RHD*Ex10del type 2
(ISBT table: not listed)
This entry is an RHD allele.
RHD*1227-2108_1254+1317del, RHD*Ex10del type 2, RHD*delEx10 type 2, RHDex10del type 2,
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 RHef00567, RHef00617, RHef00660 and RHef00659
- 7640 bp deletion encompassing intron 9, exon 10, and part of 3’ UTR of the RHD gene
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:
Unconventional prediction methods:
Phenotype
Main D phenotype: D negative (DEL excluded) (last update: July 28, 2020)Reports by D phenotype
Other RH phenotypes: RH:-2,
- RH:-2 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: Dec. 9, 2020)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: not expected, see phenotype data
Reports
Summary: exceptional description(s), African (last update: Dec. 22, 2019)Detailed reports
- 1 sample donor with D negative phenotype African, in the German population
- 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)
Allele or phenotype frequency
Structure mapping
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| Slab | Ctrl+Second | Not Available |
References
- 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