An effective diagnostic strategy for accurate detection of RhD variants including Asian DEL type in apparently RhD-negative blood donors in Korea

作者：Seo M H; Won E J; Hong Y J; Chun S; Kwon J R; Choi Y S; Kim J N; Lee S A; Lim A H; Kim S H; Park K U; Cho D

来源：Vox Sanguinis, 2016, 111(4): 425-430.

DOI：10.1111/vox.12450

• cost-effective
• genotyping
• phenotyping
• RHD
• strategy

Background and ObjectivesThe purpose of this study was to provide an effective RHD genotyping strategy for the East Asian blood donors.
Material and MethodsRhD phenotyping, weak D testing and RhCE phenotyping were performed on 110 samples from members of the RhD-negative club, private organization composed of RhD-negative blood donors, in the GwangJu-Chonnam region of Korea. The RHD promoter, intron 4, and exons 7 and 10 were analysed by real-time PCR. Two nucleotide changes (c.1227 G>A, and c.1222 T>C) in exon 9 were analysed by sequencing.
ResultsOf 110 RhD-negative club members, 79 (718%) showed complete deletion of the RHD gene, 10 (91%) showed results consistent with RHD-CE-D hybrid, and 21 (191%) showed amplification of RHD promoter, intron 4, and exons 7 and 10. Of the latter group, 16 (145%) were in the DEL blood group including c.1227 G>A (N = 14) and c.1222 T>C (N = 2), 2 (18%) were weak D, 1(09%) was partial D, and 2 (18%) were undetermined. The RhD-negative phenotype samples consisted of 58 C-E-c+e+, 19 C-E+c+e+, 3 C-E+c+e-, 21 C+E-c+e-, 6 C+E-c+e+ and 3 C+E-c-e + . Notably, all 58 samples with the C-E-c+e+ phenotype were revealed to have complete deletion of the RHD gene. The C-E-c+e+ phenotype showed 100% positive predictive value for detecting D-negative cases.
ConclusionsRHD genotyping is not required in half of D-negative cases. We suggest here an effective RHD genotyping strategy for accurate detection of RhD variants in apparently RhD-negative blood donors in East Asia.

• 出版日期2016-11