RHD*Ex10del type 1
(ISBT table: not listed)
This entry is an RHD allele.
RHD IVS9-4064del5406, RHD delEx10.5.4kb, RHD*1227+2874_1254+1317del ##### RHD*1228–4061_1254+1317del5405, RHD*Ex10del type 1, RHD*delEx10 type 1, RHDex10del type 1,
Molecular data
Nucleotides:
exon deletion(s);
Amino acids: exon deletion(s) del(Ex10);
Hybrid allele encompassing at least one RHCE exon:
RHD(1-9)-del(Ex10)
Comments on the molecular basis:
- see RHef00617, RHef00524, RHef00660 and RHef00659
- RHD Exon 9 sequence is followed by a sequence tract of RHD Intron 9 (termed pseudo-Exon 10) due to the activation of a cryptic splice acceptor site
- 5405 bp deletion encompassing 4061 nucleotides of intron 9, all 27 nucleotides of the exon 10 and 1317 nucleotides of 3′ UTR
- see also "Additional comments" section on the RhesusBase http://www.rhesusbase.info/RHDRHD(delEx10).htm
Extracellular position of one or more amino acid substitutions:
- None of the mutations are predicted to affect an extracellular amino acid. However, the effect of the deletion of Exon 10 on the RhD protein structure is unknown.
Splicing:
- additive effect of three distinct mechanisms that affect mRNA formation, mRNA stability, and RhD/ankyrin-R interaction, cryptic splice acceptor site
Unconventional prediction methods:
Phenotype
Main D phenotype: DEL (last update: Nov. 17, 2019)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: June 20, 2020)Alloimmunization
Antibodies in carriers
Antibody specificity: D (RH1)
Summary: no published cases (last update: Aug. 9, 2020)Detailed information
-
Fichou Y et al. Transfusion (2012)
- Ab specificity: D (RH1)
- Number (auto- or allo-): 0
- Number listed as allo-:
- Number listed as auto-:
- Number of carriers of the allele assessed: 61
- 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:
Antibodies in D negative recipients
Alloimmunization in recipients: expected to be possible, see phenotype data
Reports
Summary: frequent descriptions, in individuals of Caucasian (Western Europe) descent, or compatible with such descent (last update: Dec. 22, 2019)Detailed reports
- 61/2000 "approximately 2000 hemizigous subjects with D phenotype ambiguity" Caucasian, reported by a French lab from Brest, Brittany
- 6/430 (1 heterozygous) among samples with ambigous D phenotype in the French population (Table S1)
- 1 sample (htz with RHef00238) reported by a French lab from Brest, Brittany
-
3/26243 donors with D negative phenotype in three studies with different inclusion criteria in the Swiss population (Zurich and Berne)
(study may overlap with
24679597 ) -
2/25370 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 sample donors with D negative phenotype Caucasian, in the USA population
- 1 sample donor with D negative phenotype Caucasian (in the USA)
- 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)
Allele or phenotype frequency
Structure mapping
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References
- Wagner FF and Flegel WA et al. The Human RhesusBase Online ressource, 2011. — Online ressource — [RHeference]
- Fichou Y et al. Weak D caused by a founder deletion in the RHD gene. Transfusion, 2012. [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]
- Fichou Y et al. A convenient qualitative and quantitative method to investigate RHD-RHCE hybrid genes. 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]
- Srivastava K et al. Two large deletions extending beyond either end of the RHD gene and their red cell phenotypes. J Hum Genet, 2018. [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]
Last update: Dec. 22, 2019