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Background  Rh blood group system is the most complex and immunogenetic blood group system. Prevalent  RHD  alleles vary in different populations. We conducted the present study to examine the genotype of DEL individuals and to elucidate whether novel alleles exist in the Chinese population.    Methods  DEL phenotype was identified by a serologic adsorption-elution method. The nucleotide sequences of ten  RHD  exons and exon-intron boundary regions were evaluated by  RHD  gene-specific PCR-SSP and sequencing.    Results  Of 42306 samples from individual donors and patients, 165 samples were typed as D-negative. Among these D-negative samples, 41 DEL individuals were observed. Thirty-seven DELs were confirmed to have the  RHD 1227A allele. Two DELs seemed to have  RHD-CE- D hybrid alleles, including one  RHD-CE  (4–7)-D and one  RHD-CE  (2–5)-D. Two novel  RHD  alleles were found among the rest of the DEL samples, including one  RHD 93T > A and one  RHD 838G > A.    Conclusion  In this study, about 24.85% (41/165) of the apparent D-negative Chinese individuals were DEL.  RHD 1227G > A is the most frequent allele in Chinese DEL phenotypes, accounting for 90.24% (37/41). The  RHD-CE -D hybrid allele might be the second most frequent DEL allele in the Chinese population. Our study would contribute to the understanding of the molecular mechanism underlying D antigen expression of DEL individuals and provide useful information for designing suitable genotyping strategies in RhD-negative individuals in Asia.

Molecular basis of DEL phenotype in the Chinese population