The efficacy of ethnic specific blood groups genotyping for routine donor investigation and rare donor identification in Taiwan

Abstract

Background: Large-scale single nucleotide variation (SNV)-based blood group genotyping assays have been made available for over a decade. Due to differences in ethnic groups, there is much diversity in clinically important blood group antigens and genetic variants. Here, we developed a robust matrix-assisted laser desorption/ ionization time-of-flight (MALDI-TOF)-based blood group genotyping method on MassARRAY system. Study Design andMethods: A total of 1428 donors were enrolled into three groups: (a) reagent red cell donors; (b) rare donor or common antigen-negative donors; and (c) group O, R 1 R 1 /R 2 R 2 donors. Forty-two SNVs were designed for determining nine blood groups, with X/Y chromosome in two multiplex reactions, on MassARRAY 96-well format system. Further targeted sequence analyses were performed by Sanger sequencing.Results: WHO reference reagent (NIBSC code: 11/214) was tested for concordance with the provided genotype results. Among the donors, concordance rate was over 99%. Alleles of important phenotypes such as Mi(a+), Di(a+), and Asian-type DEL and alleles of rare blood groups such as Fy(aÀ), Jk(aÀbÀ) and sÀ were screened.Three types of discrepancies were found. Serologically, the 'N' antigen was expressed on genetically MM with GYP*Mur red blood cells and caused genuine discrepancies (9.5%). Genetically, allele dropout (ADO) was caused by rare SNV in the primer for Ss genotype (2.1%) and partial insertion of RHD genes (0.9%) led to difficulties in predicting phenotypes. Conclusion:Hemo panel module and MassARRAY System in 96-well format showed good performance in terms of large-scale blood group genotyping and phenotype predictions. Implementation of this method is effective for routine blood group genotype screening of donors.

Fully genotyping and screening of clinically important blood‐group antigens by MALDI TOF mass spectrometry

“…In 2017, Tanaka et al developed a genotyping system for the detection of JR blood type in Japanese population [13]. In addition, a blood-typing detection system, including antigens, such as Mia, Dia, Jk(a+ weak), and Jk(a−b−), was established for the Chinese Taiwan population by Yang et al in 2021 [14]. However, the reported detection systems or commercial kits only target other regions/populations or lack clinically significant rare-blood-group antigen sites of the Mongolia population.…”

Rare blood group registry in India-current challenges and future perspectives

“…The chance of getting a rare blood group is higher in this group than in the random population. The same is true for screening of donors from a similar racial or ethnic background, which could be of great value ( Yang et al, 2022 ). But for all these activities, the primary requirement is to have access to the rare group antisera and blood group genotyping facility, which is still at a very nascent stage in India.…”