钳助产1例,剖宫产3例;分娩的6例患者中,1例早产,1例新生儿重度窒息,4例发生产褥感染或产后出血等并发症。结论HbH病患者的临床表现差异大,可根据孕前贫血程度进行分层管理,中度贫血者孕期需更密切监测和管理,以改善母儿预后。

ObjectiveTo explore the clinical characteristics of hemoglobin H(HbH)disease during pregnancy,and evaluate the impact of prepregnant anemia on maternal and fetal outcomes.MethodsClinical data of 12 pregnant women,who were diagnosed with HbH disease by genetic testing in the Third Affiliated Hospital of Guangzhou Medical University from January 1,2017,to December 31,2022,were retrospectively collected.Thalassemia genotypes,general conditions before and during pregnancy,and perinatal outcomes were analyzed using descriptive analysis.ResultsThe 12 patients were categorized into moderate anemia(Hb<90 g/L,n=5)and mild anemia(Hb≥90 g/L and<110 g/L,n=7)groups according to the level of Hb before conception.In the moderate anemia group,with one deletional HbH disease and four non-deletional type,all had blood transfusion histories,and four developed severe anemia during pregnancy with four cases of fetal growth restriction.The mild anemia group comprised six deletional and one non-deletional genotype,with no severe anemia or transfusion requirement during pregnancy.In terms of maternal and fetal outcomes,two moderate anemia cases opted for pregnancy termination,while three delivered via cesarean section with two preterm infants having mild asphyxia and one full-term.In the mild anemia group,one case terminated due to intrauterine fetal death,and the remaining six continued the pregnancies,including two were delivered normally,one was assisted by forceps,and three through cesarean section.Among the six delivered cases,one was preterm birth,one infant was born with severe asphyxia and four mothers developed postpartum complications such as puerperal infection and postpartum hemorrhage.ConclusionsClinical manifestations of HbH disease vary greatly.Individualized management should be offered based on the degree of anemia before pregnancy.For women with moderate anemia,close monitoring and appropriate intervention are required during pregnancy to improve both maternal and infant outcomes.