RHD*01EL.05 - RHD*DEL5
(ISBT table: Weak D and Del v5.0)
This entry is an RHD allele.
RHD(IVS1+1G>A), RHD*148+1A, RHD*148+1A (IVS1+1A, DEL5), RHD*148+1G>A,
Molecular data
Nucleotides:
intronic 148G>A;
Amino acids: 0;
Hybrid allele encompassing at least one RHCE exon:
no
Comments on the molecular basis:
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:
- Splice site mutation
- donor splice site; "it is likely that exon 1 would be spliced-out of the mRNA (...) so no RhD protein should be produced. The weak D activity probably results, therefore, from a small degree of normal splicing, despite the mutation."
Unconventional prediction methods:
Phenotype
Main D phenotype: DEL (last update: July 29, 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: Jan. 8, 2021)Alloimmunization
Antibodies in carriers
Antibody specificity: D (RH1)
Summary: no published cases (last update: Nov. 17, 2019)Detailed information
Antibodies in D negative recipients
Alloimmunization in recipients: expected to be possible, see phenotype data
Reports
Summary: rare descriptions, in predominantly European populations and in a Japanese individual (last update: April 29, 2020)Detailed reports
- 2/2027 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
- 1/37782 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 sample donors with apparent D negative phenotype Japanese
- 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)
- 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]
- Singleton BK. Green CA et al. Two new RHD mutations associated with the DEL phenotype Transfusion Clinique et Biologique, 2001. — Abstract — [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]
- 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