摘要
目的:探讨长期输血的重型β地中海贫血(地中海贫血)患儿不规则抗体的产生情况及其与患儿RH因子基因型和地中海贫血基因突变位点之间的关联性,为地中海贫血患儿临床安全有效输血治疗提供新的实验依据。方法:收集246例在本院定期输血的重型β地中海贫血患儿外周血,抽提基因组DNA,运用PCR-SSP法检测患儿Rh因子(C/c、E/e)的基因型,用血型血清学方法筛选不规则抗体并鉴定它们的抗体类型,PCR体外扩增结合DNA芯片反向点杂交技术分析患儿的地中海贫血基因型。结果:246例患儿RH因子基因型主要为Ce/Ce(143/246,58.1%)、CE/ce(59/246,24%)、c E/c E(14/246,5.7%)、Ce/ce(12/246,4.9%);不规则抗体的阳性率为7.7%(19/246),其中抗-E 7例(7/19),抗-c 5例(5/19),抗-C 2例(2/19),抗-E/抗-c 2例(2/19),抗-e 1例(1/19),抗-D抗体2例(2/19);19例不规则抗体阳性患儿中,RH因子的基因分型为:Ce/Ce 11例(11/19),CE/ce 2例(2/19),c E/c E 2例(2/19),Ce/ce 2例(2/19),c E/ce 2例(2/19);19例不规则抗体阳性患儿地中海贫血基因突变位点分别为:CD41-42M 13例(13/19),CD71-72M 2例(2/19),IVS-II654M 3例(3/19),-28M 1例(1/19)。结论:长期输血治疗的地中海贫血患儿不规则抗体的产生与RH因子的基因型、患儿的地中海贫血基因突变位点可能具有关联性,本研究对于有效预防地中海贫血患儿红细胞同种免疫反应,提高其临床输血的有效性与安全性具有一定的意义。
Objective:To investigate the irregular antibody production and its relationship with Rh factor genotypes and the loci of thalassemia gene mutations for the β-thalassemic children with long-term transfusion,so as provide experimental basis for clinical safe and effective transfusions for thalassemic children.Methods:The peripheral blood from246 children with β-thalassemia was collected in our hospital;the extraction of genomic DNA and Rh factor(C/c,E/e)genotypes were assayed by PCR-SSP method,the irregular antibodies were screened and identified by serological method,the genotypes for thalassemia and gene mutations were analysed by PCR-RD method.Results:The genotypes of Rh factors classified by PCR-SSP in the 246 cases of β-thalassemia children were as follws:Ce/Ce(143/246,58.1%),CE/ce(59/246,24%),cE/cE(14/24 5.7%),Ce/ce(12/246,4.9%);The positive rate of irregular antibody was7.7%(19/246),including anti-E(7/19),anti-c(5/19),anti-C^(2/19),anti-E and anti-c(2/19),anti-e(1/19),anti-D)(2/19);Of the 19 cases with positive irregular antibody,the genotypings of Rh factor were:Ce/Ce(11/19),CE/ce(2/19),cE/cE(2/19),Ce/ce(2/19),cE/ce(2/19);the gene mutations location of thalassemia for 19 cases with positive irregular antibody:CD41-42M(13/19),CD71-72M(2/19),IVS-Ⅱ-654M(3/19),-28M(1/19).Conclusion:The irregular antibody production for β-thalassemic children with long-term transfusion may have some relevance with Rh factor genotypes and thalassemia genetic mutations.This study possesses a certain significance for effective prevention of RBC alloimmune response of β-thalassemia children and improvement of efficacy and safety of clinical transfasion blood.
出处
《中国实验血液学杂志》
CAS
CSCD
北大核心
2015年第6期1657-1661,共5页
Journal of Experimental Hematology
基金
深圳市科技创新基础研究项目(JCYJ20130401110246572)
深圳市第二人民医院院级重点实验室项目(201505)
