RHD*01N.61
(ISBT table: RHD negative v4.0)
This entry is an RHD allele.
RHD(R318X), RHD(R318X) [RHD*952C>T], RHD*952C>T, RHD*952T, RHD*952T (R318*, RHD*01N.61),
Molecular data
Nucleotides:
952C>T;
Amino acids: R318*;
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: D negative or DEL (last update: Jan. 6, 2021)Reports by D phenotype
Other RH phenotypes: RH:-2, -3, -4,
Serology with monoclonal anti-D
Antigen Density (Ag/RBC)
More phenotype data
Rhesus Similarity Index
Haplotype
Main CcEe phenotype association: Ce is the most frequent association (last update: Jan. 8, 2021)| ce | Ce | cE | CE | |
|---|---|---|---|---|
| ce | 0 | 1 | 1 | 0 |
| Ce | 3 | 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: Jan. 6, 2021)Detailed information
Antibodies in D negative recipients
Alloimmunization in recipients: expected to be possible, see phenotype data
Reports
Summary: several descriptions, mainly reported in European populations (last update: Jan. 6, 2021)Detailed reports
- 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
- 1/7 donors with D negative phenotype (out of donor population 22000), C or E positive (leaves: 233 donors) and amplification of RHD exon 10 (leaves:7) Danish
- 1/316 316 (280 D positive and 36 D negative) donors were genotyped African descent (FY:-1,-2) in the French population
-
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 ) - 3/37782 270 women with variant alleles among 37782 women with D negative phenotype, tested by quantitative fetal RHD genotyping designed to detect RHD exons 5 and 7 in the Dutch population
- 1/200 donors with D negative phenotype (DEL phenotype excluded) Thai
- 1/185 RH:–1,–4 or RH:–1,–5 recipients reported by a French lab
- 17/310 donors with D negative phenotype, C and/or E positive in the Italian population
-
3/46,756 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 ) - 2 to 10 /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)
- 1/16,253 samples of pregnant women with D negative of weak D (2+ or less), screened for fetal RHD in the Finnish population
- 1 hemizygote among 278 samples selected for the development of nonspecific quantitative next-generation sequencing. (non-random samples, may have been reported in other studies)
Allele or phenotype frequency
Structure mapping
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References
- International Society of Blood Transfusion et al. International Society of Blood Transfusion (ISBT) allele table Online ressource, 1935. — Online ressource — [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]
- Christiansen M et al. RHD positive among C/E+ and D- blood donors in Denmark. Transfusion, 2010. [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]
- Crottet SL et al. Implementation of a mandatory donor RHD screening in Switzerland. Transfus Apher Sci, 2014. [Citation] [RHeference]
- Kappler-Gratias S et al. Systematic RH genotyping and variant identification in French donors of African origin. Blood Transfus, 2014. [Citation] [RHeference]
- Stegmann TC et al. Frequency and characterization of known and novel RHD variant alleles in 37 782 Dutch D-negative pregnant women. Br J Haematol, 2016. [Citation] [RHeference]
- Jérôme Babinet et al. Erratum à l’article : « Résumés des Posters » [Transfus. Clin. Biol. 24 (2017) 3S] Transfusion Clinique et Biologique, 2018. — Abstract — [RHeference]
- Izaskun Apraiz et al. Performance Evaluation Study of ID RHD XT as a Molecular Tool for RHD Gene Screening in Pooled Blood Samples of Serologically D− C/E+ Donors Transfusion, 2019. — Abstract — [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]
- Tammi SM et al. Next-generation sequencing of 35 RHD variants in 16 253 serologically D- pregnant women in the Finnish population. Blood Adv, 2020. [Citation] [RHeference]
- Thongbut J et al. Comprehensive Molecular Analysis of Serologically D-Negative and Weak/Partial D Phenotype in Thai Blood Donors. Transfus Med Hemother, 2020. [Citation] [RHeference]
- Floch A et al. Comment from Rheference Online ressource, 2020. — Online ressource — [RHeference]
- Stef M et al. RH genotyping by nonspecific quantitative next-generation sequencing. Transfusion, 2020. [Citation] [RHeference]
Last update: Jan. 8, 2021