RHD*01N.68
(ISBT table: RHD negative v4.0)
This entry is an RHD allele.
RHD(S112I), RHD*335G>T, RHD*335T, RHD*335T (01N.68),
Molecular data
Nucleotides:
335G>T;
Amino acids: S112I;
Hybrid allele encompassing at least one RHCE exon:
no
Comments on the molecular basis:
Extracellular position of one or more amino acid substitutions:
Splicing:
- splicing reporter minigene assay shows altered splicing, with persitence of 10% normal mRNA
- effect on splicing assumed
- splice site change
- splice site mutation
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, -3,
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: D negative, at risk for anti-D (last update: Aug. 25, 2020)Detailed information
-
Fichou Y et al. Transfusion (2013)
- Ab specificity: D (RH1)
- Number (auto- or allo-): 1
- Number listed as allo-:
- Number listed as auto-:
- Number of carriers of the allele assessed:
- 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: not expected, see phenotype data
Reports
Summary: exceptional description(s), possible North-West European descent (last update: April 28, 2020)Detailed reports
- 1/430 among samples with ambigous D phenotype in the French population Caucasian (in the French population) (Table S1)
- 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
- 1/1403 1043 donors with D negative phenotype among 10417 random donors, were screened for RHD gene in the Brazilian population (Sao Paolo)
- 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]
- 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]
- 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]
- de Paula Vendrame TA et al. Characterization of RHD alleles present in serologically RHD-negative donors determined by a sensitive microplate technique. Vox Sang, 2019. [Citation] [RHeference]
- Stef M et al. RH genotyping by nonspecific quantitative next-generation sequencing. Transfusion, 2020. [Citation] [RHeference]
- Floch A et al. Comment from Rheference Online ressource, 2020. — Online ressource — [RHeference]
Last update: Jan. 8, 2021