Comparison of allele frequencies between participants in the SWiTCH trial (n = 54) and children with SCA from CHP (n = 488)
| Rh genotype . | Rh phenotype . | Diagnostic nucleotide changes (cDNA) . | SWiTCH cohort . | CHP cohort . | P . |
|---|---|---|---|---|---|
| RHD* | |||||
| Deleted D | D– | 0.1666 | 0.1445 | .5678 | |
| Inactive Dψ | D– | In3-19 (37 bp), 609G>A, 654G>C, 667T>G, 674C>T, 807T>G | 0.0185 | 0.0297 | .7616 |
| DIIIa-CE(4-7)-D | D–, partial C+ | 186G>T, 410C>T, 455A>C | 0.0648 | 0.0277 | .0721 |
| D | D+ | 0.5648 | 0.5410 | .7601 | |
| DAU0 | D+ (unknown) | 1138C>T | 0.1019 | 0.1619 | .1239 |
| DAU3 | Partial D+ | 835G>A, 1138C>T | 0.0278 | 0.0113 | .1588 |
| DAR | Partial D+ | 602C>G, 667T>G, 1025C>T | 0.0093 | 0.0041 | .4116 |
| D 4.0 | Partial D+ | 602C>G, 667T>G | 0.0278 | 0.0256 | .7553 |
| DIIIa | Partial D+ | 186G>T, 410C>T, 455A>C, 602C>G, 667T>G | 0.0185 | 0.0123 | .6435 |
| Others | NA | 0.0419 | NA | ||
| RHCE* | |||||
| ce | c+, e+ | 0.2407 | 0.2490 | .9068 | |
| Ce | C+, e+ | 48G>C, 150T>C, 178C>A, 201A>G, 203A>G, 307C>T | 0.0926 | 0.1199 | .4360 |
| cE | c+, E+ | 676G>C | 0.0463 | 0.0871 | .1969 |
| ce48C | c+, e+ (unknown) | 48G>C | 0.2130 | 0.1926 | .6118 |
| ce48C 733G | Partial c+, partial e+ | 48G>C, 733C>G | 0.0556 | 0.0686 | .6911 |
| ce733G | Partial c+, partial e+ | 733C>G | 0.1852 | 0.1455 | .3200 |
| ce254G | Partial c+, partial e+ | 254C>G | 0.0370 | 0.0471 | .8107 |
| ce1025T | Partial c+, partial e+ | 1025C>T | 0.0093 | 0 | .1005 |
| ceJAL | Partial c+, partial e+ | 340C>T, 733C>G | 0.0093 | 0.0010 | .1909 |
| ceCF | Partial c+, partial e+ | 48G>C, 697C>G, 733C>G | 0.0093 | 0.0020 | .2724 |
| ceS | Partial c+, partial e+ | 48G>C, 733C>G, 1006G>T | 0.0833 | 0.0379 | .0408 |
| ceAR | Partial c+, partial e+ | 48G>C, 712A>G, 733C>G, 787A>G, 800T>A, 916A>G | 0.0093 | 0.0031 | .3457 |
| cE48C | c+, E+ (unknown) | 676G>C, 48G>C | 0.0093 | 0.0010 | .1909 |
| Rh genotype . | Rh phenotype . | Diagnostic nucleotide changes (cDNA) . | SWiTCH cohort . | CHP cohort . | P . |
|---|---|---|---|---|---|
| RHD* | |||||
| Deleted D | D– | 0.1666 | 0.1445 | .5678 | |
| Inactive Dψ | D– | In3-19 (37 bp), 609G>A, 654G>C, 667T>G, 674C>T, 807T>G | 0.0185 | 0.0297 | .7616 |
| DIIIa-CE(4-7)-D | D–, partial C+ | 186G>T, 410C>T, 455A>C | 0.0648 | 0.0277 | .0721 |
| D | D+ | 0.5648 | 0.5410 | .7601 | |
| DAU0 | D+ (unknown) | 1138C>T | 0.1019 | 0.1619 | .1239 |
| DAU3 | Partial D+ | 835G>A, 1138C>T | 0.0278 | 0.0113 | .1588 |
| DAR | Partial D+ | 602C>G, 667T>G, 1025C>T | 0.0093 | 0.0041 | .4116 |
| D 4.0 | Partial D+ | 602C>G, 667T>G | 0.0278 | 0.0256 | .7553 |
| DIIIa | Partial D+ | 186G>T, 410C>T, 455A>C, 602C>G, 667T>G | 0.0185 | 0.0123 | .6435 |
| Others | NA | 0.0419 | NA | ||
| RHCE* | |||||
| ce | c+, e+ | 0.2407 | 0.2490 | .9068 | |
| Ce | C+, e+ | 48G>C, 150T>C, 178C>A, 201A>G, 203A>G, 307C>T | 0.0926 | 0.1199 | .4360 |
| cE | c+, E+ | 676G>C | 0.0463 | 0.0871 | .1969 |
| ce48C | c+, e+ (unknown) | 48G>C | 0.2130 | 0.1926 | .6118 |
| ce48C 733G | Partial c+, partial e+ | 48G>C, 733C>G | 0.0556 | 0.0686 | .6911 |
| ce733G | Partial c+, partial e+ | 733C>G | 0.1852 | 0.1455 | .3200 |
| ce254G | Partial c+, partial e+ | 254C>G | 0.0370 | 0.0471 | .8107 |
| ce1025T | Partial c+, partial e+ | 1025C>T | 0.0093 | 0 | .1005 |
| ceJAL | Partial c+, partial e+ | 340C>T, 733C>G | 0.0093 | 0.0010 | .1909 |
| ceCF | Partial c+, partial e+ | 48G>C, 697C>G, 733C>G | 0.0093 | 0.0020 | .2724 |
| ceS | Partial c+, partial e+ | 48G>C, 733C>G, 1006G>T | 0.0833 | 0.0379 | .0408 |
| ceAR | Partial c+, partial e+ | 48G>C, 712A>G, 733C>G, 787A>G, 800T>A, 916A>G | 0.0093 | 0.0031 | .3457 |
| cE48C | c+, E+ (unknown) | 676G>C, 48G>C | 0.0093 | 0.0010 | .1909 |
The allele frequency was similar (two-sided Fisher’s exact test). Only the specific alleles shared by both groups are shown. The alleles in the SWiTCH cohort comprised 95.8% of RHD and 95.5% of RHCE alleles also present in the larger CHP cohort.
cDNA, complementary DNA.