Application of blood group genotyping in complex cases of immunohematology.

IF 0.6 Q4 HEMATOLOGY Asian Journal of Transfusion Science Pub Date : 2023-07-01 Epub Date: 2022-12-12 DOI:10.4103/ajts.ajts_171_21

Letícia Binhara Musial, Caroline Luise Prochaska, Mariane Faria Moss, Bruno Ribeiro Cruz

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Abstract

Background: Red blood cell (RBC) group systems are depicted by antigens on the surface of RBCs, which when transfused to a recipient that lacks them, can result in alloimmunization. Thus, transfusion of matched RBC components to the recipient is recommended, especially for the more immunogenic blood group antigens, such as Rh (E, e, C, and c), Kell, Kidd, Duffy, and MNS.

Aims: The aim of this study was to perform the blood group genotyping from blood samples of 12 polytransfused patients whose phenotyping was inconclusive or incomplete.

Methods: The amplicons were amplified by polymerase chain reaction-sequence-specific primers for the following alleles: RHCE (RHCE * C, RHCE * c, RHCE * E, and RHCE * e), KEL (KEL * 01 and KEL * 02), FY (FY * 01 and FY * 02), and KID (JK * 01 and JK * 02), in addition to the GATA1-mutated gene (FY * 02N.01).

Results: Discrepancies were found in the Rh (E) and Kidd systems, in addition to cases of Fyb antigen silencing attributed to the GATA mutation, which was present in all individuals with Fy (a-b-) phenotype. The technique also solved the inconclusive phenotyping caused by mixed-field agglutination.

Conclusion: The results show the contribution of blood group genotyping in complex immunohematology cases, optimizing the delivery of RBC components suitable for transfusion safety, and expanding the number of compatible donors for patients with the Fy (a-b) phenotype related to the FY (02N.01) allele.

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血型基因分型在免疫血液学复杂病例中的应用。

背景：红细胞（RBC）的血型系统是由红细胞表面的抗原来描述的，当输给缺乏这些抗原的受血者时，会导致同种免疫。因此，建议向受血者输注匹配的红细胞成分，尤其是免疫原性较高的血型抗原，如 Rh（E、e、C 和 c）、Kell、Kidd、Duffy 和 MNS：方法：用聚合酶链反应序列特异性引物扩增以下等位基因的扩增子：RHCE（RHCE * C、RHCE * c、RHCE * E和RHCE * e）、KEL（KEL * 01和KEL * 02）、FY（FY * 01和FY * 02）和KID（JK * 01和JK * 02），此外还有GATA1突变基因（FY * 02N.01）：结果：除了 GATA 基因突变导致的 Fyb 抗原沉默（所有 Fy（a-b-）表型个体均存在该突变）外，Rh（E）和 Kidd 系统中也发现了差异。该技术还解决了混合场凝集造成的表型不确定问题：结论：研究结果表明，血型基因分型在复杂的免疫血液学病例中的作用，它优化了适合输血安全的红细胞成分的输送，并扩大了与 FY（02N.01）等位基因相关的 Fy（a-b）表型患者的相合供体数量。

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