Results of the samples (n = 35) genotyped for the RHD gene using NGS
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Gray indicates D− alleles; green, DEL alleles; blue, weak D alleles; orange, partial D alleles; yellow, novel variant alleles; and red, inconclusive results.
Del, deletion; Ins, insertion; NA, not applicable; Neg, negative; NR, not reported; pos/Pos, positive; SNV, single-nucleotide variation.
International Society of Blood Transfusion (ISBT) designation for alleles.
Linked haplotype reported in the RhesusBase database.
To assign the most possible DCE haplotype, RhCcEe genotyping results, RHD zygosity results, and RHD allele determined by NGS were all considered.
Allele frequency was calculated based on the total number of RhD− females (16 253).
Routine RhD phenotyping was negative, but antigen titer was 1 after elution.
RHD*11 occurs in 2 haplotypes with distinct phenotypes. In the DCe haplotype, the phenotype is borderline weak D/DEL, whereas in the Dce haplotype, the phenotype is weak D detected in routine tests.
Samples failed amplicon 6 in LR-PCR, thus incomplete data.
Sample failed amplicons 1, 2, and 3 in LR-PCR.
This sample had RHD5/AGO1 and RHD7/AGO1 ratios of ∼1 from ddPCR and was considered homozygous for the RHD gene. The NGS data indicated that the sample is a compound heterozygote with 2 variant RHD alleles.