RHD*01N.08
(ISBT table: RHD negative v4.0)
This entry is an RHD allele.
RHD(W16X), RHD*48A, RHD*48A (W16*, RHD*01N.08), RHD*48G>A,
Molecular data
Nucleotides:
48G>A;
Amino acids: W16*;
Hybrid allele encompassing at least one RHCE exon:
no
Comments on the molecular basis:
Extracellular position of one or more amino acid substitutions:
- No RhD protein is expected to be produced. However a DEL or D positive phenotype has been reported (see Phenotype section), implying the contrary. The resulting antigen may have an altered conformation.
Splicing:
Unconventional prediction methods:
Phenotype
Main D phenotype: DEL (last update: May 4, 2020)Reports by D phenotype
Other RH phenotypes: RH:-3,
- RH:-3 inferred from the reported RHCE phenotypes of the carriers
Serology with monoclonal anti-D
Antigen Density (Ag/RBC)
More phenotype data
Rhesus Similarity Index
Haplotype
Main CcEe phenotype association: Ce (last update: Aug. 15, 2020)| ce | Ce | cE | CE | |
|---|---|---|---|---|
| ce | 0 | 8 | 0 | 0 |
| Ce | 2 | 0 | 0 | |
| cE | 0 | 0 | ||
| CE | 0 |
Reports by CcEe phenotype
Reports by allele association
Alloimmunization
Antibodies in carriers
Antibody specificity: D (RH1)
Summary: D negative, at risk for anti-D (last update: Aug. 25, 2020)Detailed information
Antibodies in D negative recipients
Alloimmunization in recipients: expected to be possible, see phenotype data
Reports
Summary: few descriptions, possible German or Swiss descent (last update: Dec. 22, 2019)Detailed reports
- 2/8442 8442 donors with D negative phenotype, screened for presence of the RHD gene in two surveys; 754 donors were C and/or E positive, the rest were ccee phenotype; 5 donors were revealed to be weakly D positive in the German population (Baden-Wurttemberg)
- 2/96 among almost 3 million blood donations, 621685 had D negative phenotype; 46133 donors were first time donors with D negative phenotype and, when tested, 96 had RHD intron 4 in the German population
- 3/163 selected variants included for the development of a genotyping assay mainly in the Dutch population (samples may have been included in other studies)
-
1/26243 donors with D negative phenotype in three studies with different inclusion criteria in the Swiss population (Zurich and Berne)
(study may overlap with
24679597 ) -
1/25370 donors with D negative phenotype, screened for RHD exons 3 or 7, plus 5 and 10 in the Swiss population
(study may overlap with
24656493 ) - 1/1174 donors with D negative phenotype United States population (Los Angeles)
- 1/136000 among about 136.000 donors with D negative phenotype, systematically tested for the presence of the RHD gene; the RHD gene was detected in 300 donors in the German population (some samples may overlap with other studies)
-
1/46,756 first time donors with D negative phenotype, tested for RHD exon 7 and adsorption-elution with a polyclonal anti-D in the German population (Northern)
(overlaps with
999999913 ; some samples may overlap with full publications) (overlaps with999999988 ; some samples may overlap with19243542 )
Allele or phenotype frequency
- 1/22727 (CI: 1/6798 - 1/128041) estimated allele frequency by testing 8442 donors with D negative phenotype, screened for presence of the RHD gene in two surveys; 754 donors were C and/or E positive, the rest were ccee phenotype; 5 donors were revealed to be weakly D positive in the German population (Baden-Wurttemberg)
Structure mapping
| Movement | Mouse Input | Touch Input | ||
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| Rotation | Primary Mouse Button | Single touch | ||
| Translation | Middle Mouse Button or Ctrl+Primary | Triple touch | ||
| Zoom | Scroll Wheel or Second Mouse Button or Shift+Primary | Pinch (double touch) | ||
| Slab | Ctrl+Second | Not Available |
References
- International Society of Blood Transfusion et al. International Society of Blood Transfusion (ISBT) allele table Online ressource, 1935. — Online ressource — [RHeference]
- Wagner FF et al. RHD positive haplotypes in D negative Europeans. BMC Genet, 2001. [Citation] [RHeference]
- Wagner FF et al. The DAU allele cluster of the RHD gene. Blood, 2002. [Citation] [RHeference]
- Flegel WA et al. Six years' experience performing RHD genotyping to confirm D- red blood cell units in Germany for preventing anti-D immunizations. Transfusion, 2009. [Citation] [RHeference]
- Stabentheiner S et al. Overcoming methodical limits of standard RHD genotyping by next-generation sequencing. Vox Sang, 2011. [Citation] [RHeference]
- F F Wagner et al. Single Adsorption / Elution with Anti-D May Be Insufficient to Determine the D Antigen Status of Very Weak DEL Alleles Transfusion, 2012. — Abstract — [RHeference]
- Wagner FF et al. RHD PCR of blood donors in Northern Germany: use of adsorption/elution to determine D antigen status Vox Sanguinis, 2012. — Abstract — [RHeference]
- Haer-Wigman L et al. RHD and RHCE variant and zygosity genotyping via multiplex ligation-dependent probe amplification. Transfusion, 2013. [Citation] [RHeference]
- Gowland P et al. Molecular RHD screening of RhD negative donors can replace standard serological testing for RhD negative donors. Transfus Apher Sci, 2014. [Citation] [RHeference]
- Crottet SL et al. Implementation of a mandatory donor RHD screening in Switzerland. Transfus Apher Sci, 2014. [Citation] [RHeference]
- Wagner F. et al. Results of more than ten years testing of RhD negative first time donors by RHD PCR Transfus Med Hemother, 2019. — Abstract — [RHeference]
- Perez-Alvarez I et al. RHD genotyping of serologic RhD-negative blood donors in a hospital-based blood donor center. Transfusion, 2019. [Citation] [RHeference]
- Floch A et al. Comment from Rheference Online ressource, 2020. — Online ressource — [RHeference]
Last update: May 4, 2020