RHD*08.01 - RHD*DFV
(ISBT table: RHD partial D v5.0)
This entry is an RHD allele.
D(667), D667, DFV, RHD(F223V), RHD*667G, RHD*667G (DFV, RHD*08.01), RHD*667T>G,
Molecular data
Nucleotides:
667T>G;
Amino acids: F223V;
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:-2, -3, -10, -19, -20, -23, -30, -32, -50,
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: Dec. 28, 2020)ce | Ce | cE | CE | |
---|---|---|---|---|
ce | 0 | 1 | 1 | 0 |
Ce | 3 | 0 | 0 | |
cE | 0 | 0 | ||
CE | 0 |
Reports by CcEe phenotype
Reports by allele association
Alloimmunization
Antibodies in carriers
Antibody specificity: D (RH1)
Summary: probably allo-anti-D (last update: Dec. 28, 2020)Detailed information
-
Flegel WA et al. Transfusion (2008)
- Ab specificity: D (RH1)
- Number (auto- or allo-):
- Number listed as allo-: 0
- Number listed as auto-:
- Number of carriers of the allele assessed:
- DAT: ND
- Autologuous control: ND
- Elution: ND
- Autoadsorption: ND
- Titer: ND
- Was anti-LW excluded?: suspected anti-D in D+ pregnant woman was shown to be anti-LWa
- Other antibodies detected: ND
- Cross matches (with Ab and RBCs from different partial types): ND
- Transfusion history: immunized by transfusion
- Pregnancy history:
- Anti-D Ig history: ND, probably none
- Context: pregnant woman
- Hemolytic consequences: ND
- Comment:
Wagner FF et al. Transfus Med Hemother (2014) (RIR n°100)
von Zabern I et al. Transfusion (2013)
-
Daniels G et al. Br J Haematol (2013)
(review; Table I)
- Ab specificity: D (RH1)
- Number (auto- or allo-):
- Number listed as allo-: no new case detailed (listed as alloanti-D)
- Number listed as auto-: NA
- Number of carriers of the allele assessed: NA
- DAT: NA
- Autologuous control: NA
- Elution: NA
- Autoadsorption: NA
- Titer: NA
- Was anti-LW excluded?: NA
- Other antibodies detected: NA
- Cross matches (with Ab and RBCs from different partial types): NA
- Transfusion history: NA
- Pregnancy history:
- Anti-D Ig history: NA
- Context: NA
- Hemolytic consequences: NA
- Comment: list of D variants associated with alloanti-D formation
Antibodies in D negative recipients
Alloimmunization in recipients: expected to be possible, see phenotype data
Reports
Summary: several descriptions, in various populations (last update: Jan. 11, 2021)Detailed reports
- 1 sample D positive individuals with anti-D Indian descent
- 1 sample Kosovo
- 1/430 (1 heterozygous) among samples with ambigous D phenotype in the French population (Table S1)
- 2/316 (1 homo- or hemizygous, 1 heterozygous with RHef00442) 316 (280 D positive and 36 D negative) donors were genotyped African descent (FY:-1,-2) in the French population
- 1/67 (heterozygous with DAU0) among 405 random donor samples used to evaluate RHD zygosity tests (35 typed D negative, 303 typed D positive, 67 of the latter had discordant results with different methods and were sequenced) in the Tunisian population
- 1/223 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
- 3/129 (hemizygous) donors with weak D phenotype Thai
- 4/353 samples referred for discrepant or weak D typing in the USA population
Allele or phenotype frequency
Structure mapping
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References
- Wagner FF et al. The DAU allele cluster of the RHD gene. Blood, 2002. [Citation] [RHeference]
- Noizat-Pirenne F et al. Rare RHCE phenotypes in black individuals of Afro-Caribbean origin: identification and transfusion safety. Blood, 2002. [Citation] [RHeference]
- Chen Q et al. Random survey for RHD alleles among D+ European persons. Transfusion, 2005. [Citation] [RHeference]
- Grootkerk-Tax MG et al. RHD(T201R, F223V) cluster analysis in five different ethnic groups and serologic characterization of a new Ethiopian variant DARE, the DIII type 6, and the RHD(F223V). Transfusion, 2006. [Citation] [RHeference]
- Flegel WA et al. DCS-1, DCS-2, and DFV share amino acid substitutions at the extracellular RhD protein vestibule. Transfusion, 2008. [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]
- Wagner FF and Flegel WA et al. The Human RhesusBase Online ressource, 2011. — Online ressource — [RHeference]
- von Zabern I et al. D category IV: a group of clinically relevant and phylogenetically diverse partial D. Transfusion, 2013. [Citation] [RHeference]
- Daniels G et al. Variants of RhD--current testing and clinical consequences. Br J Haematol, 2013. [Citation] [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]
- Reid ME et al. The low-prevalence Rh antigen STEM (RH49) is encoded by two different RHCE*ce818T alleles that are often in cis to RHD*DOL. Transfusion, 2013. [Citation] [RHeference]
- Reid ME et al. Genomic analyses of RH alleles to improve transfusion therapy in patients with sickle cell disease. Blood Cells Mol Dis, 2014. [Citation] [RHeference]
- Kappler-Gratias S et al. Systematic RH genotyping and variant identification in French donors of African origin. Blood Transfus, 2014. [Citation] [RHeference]
- Wagner FF et al. The Rhesus Site. Transfus Med Hemother, 2014. [Citation] [RHeference]
- Kacem N et al. Paternal RHD zygosity determination in Tunisians: evaluation of three molecular tests. Blood Transfus, 2015. [Citation] [RHeference]
- Srivastava K et al. The DAU cluster: a comparative analysis of 18 RHD alleles, some forming partial D antigens. 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]
- Floch A et al. Comment from Rheference Online ressource, 2020. — Online ressource — [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]
- 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: Dec. 28, 2020