RHD*06.02 - RHD*DVI.2
(ISBT table: RHD partial D v5.0)
This entry is an hybrid RHD allele.
DVI type 2, DVI-2, DVI.II, RHD*D-CE(4-6)-D, RHD*D-CE(4-6)-D (DVI type 2), RHD-RHCE(4-6)-RHD,
Molecular data
Nucleotides:
505A>C; 509T>G; 514A>T; 544T>A; 577G>A; 594A>T; 602C>G; 667T>G; 697G>C; 712G>A; 733G>C; 744C>T; 787G>A; 800A>T; 916G>A; 932A>G;
Amino acids: M169L; M170R; I172F; S182T; E193K; K198N; T201R; F223V; E233Q; V238M; V245L; S248S; G263R; K267M; V306I; Y311C;
Hybrid allele encompassing at least one RHCE exon:
RHD-RHCE(4-6)-RHD
Comments on the molecular basis:
- recombination breakpoint characterization: IVS3-288 to IVS4+654
- zygosity determination by MPLA and RHbox detection
- PCR pattern, exons 3, 4, 5, 6, 7 and 9
Extracellular position of one or more amino acid substitutions:
Splicing:
Unconventional prediction methods:
Phenotype
Main D phenotype: variable/discrepant (last update: Dec. 28, 2020)Reports by D phenotype
Other RH phenotypes: RH:-3, -23, -30, -50, 52,
Serology with monoclonal anti-D
Antigen Density (Ag/RBC)
More phenotype data
Haplotype
Main CcEe phenotype association: Ce (last update: Jan. 8, 2021)ce | Ce | cE | CE | |
---|---|---|---|---|
ce | 0 | 10 | 0 | 0 |
Ce | 9 | 1 | 0 | |
cE | 0 | 0 | ||
CE | 0 |
Reports by CcEe phenotype
Reports by allele association
Alloimmunization
Antibodies in carriers
Antibody specificity: D (RH1)
Summary: allo-anti-D (last update: Dec. 28, 2020)Detailed information
-
von Zabern I et al. Transfusion (2013)
- Ab specificity: D (RH1)
- Number (auto- or allo-):
- Number listed as allo-: 7
- 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°19, 20, 28, 54, 58, 78, 86)
-
Mouro I et al. Blood (1994)
- Ab specificity: D (RH1)
- Number (auto- or allo-): "some"
- 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: "some individuals included in this study have developped anti-D"
Antibodies in D negative recipients
Alloimmunization in recipients: expected to be possible, see phenotype data
Reports
Summary: frequent descriptions, mainly in individuals of Central or Western European descent or compatible with such descent; also described in a few Eastern Asian individuals (last update: Dec. 28, 2020)Detailed reports
- 8 samples in French population
- 1 sample in the Australian population
- 2/2 distribution of DVI samples from Northern Germany German
- 7/15 distribution of DVI samples from Southwestern Germany German
- 0/146 donors with weak D phenotype White, in the Austrian (Tyrol) population
- 3/270 donors with weak D phenotype White, in the German (Northern Germany) population
- 2/17 distribution of samples with DVI phenotype in donors Spanish
- 8/191 (6 donors and 2 patients) among 191 samples with weak D expression or unclear D phenotype within 44,743 donors and 8,604 patients tested in the Austrian population, Upper Austria
- 7/163 selected variants included for the development of a genotyping assay mainly in the Dutch population (samples may have been included in other studies)
- 2/32 donors suspected to have weak D or partial D phenotypes sent to a reference laboratory Chinese (Zhejiang Han)
- 14/627 weak D typing (95% from patients, 5% from donors; 21,2% were identified as RHef00442 or RHef00446 by authors, "mostly (…) inconclusive serology consequent to recent transfusion") in the Belgian (Flanders) population
- 41/37782 (1 heterozygous with RHef00452) 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
- 2/400 among random blood and bone marrow donors genotyped for RHD in the Brazilian population (Parana state, Southern Brazil)
- 1/100 donors with weak D phenotype Australia
- 1/662 among 662 pregnant patients with apparent D negative phenotype, enroled for fetal genotyping Caucasian (in the Australian population)
- 1/129 (hemizygous) donors with weak D phenotype Thai
