刘洋,王飞清,刘燕青,李红日,李艳菊
LIU Yang,WANG Feiqing,LIU Yanqing,LI Hongri,LI Yanju

• 1:贵阳中医学院第一附属医院检验科
• 2:贵州医科大学附院血液内科

摘要(Abstract)：

目的:探讨贵州省同基因型地中海贫血孕妇妊娠早期部分血常规检测结果差异。方法:330例年龄为20~35岁,孕3月产检确诊地中海贫血孕妇作为研究组,同期、同年龄段同孕期100例孕妇为对照组;采用PCR及导流杂交法检测确认研究组地中海贫血基因型,全自动血细胞仪检测两组受检者血液红细胞数量(RBC)、血红蛋白浓度(Hb)、平均红细胞体积(MCV)、平均红细胞血红蛋白量(MCH)、红细胞平均血红蛋白浓度(MCHC)及白细胞(WBC)计数。结果:缺失型α-地中海贫血孕妇(-α3. 7、--SEA、-α4. 2) RBC均高于对照组,Hb、MCV、MCH、MCHC均低于对照组,但只有--SEA基因型孕妇RBC、Hb、MCV、MCH与对照组比较差异有统计学意义(P <0. 05);突变型α-地中海贫血孕妇(αCS、αWS、αQS) RBC均高于对照组,Hb、MCV、MCH、MCHC均低于对照组,但只有αQS基因型孕妇RBC、MCV、MCH与对照组比较差异有统计学意义(P <0. 05);突变型β-地中海贫血孕妇(CD41/42、CD17、IVS-II-654、-28、CD27/28、CD43) RBC均高于对照组,但只有IVS-II-654、CD27/28基因型孕妇RBC与对照组比较差异有统计学意义(P <0. 05); Hb、MCV、MCH、MCHC均低于对照组,但只有CD41/42、CD17、IVS-II-654、-28、CD27/28基因型孕妇Hb明显低于对照组,差异有统计学意义(P <0. 05); CD41/42、CD17、IVS-II-654、-28、CD27/28基因型孕妇MCV、MCH明显低于对照组,差异有统计学意义(P <0. 05)。结论:不同基因型地中海贫血孕妇血液RBC、Hb、MCV、MCH、MCHC存在差异。
Objective: To investigate the difference of blood routine test results in early pregnancy of women with homogeneic thalassemia in guizhou province. Methods: 330 patients aged 20 ~ 35 years and diagnosed to be thalassemia in 3 months of pregnancy were selected as a study group; while 100 pregnant women with normal gestational age of 3 months in the same age group were randomly selected as control group. The genotype of thalassemia was confirmed by PCR and diversion hybridization;RBC,Hb,MCV,MCH,MCHC and WBC were detected by automatic blood cell analyzer. Results:The deletion type of alpha thalassemia patients(-α3. 7、--SEA、-α4. 2) RBC were higher than the control group,Hb,MCV,MCH and MCHC were lower than the control group;--SEA genotype pregnant women RBC,Hb,MCV and MCH were compared with those of the control group,the difference was statistically significant(P < 0. 05). The mutant alpha thalassemia pregnant women(αCS、αWS、αQS)RBC were higher than the control group; αQS genotype pregnant women RBC,MCV and MCH were compared with those of the control group,the difference was statistically significant(P < 0. 05). The mutant beta thalassemia pregnant women(CD41/42,CD17,IVS-II-654,-28,CD27/28,CD43)RBC were higher than the control group; IVS-II-654 and CD27/28 genotype pregnant women RBC were compared with those of the control group,the difference was statistically significant(P < 0. 05).Hb,MCV,MCH,MCHC were lower than the control group,CD41/42,CD17,CD27/28 genotype of pregnant women Hb was significantly lower than those of the control group,the difference was statistically significant(P < 0. 05). And CD41/42,CD17,ivs-ii-654,-28,and cd27/28 pregnant women MCV and MCH were significantly lower than those of the control group,and the difference was statistically significant(P < 0. 05). Conclusion: The blood levels of RBC,Hb,MCV,MCH,MCHC and WBC in pregnant women with different genotypes of thalassemia were significantly different.

