RHD*01EL.08 - RHD*DEL8
(ISBT table: Weak D and Del v5.0)
This entry is an RHD allele.
RHD(IVS3+1G>A), RHD*486+1A, RHD*486+1A (IVS3+1A, DEL8), RHD*486+1G>A,
Molecular data
Nucleotides:
intronic 486G>A;
Amino acids: 0;
Hybrid allele encompassing at least one RHCE exon:
no
Comments on the molecular basis:
- sometimes additional IVS5-38del4 with R1r phenotype
- same samples as in
22313164 ; digital PCR for non invasive fetal genotyping - NGS
Extracellular position of one or more amino acid substitutions:
- Silent or intronic mutations: none of the mutations are predicted to affect an extracellular amino acid.
Splicing:
Unconventional prediction methods:
Phenotype
Main D phenotype: DEL (last update: Aug. 9, 2020)Reports by D phenotype
Other RH phenotypes: RH:-2, -3, -4, -5,
Serology with monoclonal anti-D
- 21 anti-D tested, results not detailed
- some anti-D tested, results not detailed; "Besides the investigation of D and RHD, we also examined all RBCs with anti-CD47, anti-CD241, and anti-LW by flow cytometry and found no significant differences in expression level compared to control RBCs (data not shown)"
- epitope pattern by adsorption-elution only Dia-Clon (clones MS26 and TH28) but not Seraclone (clones BS221, H41 11B7, and BS232) anti-D could be eluted, indicating that this DEL type may be partial in nature.
- negative reactions, with a panel of 10 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 | 47 | 1 | 0 |
Ce | 17 | 0 | 0 | |
cE | 1 | 0 | ||
CE | 0 |
Reports by CcEe phenotype
- with Ccee 7 samples (study may overlap with
- with cE 1 sample
- with ccEe 1 sample
- with Ce 1 sample (study may overlap with
2 samples
1 sample (considering RHCE genotyping, RHD zygosity and RHD allele, R1 was considered the most likely haplotype)
3 samples
6 samples
5 samples
23 samples
16 samples (16 samples, haplotype given, not patient phenotypes)
Reports by allele association
Alloimmunization
Antibodies in carriers
Antibody specificity: D (RH1)
Summary: allo-anti-D (last update: Aug. 9, 2020)Detailed information
-
St-Louis R et al. Vox Sanguinis (2012)
- Ab specificity: D (RH1)
- Number (auto- or allo-):
- Number listed as allo-:
- Number listed as auto-:
- Number of carriers of the allele assessed:
- DAT:
- Autologuous control:
- Elution:
- Autoadsorption:
- Titer:
- Was anti-LW excluded?:
- Other antibodies detected:
- Cross matches (with Ab and RBCs from different partial types):
- Transfusion history:
- Pregnancy history:
- Anti-D Ig history:
- Context:
- Hemolytic consequences:
- Comment:
-
Gardener GJ et al. Transfusion (2012)
- Ab specificity: D (RH1)
- Number (auto- or allo-): 1
- Number listed as allo-:
- Number listed as auto-:
- Number of carriers of the allele assessed:
- DAT:
- Autologuous control:
- Elution:
- Autoadsorption: not autoadsorbable
- Titer:
- Was anti-LW excluded?:
- Other antibodies detected:
- Cross matches (with Ab and RBCs from different partial types):
- Transfusion history:
- Pregnancy history:
- Anti-D Ig history:
- Context: obstetrics patient
- Hemolytic consequences: HDN: newborn required phototherapy for mild hemolytic disease and anti-D was eluted from cord RBCs
- Comment:
Tsui NB et al. Prenat Diagn (2013) (same samples as in
-
Gardener GJ et al. Transfusion (2012)
- Ab specificity: D (RH1)
- Number (auto- or allo-): 1
- Number listed as allo-:
- Number listed as auto-:
- Number of carriers of the allele assessed:
- DAT:
- Autologuous control:
- Elution:
- Autoadsorption:
- Titer:
- Was anti-LW excluded?:
- Other antibodies detected:
- Cross matches (with Ab and RBCs from different partial types):
- Transfusion history:
- Pregnancy history:
- Anti-D Ig history:
- Context: obstetrics patient
- Hemolytic consequences:
- Comment: newborn was compatible and unaffected
Tsui NB et al. Prenat Diagn (2013) (same samples as in
-
Körmöczi GF et al. Transfusion (2005)
- Ab specificity: D (RH1)
- Number (auto- or allo-): 1
- Number listed as allo-:
- Number listed as auto-:
- Number of carriers of the allele assessed:
- DAT: negative
- Autologuous control:
- Elution:
- Autoadsorption: not autoadsorbable
- Titer: 32 (against ccDDEE RBCs in tube technique IAT)
- Was anti-LW excluded?: ruled out
- Other antibodies detected:
- Cross matches (with Ab and RBCs from different partial types):
- Transfusion history: none
- Pregnancy history:
- Anti-D Ig history:
- Context:
- Hemolytic consequences:
- Comment:
-
Körmöczi GF et al. Transfusion (2005)
- Ab specificity: D (RH1)
- Number (auto- or allo-): 1
- Number listed as allo-:
- Number listed as auto-:
- Number of carriers of the allele assessed:
- DAT: negative
- Autologuous control:
- Elution:
- Autoadsorption: not autoadsorbable
