摘要
目的探讨不同基因型地中海贫血(简称地贫)孕妇妊娠各期贫血及铁代谢的特征。方法本研究为队列研究。回顾性选择2019年1月至2023年12月于广西壮族自治区妇幼保健院定期产前检查并分娩,且进行地贫基因检测的3303例单胎妊娠孕妇为研究对象,根据地贫基因检测结果分组:未携带地贫基因者为对照组(1539例),地贫基因携带者(1764例)再根据基因型进一步分为-α/αα组(326例)、--/αα或-α/-α组(649例)、点突变α-地贫组(201例)、β0-地贫组(368例)、β+-地贫组(91例)和α复合β-地贫组(129例)。分别于孕早期、中期、晚期检测血红蛋白(hemoglobin,Hb)及血清铁蛋白(serum ferritin,SF)含量。通过重复测量方差分析、LSD检验及Kruskal-Wallis秩和检验、Bonferroni校正多重检验比较各组、各孕期妊娠期贫血、铁储备的差异。结果相较于孕早期,各组孕妇孕中、晚期Hb下降(LSD检验,P值均<0.05),贫血程度加重(Bonferroni校正,P值均<0.017)。同一孕期各组贫血严重程度不同(H孕早期=918.20,H孕中期=1224.50,H孕晚期=980.19;P值均<0.001),Hb水平也不同(F孕早期=282.54,F孕中期=352.31,F孕晚期=239.02;P值均<0.001),其中β0-地贫组孕早期、中期、晚期中度贫血发生率[38.6%(142/368)、85.3%(314/368)和73.6%(271/368)]均高于其他组(Bonferroni校正,P值均<0.002),Hb水平[(102.1±8.9)、(92.0±7.3)和(94.6±7.7)g/L]均低于其他组(LSD检验,P值均<0.05)。各组孕妇随孕期进展SF水平逐渐下降(LSD检验,P值均<0.05),缺铁程度加重(Bonferroni校正,P值均<0.017),孕晚期地贫孕妇铁缺乏率为21.5%(79/368)~46.0%(150/326)。同一孕期内各组缺铁程度不同(H孕早期=79.13,H孕中期=203.98,H孕晚期=130.55;P值均<0.001),SF水平也不同(F孕早期=17.28,F孕中期=44.60,F孕晚期=31.87;P值均<0.001),其中孕中期、晚期β0-地贫组铁缺乏率[9.8%(36/368)和21.5%(79/368)]与其他组相比均最低(Bonferroni校正,P值均<0.002),β0-地贫组、β+-地贫组各孕期SF水平高于其他组(LSD检验,P值均<0.05)。结论地贫孕妇妊娠期可出现不同程度的铁缺乏,缺铁及贫血程度随孕周增加而加重,且不同基因型地贫孕妇妊娠期铁缺乏和贫血程度存在差异,临床应根据不同基因型对地贫孕妇进行个体化管理,动态监测贫血及铁代谢变化。
ObjectiveTo investigate the anemia conditions and characteristics of iron metabolism during different stages of pregnancy in women with different genotypes of thalassemia.MethodsThis cohort study selected 3303 singleton pregnant women who underwent regular prenatal examinations and genetic tests of thalassemia and were delivered at Maternal&Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2019 to December 2023.According to the results of thalassemia gene testing,the women were divided into groups:those without thalassemia genes served as the control group(1539 cases),and those with thalassemia genes(1764 cases)were further divided based on genotype into the-α/ααgroup(326 cases),--/ααor-α/-αgroup(649 cases),point mutationα-thalassemia group(201 cases),β0-thalassemia group(368 cases),β+-thalassemia group(91 cases),andαcombined withβ-thalassemia group(129 cases).Hemoglobin(Hb)and serum ferritin(SF)levels were measured in the first,second,and third trimester of pregnancy.Differences in anemia and iron reserves among the groups at different pregnancy stages were compared using repeated measures analysis of variance,LSD test,Kruskal-Wallis rank-sum test,and Bonferroni correction.ResultsCompared to the first trimester,Hb levels decreased in the second and third trimester across all groups(LSD test,all P<0.05),and the severity of anemia increased(Bonferroni correction,all P<0.017).The severity of anemia varied among the groups at the same pregnancy stage(H first trimester=918.20,H second trimester=1224.50,H third trimester=980.19;all P<0.001),and Hb levels also differed(F first trimester=282.54,F second trimester=352.31,F third trimester=239.02;all P<0.001).Theβ0-thalassemia group had higher rates of moderate anemia in the first,second,and third trimester of pregnancy[38.6%(142/368),85.3%(314/368),and 73.6%(271/368)]compared to other groups(Bonferroni correction,all P<0.002),and lower Hb levels[(102.1±8.9),(92.0±7.3),and(94.6±7.7)g/L]than other groups(LSD test,all P<0.05).As pregnancy progresses,SF levels in each group of pregnant women gradually decreased(LSD test,all P<0.05),and the degree of iron deficiency worsened(Bonferroni correction,all P<0.05).The iron deficiency rate in thalassemia pregnant women during the third trimester ranges from 21.5%(79/368)to 46.0%(150/326).The degree of iron deficiency varies among groups within the same gestational period(H first trimester=79.13,H second trimester=203.98,H third trimester=130.55;all P<0.001),and SF levels also differ(F first trimester=17.28,F second trimester=44.60,F third trimester=31.87;all P<0.001).Among them,theβ0-thalassemia group had the lowest iron deficiency rates in the second,and third trimesters[9.8%(36/368),and 21.5%(79/368)](Bonferroni correction,all P<0.002).SF levels in theβ0-thalassemia andβ+-thalassemia groups were higher than those in other groups during each gestational period(LSD test,all P<0.05).ConclusionsPregnant women with thalassemia may experience varying degrees of iron deficiency during pregnancy,with the severity of iron deficiency and anemia increasing with gestational age.The degree of iron deficiency and anemia during pregnancy varies among pregnant women with different genotypes of thalassemia.Clinically,individualized management should be provided for pregnant women with thalassemia based on their genotypes,with dynamic monitoring of anemia and iron metabolism changes.
作者
国林青
龙俊青
孔琳
李冬如
唐燕青
黄小凤
陈慧
覃钰芹
梁炎炎
韦红卫
Guo Linqing;Long Junqing;Kong Lin;Li Dongru;Tang Yanqing;Huang Xiaofeng;Chen Hui;Qin Yuqin;Liang Yanyan;Wei Hongwei(Department of Obstetrics,the Maternal&Child Health Hospital of Guangxi Zhuang Autonomous Region,Nanning 530003,China;Eugenics and Genetics Laboratory,the Maternal&Child Health Hospital of Guangxi Zhuang Autonomous Region,Nanning 530003,China;School of Public Health,Guangxi Medical University,Nanning 530003,China)
出处
《中华围产医学杂志》
北大核心
2025年第5期363-370,共8页
Chinese Journal of Perinatal Medicine
基金
广西医疗卫生适宜技术开发与推广应用项目(S2017061)。
