RHD*05.02 - RHD*DV.2
(ISBT table: RHD partial D v5.0)
This entry is an hybrid RHD allele.
DV (Hus), DV type 2, DV type 2 (Hus), DV type II (Hus), DVa(HUS), Hus, RHD(F223V,E233Q,V238M,V245L,G263R,K267M), RHD(F223V,E233Q,V238M,V245L,S248S,G263R,K267M), RHD*667G,697C,712A,733C,744T,787A,800T, RHD*667T>G,697G>C,712G>A,733G>C,744C>T,787G>A,800A>T, RHD*D-CE(5)-D, RHD*D-CE(5)-D (DV type 2, Hus), RHD-RHCE(5)-RHD,
Molecular data
Nucleotides:
667T>G; 697G>C; 712G>A; 733G>C; 744C>T; 787G>A; 800A>T;
Amino acids: F223V; E233Q; V238M; V245L; S248S; G263R; K267M;
Hybrid allele encompassing at least one RHCE exon:
RHD-RHCE(5)-RHD
Comments on the molecular basis:
- breakpoints description "whole exon 5 and complete intron 5 of a total segment of 1801 nucleotides were replaced by RHCE suggesting that the breakpoints of the replaced region are the 5’ end of the exon 5 and the 3’ end of the intron 5"
Extracellular position of one or more amino acid substitutions:
Splicing:
Unconventional prediction methods:
Phenotype
Main D phenotype: variable/discrepant (last update: April 28, 2020)Reports by D phenotype
Other RH phenotypes: RH:-2, -3, -4, -5, 23, -30, -50, -52,
- RH:-2 inferred from the reported RHCE phenotypes of the carriers
- RH:-3 inferred from the reported RHCE phenotypes of the carriers
- RH:-4 inferred from the reported RHCE phenotypes of the carriers
- RH:-5 inferred from the reported RHCE phenotypes of the carriers
- RH:23 no new sample sample DVa (Hus.) sample Dva (Hus.) Table 2
- RH:-30 sample DVa (Hus.)
- RH:-50 sample DVa (Hus.)
- RH:-52
Serology with monoclonal anti-D
Antigen Density (Ag/RBC)
More phenotype data
Rhesus Similarity Index
Haplotype
Main CcEe phenotype association: several haplotypes reported (last update: Dec. 9, 2020)ce | Ce | cE | CE | |
---|---|---|---|---|
ce | 1 | 1 | 4 | 0 |
Ce | 3 | 0 | 0 | |
cE | 1 | 0 | ||
CE | 1 |
Reports by CcEe phenotype
- with ce 1 sample (haplotype listed, not complete phenotype)
- with Ccee 1 sample (1 sample?)
- with Ce 2 samples (family study)
- with ccEe 1 sample
- with cE 1 sample (haplotype listed, not complete phenotype)
- with CE 1 sample (haplotype given, not complete phenotype; not all samples could be counted)
1 sample (haplotype given, not complete phenotype; not all samples could be counted)
0 samples (Table 2; no sample count, presented as a general association)
3 samples
0 samples (Table 2; no sample count, presented as a general association)
Reports by allele association
Alloimmunization
Antibodies in carriers
Antibody specificity: D (RH1)
Summary: allo-anti-D (last update: Nov. 17, 2019)Detailed information
-
von Zabern I et al. Transfusion (2013)
- Ab specificity: D (RH1)
- Number (auto- or allo-):
- Number listed as allo-: 1
- 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?: yes
- Other antibodies detected: ND
- Cross matches (with Ab and RBCs from different partial types): ND
- Transfusion history: ND
- Pregnancy history:
- Anti-D Ig history: ND, probably none
- Context: ND
- Hemolytic consequences: ND
- Comment:
Wagner FF et al. Transfus Med Hemother (2014) (RIR n°13)
Antibodies in D negative recipients
Alloimmunization in recipients: expected to be possible, see phenotype data
Reports
Summary: several descriptions, mainly in individuals of Eastern Asian descent, or compatible with such descent (last update: June 16, 2020)Detailed reports
- 1 sample donor in the French population (sample DVa (Hus.))
