TABLE 2.
Detection of 23 RHD alleles in 96 serologically D− RHD gene carriers
| Allele | Phenotype | Haplotype | Nucleotide change | Number of donors observed | Reference |
|---|---|---|---|---|---|
| RHD-CE(8–9)-D* | D− | CDe | RHD-CE-D hybrid | 17 | Wagner et al.13 |
| RHD(IVS3+1G>A) | DEL | CDe | IVS3+1G>A | 16 | Wagner et al.13 |
| RHDΨ | D− | cDe | Multiple | 14 | Singleton et al.19 |
| weak D type 11 | DEL | CDe | 885G>T | 14 | Wagner et al.13 |
| RHCE(1–3)-D(4–10)* | D− | cDE | RHCE-D hybrid | 4 | This study |
| RHD(147delA)† | DEL | CDe | Deletion of A at 147 | 4 | AM998539 |
| RHD(K409K) | DEL | CDe | 1227G>A | 4 | Wagner et al.13 |
| RHD(IVS3+2T>A) | D− | cDE | IVS3+2T>A | 3 | AM998540 |
| RHD(W16X) | D− | CDe | 48G>A | 2 | Wagner et al.13 |
| RHD(93_94insT) | DEL | CDe | Insertion of T at 93_94 | 2 | AM998541, Nogues et al.30 |
| RHD(343delC) | D− | CDe | Deletion of C at 343 | 2 | AM998542 |
| RHD(R318X) | D− | CDe | 952C>T | 2 | AM998543 |
| RHD(X418L) | DEL | CDe | Insertion of T at 1252_53 | 2 | Gassner et al.9 |
| RHD(V56M, W90X) | D− | CDe | 166G>A, 270G>A | 1 | AM998544 |
| RHD(L153P) | DEL | cDE | 458T>C | 1 | AM998545 |
| DBU* | DEL | cDE | RHD-CE(5–7)-D hybrid | 1 | AM945964 |
| RHD(G212R) | DEL | cDe | 634G>C | 1 | AM998546 |
| RHD(660delG) | D− | CDe | Deletion of G at 660 | 1 | AM998547 |
| RHD(712delG) | D− | CDe | Deletion of G at 712 | 1 | AM998548 |
| RHD(786delA) | D− | CDe | Deletion of A at 786 | 1 | AM998549 |
| RHD(Y269X) | D− | CDe | 807T>A | 1 | AM998550 |
| RHD(Y401X)‡ | DEL | cDE | 1203T>A | 1 | Gassner et al.9 |
| RHD § | DEL | CDe | Normal RHD | 1 | This study |
*
These possible RHD-CE-D hybrid alleles could also be caused by partial deletions and, in case of RHCE(1–3)-D(4–10) and DBU, by combinations of hybrid alleles.
†
Intron deletion IVS1+6delA present in all four samples.
‡
While this mutant was previously described as D−,9 our sample was DEL.
§
Corresponding to normal RHD with respect to the nucleotide sequence of the 10 exons and flanking regions, including 115 nucleotides in 5′UTR, 38 in 3′UTR, and at least 10 nucleotides of the intron sequences flanking the exons.