Human DIIIA Erythrocytes: RhD protein is associated with multiple dispersed amino acid variations

The DAU allele cluster of the RHDgene

“…9,34 Although carriers of partial D are more frequent in African populations, 25 more than 25 partial D alleles are predominantly observed in Europeans and to date only 5 partial D alleles were typical for Africans. 12,16,[24][25][26] Thus, the identification of the DAU cluster increased the number of "African" partial D considerably. Because anti-D immunization may occur in carriers of DAU alleles, our molecular characterization is instrumental for evaluating the clinical relevance in transfusion recipients.…”

“…This result predicted the homozygous or hemizygous presence of an RHD (L62F, A137V, N152T, T201R, F223V) allele that was dubbed DIII type 5, because of its similarity to the molecular structure described for mditDIIIa. 12 …”

“…11 Molecular analysis revealed that there are often multiple missense mutations, rather than single ones. 12 The molecular characterization of RHD alleles was hampered in Africans by the frequent occurrence of RHD, 13 Ccde s , 14 or the concomitant presence of 2 different partial D alleles. RHD and Ccde s do not express a D antigen, yet they harbor a grossly intact RHD allele or an RHD-CE-D hybrid allele, respectively, that often interferes with RHD polymerase chain reaction (PCR) and RHD-specific sequencing.…”

DNB: a partial D with anti-D frequent in Central Europe

“…1 The molecular bases were gene conversions, 2 single missense mutations in the exofacial protein segments, 3 and multiple missense mutations dispersed throughout the RhD protein. 4 A partial D needs to be considered for transfusion strategies if its carriers are frequent, easily anti-D immunized, and likely to receive D-positive units in the case of transfusion. D category VI 5 is the classical example.…”

DIIIa and DIII Type 5 are encoded by the same allele and are associated with altered RHCE*ce alleles: clinical implications

“…In 1997, the partial D phenotype DIIIa was reported to be due to the replacement of three RHD nucleotides by equivalent nucleotides from RHCE , specifically Nucleotide 455A>C located in Exon 3 and predicted to encode a Asp152Thr change in the RhD protein, Nucleotide 602C>G in Exon 4 encoding a Thr201Arg, and Nucleotide 667T>G in Exon 5 encoding Phe223Val 4. Following that report, several alleles were identified that had some or all of these replacements, but with additional changes (Table 1), and these were designated DIII Type 4,5 Type 5,6 Type 6, and Type 7 7…”