- Titer: 4 (against ccDDEE RBCs in tube technique IAT)
- Was anti-LW excluded?: ruled out
- Other antibodies detected:
- Cross matches (with Ab and RBCs from different partial types):
- Transfusion history: numerous untyped RBC units
- Pregnancy history:
- Anti-D Ig history:
- Context:
- Hemolytic consequences:
- Comment:
Antibodies in D negative recipients
Alloimmunization in recipients: expected to be possible, see phenotype data
Reports
Summary: common allele, mainly in individuals of Central European (Caucasian) descent or compatible with such descent (last update: Jan. 6, 2021)Detailed reports
- 3/8442 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)
- 1/738 samples with D negative, but C and/or E positive phenotype, screened for RHD specific sequences (in the 5'UTR region, exon 3 and exon 10) in the Austrian (state of Tyrol) population
- 2/104 samples with D negative, but C and/or E positive phenotype, screened for RHD specific sequences (in the 5'UTR region, exon 3 and exon 10) in the Swiss (Bern and the canton of Bern) population
- 0/400 samples with D negative, but C and/or E positive phenotype, screened for RHD specific sequences (in the 5'UTR region, exon 3 and exon 10) in the German (states of Lower Saxony, Saxony- Anhalt, Thuringia, Oldenburg, and Bremen) population
- 0/71 samples with D negative, but C and/or E positive phenotype, screened for RHD specific sequences (in the 5'UTR region, exon 3 and exon 10) in the Russian (Kirov Oblast) population
- 3/333 samples with D negative, but C and/or E positive phenotype, screened for RHD specific sequences (in the 5'UTR region, exon 3 and exon 10) in the Slovenian population
- 0/54 samples with D negative, but C and/or E positive phenotype, screened for RHD specific sequences (in the 5'UTR region, exon 3 and exon 10) in the German (city of Braunschweig and eastern parts of Lower Saxony) population
- 1 sample German Caucasian
- 2/2427 among 3 first-time donors with D negative phenotype, but with amplification of RHD exons 4, 7, and 10 whithin 44,743 donors tested in the Austrian population, Upper Austria
- 7 samples reported by a German lab
- 24/23330 donor samples with D negative phenotype, tested for RHD exons 4, 7 and 10 (94 were PCR positive, 74 weak D or DEL in subsequent serologic analysis) in the Austrian population, Upper Austria
- 16/96 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
- 2/7 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
- 1/25 donors with "weak D or questionnable D status" explored by NGS to compare with Sanger sequencing in the Austrian population, Upper Austria
- 1/4932 among donors with D negative phenotype, tested for RHD exons Danish (Copenhagen area)
- 4/163 selected variants included for the development of a genotyping assay mainly in the Dutch population (samples may have been included in other studies)
- 2/430 among samples with ambigous D phenotype in the French population (Table S1)
- 1/31200 consecutive donors with D negative phenotype, tested for presence of RHD intron 4, exon 7 and/or exon 10 in the Polish population
-
8/26243 donors with D negative phenotype in three studies with different inclusion criteria in the Swiss population (Zurich and Berne)
(study may overlap with
24679597 ) -
7/25370 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 ) - 6/2027 2027 donors with D positive phenotype, C and/or E positive, screened for RHD exons 4, 5 and 10 and for DEL phenotype in the Australian population
- 1/3526 donors with D negative phenotype Japanese
- 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
- 1/1174 donors with D negative phenotype United States population (Los Angeles)
- 1/526 among donors with D negative phenotype, C and/or E positive, tested for presence of the RHD gene in the Argentinean population (Northwestern Argentina)
- 4/185 RH:–1,–4 or RH:–1,–5 recipients reported by a French lab
- 1/310 donors with D negative phenotype, C and/or E positive in the Italian population
- 3/274 donor with D negative phenotype Spanish
- 41/136000 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)
-
18/46,756 first time donors 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 ) - 1/16,253 samples of pregnant women with D negative of weak D (2+ or less), screened for fetal RHD in the Finnish population
- 2 hemizygotes 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
- 1/15152 (CI: 1/5610 - 1/55568) 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)
- allele not observed, lowest estimate: 1/4399 estimated allele frequency in samples with D negative phenotype but C and/or E positive, screened for RHD specific sequences (in the 5'UTR region, exon 3 and exon 10) in the German (states of Lower Saxony, Saxony- Anhalt, Thuringia, Oldenburg, and Bremen) population
