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基于DNA的血型分型在多次输血的镰状细胞病患者管理中的应用

DNA-based typing of blood groups for the management of multiply-transfused sickle cell disease patients.

作者信息

Castilho Lilian, Rios Maria, Bianco Celso, Pellegrino Jordão, Alberto Fernando L, Saad Sara T O, Costa Fernando F

机构信息

Hematology and Hemotherapy Center, State University of Campinas (Unicamp), Campinas, SP, Brazil.

出版信息

Transfusion. 2002 Feb;42(2):232-8. doi: 10.1046/j.1537-2995.2002.00029.x.

Abstract

BACKGROUND

The usefulness of DNA genotyping for RBC antigens as a tool for the management of multiply-transfused patients with sickle cell disease (SCD) to overcome the limitations of hemagglutination assays was evaluated.

STUDY DESIGN AND METHODS

Blood samples from 40 multiply-transfused SCD patients were studied by hemagglutination and by PCR-RFLP for antigens or genes in the Rh (D, C/c, E/e), Kell, Kidd, and Duffy systems.

RESULTS

Discrepancies were found between hemaglutination and DNA typing test results in six patients: two were discrepant in Rh typing (one was D- by hemagglutination and RhD by DNA, and one was E+e- and RhEe by DNA), two were discrepant in Duffy typing [both were Fy(a+b-) and Fy(b)/Fy(b) by DNA], and four were discrepant in Kidd typing [Jk(a+b+) and Jk(b)/Jk(b) by DNA; two of these samples were also discrepant in Duffy]. Stored segments from blood units that had been recently transfused to these six recipients were phenotyped, confirming that the transfused RBCs were the source of the discrepancy between genotype and phenotype.

CONCLUSION

DNA typing of blood groups by PCR-RFLP in peripheral blood WBCs contributes to the management of transfusions in SCD patients by allowing a more accurate selection of donor units.

摘要

背景

评估了红细胞抗原DNA基因分型作为一种工具,用于管理多次输血的镰状细胞病(SCD)患者,以克服血凝试验局限性的实用性。

研究设计与方法

采用血凝试验和聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP),对40例多次输血的SCD患者血液样本中的Rh(D、C/c、E/e)、Kell、Kidd和Duffy系统中的抗原或基因进行研究。

结果

在6例患者中发现血凝试验和DNA分型检测结果存在差异:2例Rh分型存在差异(1例血凝试验为D-,DNA检测为RhD;1例血凝试验为E+e-,DNA检测为RhEe),2例Duffy分型存在差异(二者血凝试验均为Fy(a+b-),DNA检测均为Fy(b)/Fy(b)),4例Kidd分型存在差异(DNA检测为Jk(a+b+)和Jk(b)/Jk(b);其中2份样本Duffy分型也存在差异)。对最近输给这6例受血者的血袋中留存的血样进行表型分析,证实输入的红细胞是基因型与表型差异的来源。

结论

通过外周血白细胞的PCR-RFLP进行血型DNA分型,有助于更准确地选择供体单位,从而对SCD患者的输血进行管理。

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