RHD*01N.50
(ISBT table: RHD negative v4.0)
RHD*01EL.18 - RHD*DEL18
(ISBT table: weak D and Del v5.0)
This entry is an RHD allele.
RHD*93-94insT, RHD*93_94insT, RHD*93dupT, RHD*93insT, RHD*93insT (RHD*01N.50, DEL18), RHD*94insT,
Molecular data
Nucleotides:
93dupT;
Amino acids: T32Wfs*4;
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: Aug. 9, 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 | 14 | 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: no published cases (last update: Aug. 9, 2020)Detailed information
Antibodies in D negative recipients
Alloimmunization in recipients: expected to be possible, see phenotype data
Reports
Summary: frequent descriptions, mainly in predominantly Caucasian populations (last update: Aug. 9, 2020)Detailed reports
- 2/1113 pregnant women with D negative phenotype, tested for fetal non invasive genotyping, RHD exons 5 and 7 in the German population
- 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
-
1/25370 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 ) - 4/2027 2027 donors with D negative phenotype, C and/or E positive, screened for RHD exons 4, 5 and 10 and for DEL phenotype in the Australian population
- 6/37782 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
- 1/185 RH:–1,–4 or RH:–1,–5 recipients reported by a French lab
- 22/136000 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)
- 3/274 donor with D negative phenotype Spanish
-
9/46,756 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
999999988 ; some samples may overlap with19243542 ) (overlaps with999999913 ; some samples may overlap with full publications) - 7/4000 D negative repeat donors genotyped for RHD, of which 13 had an RHD allele in Canadian (Quebec) population
- 2 hemizygotes, listed as RHD*DEL18 and RHD*01N.50, respectively 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
Movement | Mouse Input | Touch Input | ||
---|---|---|---|---|
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]
- Nogues N et al. RHD null alleles in the Spanish population Vox Sanguinis, 2007. — Abstract — [RHeference]
- Müller SP et al. The determination of the fetal D status from maternal plasma for decision making on Rh prophylaxis is feasible. Transfusion, 2008. [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]
- Christiansen M et al. RHD positive among C/E+ and D- blood donors in Denmark. Transfusion, 2010. [Citation] [RHeference]
- St-Louis R et al. DEL Blood donors alloimmunised patients: the Canadian experience Vox Sanguinis, 2012. — Abstract — [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]
- Chen JM et al. Small deletions within the RHD coding sequence: a report of two novel mutational events and a survey of the underlying pathophysiologic mechanisms. Transfusion, 2013. [Citation] [RHeference]
- Crottet SL et al. Implementation of a mandatory donor RHD screening in Switzerland. Transfus Apher Sci, 2014. [Citation] [RHeference]
- Scott SA et al. The RHD(1227G>A) DEL-associated allele is the most prevalent DEL allele in Australian D- blood donors with C+ and/or E+ phenotypes. Transfusion, 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]
- Lopez GH et al. Genotyping by sequencing defines independent novel RHD variants for an antenatal patient and a blood donor. Transfusion, 2017. [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]
- 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]
- 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