- 2 samples related individuals Japanese
- 1 sample Chinese
- 1/32 weak D or discordant between tube and IAT whithin a population of 305572 Chinese Han and minority donors Chinese Han
- 1/45 (prevalence among weak D) or 1/12672 (phenotypic prevalence in population) 45 patients with weak D phenotype were genotyped in a cohort of 12672 patients from a public hospital Argentinean
- 0/43 (prevalence among weak D phenotype) or 0/5707 (phenotypic prevalence in population) 43 patients with weak D phenotype were genotyped in a cohort of 5707 patients from a private laboratory Argentinean
- 4/2493 donors with apparent D negative phenotype (108/2493 were in fact weak D or DEL) Han Chinese (Shanxi Province, Central China)
- 1/360 donors with atypical D phenotype (discrepancies or reactivity weaker than 3+) Brazilian
- 1/64 among 175000 donors, 64 had weak D phenotype and underwent molecular identification in the Greek population
- 3/45 among 132479 donors screened, 45 had weak D phenotype in the northeastern Chinese Liaoning Province 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
Movement | Mouse Input | Touch Input | ||
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Translation | Middle Mouse Button or Ctrl+Primary | Triple touch | ||
Zoom | Scroll Wheel or Second Mouse Button or Shift+Primary | Pinch (double touch) | ||
Slab | Ctrl+Second | Not Available |
References
- International Society of Blood Transfusion et al. International Society of Blood Transfusion (ISBT) allele table Online ressource, 1935. — Online ressource — [RHeference]
- Rouillac C et al. Transcript analysis of D category phenotypes predicts hybrid Rh D-CE-D proteins associated with alteration of D epitopes. Blood, 1995. [Citation] [RHeference]
- Avent ND et al. The rhesus blood group system: insights from recent advances in molecular biology. Transfus Med Rev, 1999. [Citation] [RHeference]
- Hyodo H et al. Polymorphisms of RhD(Va) and a new RhD(Va)-like variant found in Japanese individuals. Vox Sang, 2000. [Citation] [RHeference]
- Legler TJ et al. D(Va) category phenotype and genotype in Japanese families. Vox Sang, 2000. [Citation] [RHeference]
- Wagner FF et al. A D(V)-like phenotype is obliterated by A226P in the partial D DBS. Transfusion, 2001. [Citation] [RHeference]
- Noizat-Pirenne F et al. DAL: a new partial RHD phenotype. Transfusion, 2001. [Citation] [RHeference]
- Omi T et al. Isolation, characterization, and family study of DTI, a novel partial D phenotype affecting the fourth external loop of D polypeptides. Transfusion, 2002. [Citation] [RHeference]
- Shao C et al. Whole exon 5 and intron 5 replaced by RHCE in DVa(Hus). J Hum Genet, 2004. [Citation] [RHeference]
- Flegel WA et al. In-frame triplet deletions in RHD alter the D antigen phenotype. Transfusion, 2006. [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]
- Yan L et al. Molecular basis of D variants in Chinese persons. Transfusion, 2007. [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]
- Wagner FF and Flegel WA et al. The Human RhesusBase Online ressource, 2011. — Online ressource — [RHeference]
- Brajovich ME et al. Comprehensive analysis of RHD alleles in Argentineans with variant D phenotypes. Transfusion, 2012. [Citation] [RHeference]
- Daniels G et al. Variants of RhD--current testing and clinical consequences. Br J Haematol, 2013. [Citation] [RHeference]
- Fichou Y et al. A convenient qualitative and quantitative method to investigate RHD-RHCE hybrid genes. Transfusion, 2013. [Citation] [RHeference]
- von Zabern I et al. D category IV: a group of clinically relevant and phylogenetically diverse partial D. Transfusion, 2013. [Citation] [RHeference]
- Wagner FF et al. The Rhesus Site. Transfus Med Hemother, 2014. [Citation] [RHeference]
- Ye SH et al. A comprehensive investigation of RHD polymorphisms in the Chinese Han population in Xi'an. Blood Transfus, 2014. [Citation] [RHeference]
- Arnoni CP et al. How do we identify RHD variants using a practical molecular approach? Transfusion, 2014. [Citation] [RHeference]
- Zhang X et al. Molecular and computational analysis of 45 samples with a serologic weak D phenotype detected among 132,479 blood donors in northeast China. J Transl Med, 2019. [Citation] [RHeference]
- Koutsouri T et al. Frequency distribution of RHD alleles among Greek donors with weak D phenotypes demonstrates a distinct pattern in central European countries. Transfus Med, 2019. [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]
Last update: Jan. 8, 2021