Blood transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran.
Mol Genet Genomic Med. 2021 Jul;9(7):e1701. doi: 10.1002/mgg3.1701. Epub 2021 May 8.
Serological methods may not be reliable for RBC antigen typing, especially in multi-transfused patients. The blood group systems provoking the most severe transfusion reactions are mainly Rh, Kell, Kidd, and Duffy. We intended to determine the genotype of these blood group system antigens among Iranian alloimmunized thalassemia patients using molecular methods and compare the results with serological phenotyping.
Two hundred patients participated in this study. Blood group phenotype and genotype were determined using the serological method and PCR-SSP, respectively. The genotypes of patients with incompatibility between phenotype and genotype were re-evaluated by RFLP-PCR and confirmed by DNA sequencing.
Discrepancies between phenotype and genotype results were found in 132 alleles and 83 (41.5%) patients; however, there was complete accordance between the three genotyping methods. Most discrepancies were detected in Rh and Duffy systems with 47 and 45 cases, respectively, and the main discrepancy was in the FYB/FYB allele when serologically showed Fy(a+b+). All 39 undetermined phenotypes, due to mixed-field reactions, were resolved by molecular genotyping.
Molecular genotyping is more reliable compared with the serological method, especially in multi-transfused patients. Therefore, the addition of blood group genotyping to serological assays can lead to an antigen-matched transfusion in these patients.
血清学方法可能无法可靠地进行 RBC 抗原定型,尤其是在多次输血的患者中。引起最严重输血反应的血型系统主要是 Rh、Kell、Kidd 和 Duffy。我们旨在使用分子方法确定伊朗自身免疫性地中海贫血患者这些血型系统抗原的基因型,并将结果与血清表型进行比较。
本研究共有 200 名患者参与。使用血清学方法和 PCR-SSP 分别确定血型表型和基因型。通过 RFLP-PCR 重新评估表型和基因型不匹配患者的基因型,并通过 DNA 测序进行确认。
在 132 个等位基因和 83 名(41.5%)患者中发现表型和基因型结果存在差异;然而,三种基因分型方法之间完全一致。Rh 和 Duffy 系统检测到的差异最多,分别为 47 和 45 例,主要差异在于 FYB/FYB 等位基因时血清学显示 Fy(a+b+)。由于混合场反应,所有 39 种未确定的表型均通过分子基因分型得以解决。
与血清学方法相比,分子基因分型更可靠,尤其是在多次输血的患者中。因此,将血型基因分型添加到血清学检测中可以为这些患者提供抗原匹配的输血。