Rh缺失型D--导致新生儿溶血病的血液免疫学分析及家系调查
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摘要
目的:分析1例新生儿溶血病产生的原因,初步探讨产妇Rh缺失型D--形成的遗传背景。方法:通过血型血清学方法对产妇、患儿标本进行ABO、Rh血型鉴定,直接抗人球蛋白试验,抗体筛查与鉴定试验,抗体释放试验、游离抗体检查及抗体效价测定,并做家系血型调查。通过分子生物学方法对RHD基因和RHCE基因第1～10外显子进行测序。结果:患儿血型为A型、DCCee,直接抗人球蛋白试验、游离抗体检查、抗体释放试验均为阳性。产妇血型为A型、D--,产生了IgG性质的抗-Hr_0抗体,效价是512,家系中只有先证者为D--。产妇RHD基因完整,RHCE基因缺失2～8外显子,基因表型为D(1～10)CE(1,9,10)。结论:产妇Rh缺失型D--由RHCE基因缺失产生,多次妊娠产生抗-Hr_0抗体导致新生儿溶血病。
Objective:To analyze the causes of one case of hemolytic disease of the newborn,and investigate the genetic background of maternal Rh deletion D-formation. Method:By using blood group serological method,ABO and Rh blood group identification,direct antiglobulin test,antibody screening and identification test,antibody release test,free antibody test and antibody titer test were carried out on puerpera and child specimens.Family blood group survey was also conducted.The sequence of Exon 1-10 in RHD and RHCE gene were sequenced by molecular biological methods. Result:The blood group of this child was A type and DCCee.Both the results of direct antiglobulin test,free antibody test and antibody release test were positive.The maternity blood group was identified to be A type,D--;the parturient had produced anti maternityblood group was identified to be A type,D--;the parturient had produced anti IgG-Hr_0 antibodies;the titer was 512;only the proband was D--in this family.The genotype of RHD was identified to be complete,the deletion of Exon 2-8 in RHCE gene was detected,and the phenotype was found to be D(1-10)CE(1,9,10)in the parturient.Conclusion:The Rh deletion D--type of maternal was caused by deletion of RHCE gene,and the parturient producing anti-Hr_0 antibody caused by multiple pregnancy will lead to the hemolytic disease of newborn.
Objective:To analyze the causes of one case of hemolytic disease of the newborn,and investigate the genetic background of maternal Rh deletion D-formation. Method:By using blood group serological method,ABO and Rh blood group identification,direct antiglobulin test,antibody screening and identification test,antibody release test,free antibody test and antibody titer test were carried out on puerpera and child specimens.Family blood group survey was also conducted.The sequence of Exon 1-10 in RHD and RHCE gene were sequenced by molecular biological methods. Result:The blood group of this child was A type and DCCee.Both the results of direct antiglobulin test,free antibody test and antibody release test were positive.The maternity blood group was identified to be A type,D--;the parturient had produced anti maternityblood group was identified to be A type,D--;the parturient had produced anti IgG-Hr_0 antibodies;the titer was 512;only the proband was D--in this family.The genotype of RHD was identified to be complete,the deletion of Exon 2-8 in RHCE gene was detected,and the phenotype was found to be D(1-10)CE(1,9,10)in the parturient.Conclusion:The Rh deletion D--type of maternal was caused by deletion of RHCE gene,and the parturient producing anti-Hr_0 antibody caused by multiple pregnancy will lead to the hemolytic disease of newborn.
引文
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[7] 伍伟健,郭如华,丁肖华.1例Rh缺失型D--导致新生儿溶血病临床及家系的调查分析[J].中国生物制品学杂志,2009,22(8):812-814.
[8] Gong Y,Ai Y,Zhou R.Rare case of hemolytic death of the newborn due to anti-hr0 and anti-e[J].J Obstet Gynaecol Res,2011,37:465-467.
[2] 尚红,王毓三,申子瑜.全国临床检验操作规程[M].4版.北京:人民卫生出版社,2015:118-139.
[3] 刘素芳,庄光艳,刘亚庆,等.1例D--型患者抢救成功报告[J].北京医学,2012,34(2):140-140.
[4] 桑胜云,胡荣芬.Rh缺失型-D-1例[J].临床血液学杂志,2000,13(3):130-130.
[5] 余忠清,梁涛,胡丽华.新生儿溶血病临床研究进展[J].中华临床医师杂志(电子版),2011,5(12):3554-3556.
[6] 张秀铮,王守燕,张韦,等.Rh缺失型D--血清免疫学和基因分析及在输血中的应用[J].国际输血及血液学杂志,2015,38(1):24-27.
[7] 伍伟健,郭如华,丁肖华.1例Rh缺失型D--导致新生儿溶血病临床及家系的调查分析[J].中国生物制品学杂志,2009,22(8):812-814.
[8] Gong Y,Ai Y,Zhou R.Rare case of hemolytic death of the newborn due to anti-hr0 and anti-e[J].J Obstet Gynaecol Res,2011,37:465-467.