RHD*D-CE(8-9)-D
(ISBT table: not listed)
This entry is an hybrid RHD allele.
RHD(L390L,E398V), RHD*1170C,1193T, RHD*D-CE(8-9)-D, RHD-RHCE(8-9)-RHD, RHDnex,
Molecular data
Nucleotides:
1170T>C; 1193A>T;
Hybrid allele encompassing at least one RHCE exon:
RHD-RHCE(8-9)-RHD
Comments on the molecular basis:
- "These possible hybrid alleles could also be caused by partial deletions"
- PCR-SSP pattern "indicating the abence of RHD-sepcific adenine 1193", sample characterized in
11495631 - see also "Additional comments" section on the RhesusBase http://www.rhesusbase.info/RHDRHD-RHCE(8-9)-RHD.htm
- hybrid structure was deduced from the PCR pattern
Extracellular position of one or more amino acid substitutions:
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:-3, -4,
Serology with monoclonal anti-D
Antigen Density (Ag/RBC)
More phenotype data
Rhesus Similarity Index
Haplotype
Main CcEe phenotype association: Ce (last update: Nov. 11, 2019)ce | Ce | cE | CE | |
---|---|---|---|---|
ce | 0 | 3 | 0 | 0 |
Ce | 18 | 1 | 0 | |
cE | 0 | 0 | ||
CE | 0 |
Reports by CcEe phenotype
Reports by allele association
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: several descriptions, in German and Austrian (last update: Dec. 22, 2019)Detailed reports
- 3/8442 (related individuals) 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 White, in the German population (Baden-Wurttemberg)
- 1/23330 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
- 17/96 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 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
- 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)
- 1/23330 (CI: 1/4926 - 1/500000) estimated allele frequency in individuals with D negative phenotype in the Austrian population, Upper Austria
Structure mapping
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References
- Gassner C et al. RHD/CE typing by polymerase chain reaction using sequence-specific primers. Transfusion, 1997. [Citation] [RHeference]
- Wagner FF et al. RHD positive haplotypes in D negative Europeans. BMC Genet, 2001. [Citation] [RHeference]
- Flegel WA et al. How I manage donors and patients with a weak D phenotype. Curr Opin Hematol, 2006. [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]
- Wagner FF and Flegel WA et al. The Human RhesusBase Online ressource, 2011. — Online ressource — [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