RhD变异体Type33型受血者同种免疫产生抗-D合并抗-E混合抗体的研究

Studyon the Production of Anti-D and Anti-E Mixed Antibodies by Alloimmunizationin RhD Variant Type33 Recipients

目的:探讨1例RhD阳性患者免疫产生抗-D合并抗-E混合抗体的原因。方法:用常规血清学方法鉴定ABO/Rh血型和不规则抗体特异性,采用序列特异性引物聚合酶链式反应(PCR-SSP)检测患者的RHD基因外显子1-10区域并进行杂合性分析,利用一代测序方法分析全外显子序列。结果:患者Rh血型为弱D Type33型,其RHD等位基因为RHD01W.33,患者表现为RHD+/RHD-杂合型,Rh分型为Ccee,产生了抗-D合并抗-E混合抗体。结论:该患者RHD基因外显子4发生了c.520G>A的突变,这一变异导致了红细胞上RhD抗原的表达减弱。

Objective:To investigate the cause of the production of anti-D and anti-E mixed antibody in an RhD positive patient.Methods:The ABO/Rh blood group typing and irregular antibody specificity were identified by conventional serological methods,the RHD gene exon 1-10 and heterozygous analysis were performed by sequence-specific primer polymerase chain reaction(PCR-SSP),and the whole exon sequence was analyzed by first-generation sequencing.Results:The patient’s Rh blood group was weak D Type33,with the allele was RHD01W.33,the patients was found to be RhD+/RHD-heterozygous,with an Rh typing of Ccee,and the patient had developed anti-D combined with anti-E mixed antibodies.Conclusion:The patient has A c.520G>A mutation in exon 4 of the RHD gene,to lead decreased expression of RhD antigen in red blood cells and the anti-D and anti-E mixed antibodies were produced by transfusion immunostimulation.