RHD*18 - RHD*DFW
(ISBT table: RHD partial D v5.0)
This entry is an RHD allele.
DFW, RHD(H166P), RHD*497A>C, RHD*497C, RHD*497C (DFW, RHD*18),
Molecular data
Nucleotides:
497A>C;
Amino acids: H166P;
Hybrid allele encompassing at least one RHCE exon:
no
Comments on the molecular basis:
Extracellular position of one or more amino acid substitutions:
- mutations in the Rh vestibule
- none of the mutations are predicted to affect an extracellular amino acid
Splicing:
Unconventional prediction methods:
Phenotype
Main D phenotype: variable/discrepant (last update: Dec. 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: Jan. 8, 2021)ce | Ce | cE | CE | |
---|---|---|---|---|
ce | 0 | 6 | 0 | 0 |
Ce | 2 | 1 | 0 | |
cE | 0 | 0 | ||
CE | 0 |
Reports by CcEe phenotype
Reports by allele association
Alloimmunization
Antibodies in carriers
Antibody specificity: D (RH1)
Summary: no published cases (last update: Dec. 28, 2020)Detailed information
Antibodies in D negative recipients
Alloimmunization in recipients: expected to be possible, see phenotype data
Reports
Summary: several descriptions, mainly in individuals of Asian (including the Indian subcontinent) descent, or compatible with such descent (last update: Dec. 28, 2020)Detailed reports
- 1 sample Sri Lankan
- 1/78156 donations, of which 60965 were D positive phenotype. Variant phenotypes were detected by serologic screening and further characterized by molecular analysis. in the German population, southwestern Germany
- 3/351 out of 351 prenatal patients with discrepant D phenotyping results (population tested 608486 patients) Canada
- 2/223 donors with D negative phenotype initially, found to have D antigen expression (67 of the 223 samples of the cohort) or samples referred with discrepant or weak D typing, or discrepancies with previous typings, or anti-D in D positive individuals (156 of the 223 samples of the cohort) in the Indian population
- 7/129 ( 1 homozygous, 5 hemizygous, 1 heterozygous with RHef00122) donors with weak D phenotype Thai
- 3/353 samples referred for discrepant or weak D typing in the USA population
- 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
- Avent ND et al. The rhesus blood group system: insights from recent advances in molecular biology. Transfus Med Rev, 1999. [Citation] [RHeference]
- Flegel WA et al. D variants at the RhD vestibule in the weak D type 4 and Eurasian D clusters. Transfusion, 2009. [Citation] [RHeference]
- von Zabern I et al. D category IV: a group of clinically relevant and phylogenetically diverse partial D. Transfusion, 2013. [Citation] [RHeference]
- Clarke G et al. Resolving variable maternal D typing using serology and genotyping in selected prenatal patients. Transfusion, 2016. [Citation] [RHeference]
- Zhao H et al. A serologic weakly reactive RhD is caused by a c.496C>G (p.His166Asp) in RHD gene. Transfusion, 2016. [Citation] [RHeference]
- S Vege et al. RHD Genotyping of Discrepant or Weak D Samples: Over a Year’s Experience. Transfusion, 2017. — Abstract — [RHeference]
- Fichou Y et al. Molecular basis of weak D expression in the Indian population and report of a novel, predominant variant RHD allele. Transfusion, 2018. [Citation] [RHeference]
- Thongbut J et al. Comprehensive Molecular Analysis of Serologically D-Negative and Weak/Partial D Phenotype in Thai Blood Donors. Transfus Med Hemother, 2020. [Citation] [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]
- Vege S et al. Impact of RHD genotyping on transfusion practice in Denmark and the United States and identification of novel RHD alleles. Transfusion, 2021. [Citation] [RHeference]
Last update: Jan. 8, 2021