关键词(KeyWords)： 地中海贫血;基因;孕妇;血常规
thalassemia;gene;pregnant women;blood routine test

Abstract:

Keywords:

基金项目(Foundation): 国家自然科学基金资助项目(31660326);; 贵州省科技厅资助项目[黔科合基础(2016)1019]

作者(Author): 刘洋,王飞清,刘燕青,李红日,李艳菊
LIU Yang,WANG Feiqing,LIU Yanqing,LI Hongri,LI Yanju

DOI: 10.19367/j.cnki.1000-2707.2018.11.012

参考文献(References)：

• [1]MODELL B,DARLISON M,BIRGENS H,et al. Epidemiology of haemoglobin disorders in Europe:an overview[J]. Scand J Clin Lab Invest,2007,67(1):39-69.
• [2] WEATHERALL D J. Hemoglobinopathies worldwide:present and future[J]. Curr Mol Med,2008,8(7):592-599.
• [3]熊盈,余艳红,杨芳,等.妊娠合并地中海贫血的研究进展[J].现代妇产科进展,2014,23(6):495-496.
• [4]李广华,荣卡彬,罗燕飞,等.利用孕妇血浆中的胎儿DNA进行β-地中海贫血的产前诊断[J].南方医科大学学报,2011,31(8):1437-1439.
• [5]李妹燕,韦敬锡,吴惠珍,等.轻型地中海贫血患者妊娠期血红蛋白、铁蛋白水平变化及妊娠结局分析[J].山东医药,2014,54(20):17-19.
• [6]ARI I S,EDHYANA S,GATOT W,et al. Low hemoglobin among pregnant women in midwives practice of primary health care,jatinangor,indonesia:Iron deficiency anemia orβ-thalassemia trait[J]. Anemia,2017,5(1):1-5.
• [7] Patrícia S R C,Amélia L P,MARCOS B V. Clinical complications in pregnant women with sickle cell disease:prospective study of factors predicting maternal death or near miss[J]. Rev Bras Hematol Hemoter,2014,36(4):256-263.
• [8]TSIANAKAS V. Offering antenatal sickle cell and thalassaemia screening to pregnant women in primary care:a qualitative study of GPs'experiences[J]. Br J Gen Pract,2010,60(580):822-828.
• [9]周玉球,李文典.β-地中海贫血的表型筛查和基因诊断[J].中国生育健康,2010,12(6):143.
• [10]ZUGUO M,RAFAEL C,LAURENCE M,et al. Is erythrocyte protoporphyrin a better single screening test for iron deficiency compared to hemoglobin or mean cell volume in children and women[J]. Nutrients,2017,9(6):557-563.
• [11]万里凯,陈彦红,田矛,等.超声检测妊娠12~28周胎儿脐动、静脉内径对地中海贫血产前筛查的价值探讨[J].中华超声影像学杂志,2011,20(9):542-545.
• [12]司徒文慈,阙贵珍,胡映红,等. MCV、RDW和RBC脆性在产前筛查地中海贫血中的价值[J].实用医学杂志,2011,27(16):2976-2977.
• [13]何英,张银辉,吴润香,等.红细胞平均体积、脆性以及毛细管血红蛋白电泳联合检测在产前地中海贫血诊断中的价值[J].国际检验医学杂志,2013,34(19):2521-2523.
• [14]IHANPRASERTPONG T,KOR-ANANTAKUL O,LEETANAPORN R, et al. Pregnancy outcomes amongst thalassemia traits[J]. Arch Gynecol Obstet,2013,288(5):1051-1054.
• [15]VICKI T,BHSC H D,KARI A,et al. Offering antenatal sickle cell and thalassaemia screening to pregnant women in primary care:a qualitative study of women’s experiences and expectations of participation[J]. Health Expect,2012,15(2):115-125.
• [16]KALLISTHENI F,EFSTATHIOS G,IOANNA T,et al.Rapid iron loading in a pregnant woman with transfusiondependent thalassemia after brief cessation of iron chelation therapy[J]. Eur J Haematol,2008,81(2):157-159.

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