Table 1.
Clinical laboratory results for mother and neonate
| Test | Results (normal range) |
|---|---|
| Maternal | |
| Transfusion medicine † | |
| ABO group | B |
| RhD phenotype | Serologic weak D phenotype: 2 + reaction strength‡ |
| RhCE phenotype | C–E–c+e+ |
| Antibody screen | Anti-U |
| DAT | Negative |
| Red cell genotyping† | |
| RHD allele | RHD*weak D type 4.0 |
| RHD zygosity | Hemizygous |
| Hematology † | |
| Hemoglobin, g/dL | |
| Antepartum | 9.8 (10.0–15.0) |
| Postpartum | 8.9 (10.0–15.0) |
| Neonatal | |
| Transfusion medicine § | |
| ABO group | B |
| RhD phenotype | D+ |
| RhCE phenotype | C–E–c+e+ |
| DAT | Negative |
| Red cell genotyping§ | |
| RHD allele | RHD*weak D type 4.0 and normal RHD |
| RHD zygosity | Compound heterozygous |
| Hematology | |
| Hemoglobin, g/dL | 17.6 (14.0–24.0) |
| Unconjugated bilirubin, mg/dL | |
| At birth | 4.9 (<6) |
| 4 hours after birth | 5.5 (<6) |
| Reticulocyte count, % | 4.46 (3.0–7.0) |
Table 2.
Single nucleotide variants detected in the RHD gene
| RHD genotype | |||||
|---|---|---|---|---|---|
| Location | Nucleotide change* | dbSNP reference number | Protein residue change† | Mother‡ | Neonate |
| Promoter | −368a>g | rs28710826 | NA | g/g | a/g |
| Intron 2 | 336−76_−75−>insTGAA | rs112473736 | NA | insTGAA/insTGAA | insTGAA/− |
| Intron 3 | 487−414a>g | rs28586271 | NA | g/g | a/g |
| 487−316t>g | rs28572396 | NA | g/g | t/g | |
| Exon 4 | 602C>G | rs1053355 | Thr201Arg | G/G | C/G |
| Exon 5 | 667T>G | rs1053356 | Phe223Val | G/G | T/G |
| Intron 5 | 801+219 t> g | rs28510210 | NA | g/g | g/g |
| 801+395g>a | rs145236797 | NA | a/a | g/a | |
| 802−16c>t | rs201120463 | NA | t/t | c/t | |
| Exon 6 | 819G>A | rs150606530 | Ala273Ala | A/A | G/A |
| Intron 6 | 939+295c>a | rs112222730 | NA | c/c | c/a |
| Intron 7 | 1073+94g>a | rs533903485 | NA | a/a | g/a |
| 1073 + 311g> c | rs3118453 | NA | c/c | c/c | |
1* Nucleotide substitutions are shown relative to the reference sequence (NG_007494.1). Nucleotide positions are defined using the first nucleotide of the coding sequence of NM_016124.4 isoform as nucleotide position 1. The uppercase nucleotides are located in the coding sequence, and the lowercase nucleotides are located in the non-coding sequence of the RHD gene.
2† Relative to the National Center for Biotechnology Information (NCBI) Reference Sequence NP_057208.2.