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目的:探讨新生儿溶血病换血治疗时血型基因配对检查的可行性,指导新生儿溶血病的诊断和换血治疗。方法:选择白云区第一人民医院具有高胆红素血症,不同程度的贫血和水肿,血清学方法鉴定血型均表现为ABO血型正反定型不符的10例患儿标本为研究对象,通过序列特异性聚合酶链扩增技术(PCR-SSP)和基因测序技术对样本进行基因分型,并采用换血疗法对确诊的ABO血型系统新生儿溶血病患者行换血治疗,对比换血前后的患者血清总胆红素、直接胆红素和间接胆红素及Na~+、K~+、Cl~+和Ca~(2+)含量情况,评价换血治疗效果。结果:高精度的PCR-SSP和基因测序的血型基因分型结果完全相同,发现10例患者中有3例为cis-AB01、2例为B(A)04,分别各有1例cis-AB02、B(A)02、Bel03、Bw12和Ael05;对10例患儿换血治疗后血清总胆红素、直接胆红素和间接胆红素及K~+含量显著低于治疗前,差异具有统计学意义(P<0.01),而Ca~(2+)、Cl~+和Na~+的含量显著高于治疗前,差异均具有统计学意义(P<0.01)。结论:PCR-SSP和基因测序技术可以用于溶血病换血治疗时ABO血型正反定型不符的ABO疑难血型的鉴定定型,血型基因配对检查具有良好的临床应用价值。
Objective: To investigate the feasibility of blood group gene pairing examination in neonatal hemolytic disease transfusion and to guide the diagnosis and exchange transfusion of neonatal hemolytic disease. Methods: The First People’s Hospital of Baiyun District had hyperbilirubinemia with different degrees of anemia and edema. Serum samples were identified by the positive and negative typing of ABO blood samples in 10 children. Specific polymerase chain reaction (PCR-SSP) and gene sequencing techniques were used to genotype the samples. Blood transfusions were performed on patients with confirmed ABO blood group hemolytic disease, Bilirubin, direct bilirubin and indirect bilirubin as well as Na ~ +, K ~ +, Cl ~ + and Ca ~ (2+) contents were evaluated. Results: The genotyping results of PCR-SSP and gene sequencing were identical. The results showed that 3 of 10 patients were cis-AB01, 2 were B (A) 04 and 1 was cis-AB02 , B (A) 02, Bel03, Bw12 and Ael05. The levels of total bilirubin, direct bilirubin, indirect bilirubin, and K ~ + in 10 children with transfusions were significantly lower than those before treatment (P <0.01), while the contents of Ca ~ (2 +), Cl ~ + and Na ~ + were significantly higher than those before treatment (P <0.01). Conclusion: The PCR-SSP and gene sequencing techniques can be used to identify and characterize ABO blood group with incompatible ABO blood group positive and negative typing in the treatment of hemolytic disease and blood transfusion. Pairs of blood group genes have good clinical value.