- 1/2547 (CI: 1/943 - 1/9341) estimated allele frequency in samples with D negative phenotype but C and/or E positive, screened for RHD specific sequences (in the 5'UTR region, exon 3 and exon 10) in the Slovenian population
- 1/18550 (CI: 1/3485 - 1/363667) estimated allele frequency in samples with D negative phenotype but C and/or E positive, screened for RHD specific sequences (in the 5'UTR region, exon 3 and exon 10) in the Austrian (state of Tyrol) population
- 1/972 (CI: 1/691 - 1/1410) estimated allele frequency in individuals with D negative phenotype in the Austrian population, Upper Austria
- 1/10400 (CI: 1/4024 - 1/38156) estimated allele frequency in individuals with D negative phenotype in the Polish population
- 0.006 calculated in 16,253 samples of pregnant women with D negative of weak D (2+ or less), screened for fetal RHD in the Finnish population
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]
- Wagner FF et al. RHD positive haplotypes in D negative Europeans. BMC Genet, 2001. [Citation] [RHeference]
- Gassner C et al. Presence of RHD in serologically D-, C/E+ individuals: a European multicenter study. Transfusion, 2005. [Citation] [RHeference]
- Körmöczi GF et al. A comprehensive analysis of DEL types: partial DEL individuals are prone to anti-D alloimmunization. Transfusion, 2005. [Citation] [RHeference]
- R. A. Laycock et al. A Case of a DEL Woman Being Immunised to Produce Anti-D which Caused Severe HDFN Transfusion Medicine, 2005. — Abstract — [RHeference]
- Flegel WA et al. How I manage donors and patients with a weak D phenotype. Curr Opin Hematol, 2006. [Citation] [RHeference]
- Nogues N et al. RHD null alleles in the Spanish population Vox Sanguinis, 2007. — Abstract — [RHeference]
- Polin H et al. Effective molecular RHD typing strategy for blood donations. Transfusion, 2007. [Citation] [RHeference]
- von Zabern I et al. IVS5-38del4 deletion in the RHD gene does not cause a DEL phenotype: relevance for RHD alleles including DFR-3. Transfusion, 2007. [Citation] [RHeference]
- Polin H et al. Identification of RHD alleles with the potential of anti-D immunization among seemingly D- blood donors in Upper Austria. Transfusion, 2009. [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]
- Krog GR et al. Is current serologic RhD typing of blood donors sufficient for avoiding immunization of recipients? Transfusion, 2011. [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]
- St-Louis R et al. DEL Blood donors alloimmunised patients: the Canadian experience Vox Sanguinis, 2012. — Abstract — [RHeference]
- Gardener GJ et al. Anti-D in pregnant women with the RHD(IVS3+1G>A)-associated DEL phenotype. Transfusion, 2012. [Citation] [RHeference]
- Haer-Wigman L et al. RHD and RHCE variant and zygosity genotyping via multiplex ligation-dependent probe amplification. Transfusion, 2013. [Citation] [RHeference]
- Tsui NB et al. Noninvasive fetal RHD genotyping by microfluidics digital PCR using maternal plasma from two alloimmunized women with the variant RHD(IVS3+1G>A) allele. Prenat Diagn, 2013. [Citation] [RHeference]
- Orzińska A et al. RHD variants in Polish blood donors routinely typed as D-. Transfusion, 2013. [Citation] [RHeference]
- Fichou Y et al. Establishment of a medium-throughput approach for the genotyping of RHD variants and report of nine novel rare alleles. Transfusion, 2013. [Citation] [RHeference]
- Daniels G et al. Variants of RhD--current testing and clinical consequences. Br J Haematol, 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]
- 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]
- Crottet SL et al. Implementation of a mandatory donor RHD screening in Switzerland. Transfus Apher Sci, 2014. [Citation] [RHeference]
- Ogasawara K et al. Molecular basis for D- Japanese: identification of novel DEL and D- alleles. Vox Sang, 2015. [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]
- Perez-Alvarez I et al. RHD genotyping of serologic RhD-negative blood donors in a hospital-based blood donor center. Transfusion, 2019. [Citation] [RHeference]
- Trucco Boggione C et al. Characterization of RHD locus polymorphism in D negative and D variant donors from Northwestern Argentina. Transfusion, 2019. [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]
- Floch A et al. Comment from Rheference Online ressource, 2020. — Online ressource — [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]
- Stef M et al. RH genotyping by nonspecific quantitative next-generation sequencing. Transfusion, 2020. [Citation] [RHeference]
Last update: Jan. 8, 2021