- 2/57 samples with ambiguous D phenotype among about 15,800 samples tested (22/5,800 donors and 35/10,000 patients had ambiguous D phenotype) presumed Caucasian, in the Danish population (91,4% Caucasian)
- 4/94 donors with discreapancies in D typing Southeast Brazil
- 2 hemizygotes listed as RHD*DVI.2 and RHD*D−CE(4−6)−D, respectively 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]
- Mouro I et al. Rearrangements of the blood group RhD gene associated with the DVI category phenotype. Blood, 1994. [Citation] [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]
- Matassi G et al. Characterization of the recombination hot spot involved in the genomic rearrangement leading to the hybrid D-CE-D gene in the D(VI) phenotype. Am J Hum Genet, 1997. [Citation] [RHeference]
- Maaskant-van Wijk PA et al. Evidence That the RHDVI Deletion Genotype Does Not Exist Blood, 1997. [Citation] [RHeference]
- Avent ND et al. Molecular analysis of Rh transcripts and polypeptides from individuals expressing the DVI variant phenotype: an RHD gene deletion event does not generate All DVIccEe phenotypes. Blood, 1997. [Citation] [RHeference]
- Maaskant-van Wijk PA et al. Genotyping of RHD by multiplex polymerase chain reaction analysis of six RHD-specific exons. Transfusion, 1998. [Citation] [RHeference]
- Wagner FF et al. Three molecular structures cause rhesus D category VI phenotypes with distinct immunohematologic features. Blood, 1998. [Citation] [RHeference]
- Avent ND et al. The rhesus blood group system: insights from recent advances in molecular biology. Transfus Med Rev, 1999. [Citation] [RHeference]
- Wagner FF et al. Weak D alleles express distinct phenotypes. Blood, 2000. [Citation] [RHeference]
- Müller TH et al. PCR screening for common weak D types shows different distributions in three Central European populations. Transfusion, 2001. [Citation] [RHeference]
- Wagner FF et al. A D(V)-like phenotype is obliterated by A226P in the partial D DBS. 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]
- Esteban R et al. The D category VI type 4 allele is prevalent in the Spanish population. Transfusion, 2006. [Citation] [RHeference]
- Polin H et al. Effective molecular RHD typing strategy for blood donations. Transfusion, 2007. [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]
- 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]
- Haer-Wigman L et al. RHD and RHCE variant and zygosity genotyping via multiplex ligation-dependent probe amplification. Transfusion, 2013. [Citation] [RHeference]
- Wagner FF et al. The Rhesus Site. Transfus Med Hemother, 2014. [Citation] [RHeference]
- A C Gaspardi et al. RHD variants in blood donors from Southeast Brazil. Transfusion, 2015. — Abstract — [RHeference]
- He J et al. Molecular basis and zygosity determination of D variants including identification of four novel alleles in Chinese individuals. Transfusion, 2015. [Citation] [RHeference]
- Van Sandt VS et al. RHD variants in Flanders, Belgium. Transfusion, 2015. [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]
- Zacarias JM et al. Frequency of RHD variants in Brazilian blood donors from Parana State, Southern Brazil. Transfus Apher Sci, 2016. [Citation] [RHeference]
- McGowan EC et al. Diverse and novel RHD variants in Australian blood donors with a weak D phenotype: implication for transfusion management. Vox Sang, 2017. [Citation] [RHeference]
- Hyland CA et al. Non-invasive fetal RHD genotyping for RhD negative women stratified into RHD gene deletion or variant groups: comparative accuracy using two blood collection tube types. Pathology, 2017. [Citation] [RHeference]
- Stef M et al. RH genotyping by nonspecific quantitative next-generation sequencing. Transfusion, 2020. [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]
- 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