Table 1.
Alleles for which a DEL phenotype has been described [32]
| Allele (Trivial name) | Structure | Haplo-type | Mechanism | Phenotype | Distribution* | References | Comments |
|---|---|---|---|---|---|---|---|
| RHD(M1I) | RHD(3G>A) | Variable | loss of start codon | DEL | R (China, Germany) | [33] | |
| RHD(R10W) (Weak D type 61) | RHD(28C>T) | CDe | MIS | DEL, weak D | R | [33] | DEL phenotype if categorized by tube testing; independently characterized as weak D AM412754 |
| RHD(W16R) | RHD(46T>C) | cDE | MIS | DEL | S (Switzerland) | HE999546 | |
| RHD(W16X) | RHD(48G>A) | CDe | STOP in exon 1 | D-negative, DEL | R (Germany) | [8] | reported as DEL (same donor tested on three donations as DEL) in a later study [35] |
| RHD(L18P) | RHD(53T>C) | MIS | DEL | S (China) | [33] | ||
| RHD(93insT) | RHD(93insT) | CDe | FS in exon 1 | DEL | R (Germany, Denmark, Spain) | [34] | DEL status reported in follow-up study[28] |
| RHD(L38X) | RHD(113T>A) | STOP in exon 1 | DEL? | S (Germany) | [35] | ||
| RHD(147delA) | RHD(147delA, IVSl+6delA) | CDe | FS in exon 1 | DEL | S (Germany) | [28] | |
| RHD(IVS1+1G>A) | RHD(IVS1+1G>A) | SPL | DEL | S (Japan) | [36] | ||
| RHD(IVS1-29G>C) | RHD(IVS1-29G>C) | CDe | SPL | DEL | S (Poland) | HE971139 | this allele was initially reported as RHD(IVS2-29G>C) |
| RHD(L84P) | RHD(251T>C) | MIS | DEL | S (China) | [33] | comparably high antigen density | |
| RHD(IVS2-2A>G) | RHD(IVS2-2A>G) | CDe | SPL | DEL | S (Denmark) | [9] | |
| RHD(S112T) | RHD(IVS1-29G>C, 335G>C) | SPL | DEL | S (Switzerland) | HE999547 | both mutations affect the splice site | |
| RHD(A137E) | RHD(410C>A) | CDe | MIS | DEL | S (China) | [37] | DEL status according to tube IAT |
| RHD(L153P) | RHD(458T>C) | cDE | MIS | DEL | S (Germany) | [28] | |
| RHD(IVS3+1G>A) | RHD(IVS3+1G>A) | CDe | SPL | DEL / D-negative / Partial DEL | R (Germany, Denmark, Poland, Austria) | [8] | this allele is almost D-negative |
| RHD(G212R) | RHD(634G>C) | cDe | missense mutation / splice site affected | DEL | S (Germany) | [28] | |
| RHD(IVS5-38del TCTC) | RHD(IVS5-38del TCTC) | CDe | unknown | DEL | S (Austria) | [24] | the IVS5-38 del TCTC polymorphism is also found in RHD alleles with normal antigen strength and therefore not causative [38] |
| RHD(P291R) | RHD(872C>G) | CDe | MIS | DEL | S (Switzerland) | HE999545 | the same missense mutation occurs in the DEL weak D type 4.3 |
| RHD(T201R, F223V, P291R) (weak D type 4.3) | RHD(602C>G,667T >G,819G >A,872C>G) | cDe | MIS | DEL | R (Austria, Germany) | [39] | the DEL phenotype is probably caused by the P291R substitution |
| RHD(M295I) | RHD(885G>T) | CDe | MIS | DEL / weak D | R (Germany) | [8] | borderline DEL / weak D. The same mutation in a cDe haplotype causes the weak D type 11 phenotype. |
| RHD(IVS8-31 T>C) | RHD(IVS8-31 T>C) | CDe | SPL | D-negative/ DEL/ weak D | R (Germany) | [35] | |
| RHD(Y401X) | RHD(1203T>A) | cDE | STOP near 3’ end | DEL D-negative | R | [23] | initially described as D-negative, reported as DEL in another study [28] |
| RHD(D404H) | RHD(1210G>C) | cDE | MIS | DEL | S (Portugal) | JX114749 | |
| RHD(W408R) | RHD(1222T>C) | CDe | MIS | DEL | S (Korea) | [40] | |
| RHD(K409K) | RHD(1227G>A) | CDe | SPL | DEL | Most frequent DEL in Asia [26] | [8] | this allele has initially been misinterpreted as RHD(delEx9) |
| RHD(X418L) | RHD(1252ins T) | CDe | loss of STOP | DEL | R (Austria, Germany) | [23] | |
| RHD-RHCE(2–5)-RHD | RHD-RHCE(2–5)-RHD | CDe? | hybrid allele | Partial D, DEL | S (China) | [33] | the predicted structure is similar to DVI type IV, a partial D frequent in Spain [41]. The reason for the different phenotype is unknown. |
| RHD-RHCE(4–9)- RHD | RHD-RHCE(4-9)-RHD | large hybrid | D-negative, DEL | R (China) | [37] | this allele was initially characterized as D-negative but appeared as DEL in one study [37] | |
| DBU | RHD-RHCE(5-7)-RHD | cDE | loss of D-specific exofacial loops | DEL, Expected partial D | S (Germany) | [28] | |
| RHD(delEx8) | RHD(delEx8) | CDe | 995 bp deletion including exon 8 | DEL | one pedigree (Libanese) | [42] | |
| RHD(delEx9) (obsolete) | the observations of this allele represent RHD(K409K) [43] | ||||||
| RHD(delEx10) | [44] | ||||||
| RHD-RHCE(10) (obsolete?) | RHD-RHCE(10) | [37] | the observation of this allele likely represent RHD(delEx10) |
MIS = Missense mutation; STOP = stop codon; SPL = splice site mutation; FS = frameshift; S = single observation; R = repeatedly observed.