RHD*01EL.09 - RHD*DEL9
(ISBT table: Weak D and Del v5.0)
This entry is an RHD allele.
RHD(IVS3+2T>A), RHD*486+2A, RHD*486+2A (IVS3+2A, DEL9), RHD*486+2T>A,
Molecular data
Nucleotides:
intronic 486T>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:
Unconventional prediction methods:
Phenotype
Main D phenotype: DEL (last update: April 29, 2020)Reports by D phenotype
Other RH phenotypes: RH:-2, -3,
Serology with monoclonal anti-D
Antigen Density (Ag/RBC)
More phenotype data
Rhesus Similarity Index
Haplotype
Main CcEe phenotype association: cE, but the association is not systematic (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: few descriptions, compatible with North-Western European Caucasian descent (last update: April 29, 2020)Detailed reports
- 3/96 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
- 1/11 pregnant women with ambiguous fetal genotyping in French population
- 4/2027 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
- 1/1174 donors with D negative phenotype United States population (Los Angeles)
- 15/136000 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)
-
5/46,756 first time 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 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]
- 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]
- Silvy M et al. Weak D and DEL alleles detected by routine SNaPshot genotyping: identification of four novel RHD alleles. Transfusion, 2011. [Citation] [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]
- 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]
- 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]
- Perez-Alvarez I et al. RHD genotyping of serologic RhD-negative blood donors in a hospital-based blood donor center. 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]
- Stef M et al. RH genotyping by nonspecific quantitative next-generation sequencing. Transfusion, 2020. [Citation] [RHeference]
Last update: Jan. 8, 2021