关于1例RhC/E基因缺失患者的输血思考

Reflection on blood transfusion in a patient with RhC/E gene deletion

采用单克隆抗体血清试管凝集法对该患者ABO血型及Rh抗原表型进行鉴定,同时采用基因测序对Rh抗原缺失情况进行确认。Rh分型盐水法该患者抗D为阳性,抗-E、-C、-c、-e均阴性。抗体筛查盐水法Ⅰ~Ⅲ号细胞均为阴性,凝聚胺和抗人球蛋白实验均阳性,抗体鉴定1~16号谱细胞均阳性,自身为阴性,直接抗球蛋白实验阴性。RhC/E基因测序结果显示,9~10号外显子正常,1~8号外显子缺失。患者因RhC/E基因1~8号外显子缺失,导致该患者Rh抗原E/e、C/c表达的缺失,而患者经过第1次随机配合性输血之后,产生了针对E/e、C/c的抗体,导致其第2次输注红细胞类产品时主侧配型不合,无法输注,针对此类情况,一是建立RhC/E基因缺失稀有血型库;二是在第一次输血时,应尽量输注少量RH抗原红细胞;三是开展储存式自体输血。

The patient′s ABO blood type and Rh antigen phenotype were identified by monoclonal antibody serum test tube agglutination,and Rh antigen deletion was confirmed by gene sequencing.The ABO blood type and Rh antigen phenotype of the patient were identified using monoclonal antibody serum in vitro agglutination assay,and Rh antigen deletion was confirmed using gene sequencing.The Rh typing saline method showed that the patient was positive for anti D,but negative for anti E,-C,-c,and-e.The saline method for antibody screening showed negative results for cells I to III,positive results for polyamine and anti human globulin tests,positive results for antibody identification cells 1 to 16,and negative results for themselves.Direct anti globulin tests showed negative results.The sequencing results of RhC/E gene showed that exons 9-10 were normal,while exons 1-8 were missing.The patient had a deletion of exons 1-8 of the RhC/E gene,resulting in a loss of Rh antigen E/e and C/c expression.After the first random matching transfusion,the patient produced antibodies targeting E/e and C/c,resulting in an incompatibility between the main and side matching during the second infusion of red blood cell products and the inability to transfuse.In order to solve this situation,first we need to establish a rare blood group bank for Rh C/E gene deletion.Secondly,during the first blood transfusion,a small amount of RH antigen red blood cells should be injected.Stored autologous blood transfusion should also be considered.