RHD*06.01 - RHD*DVI.1
(ISBT table: RHD partial D v5.0)
This entry is an hybrid RHD allele.
DVI (DEL), DVI deletion type (obsolete), DVI type 1, DVI-1, RHD*D-cE(4-5)-D, RHD*D-cE(4-5)-D (DVI type 1), RHD-RHcE(4-5)-RHD,
Molecular data
Nucleotides:
505A>C; 509T>G; 514A>T; 544T>A; 577G>A; 594A>T; 602C>G; 667T>G; 676G>C; 697G>C; 712G>A; 733G>C; 744C>T; 787G>A; 800A>T;
Amino acids: M169L; M170R; I172F; S182T; E193K; K198N; T201R; F223V; A226P; E233Q; V238M; V245L; S248S; G263R; K267M;
Hybrid allele encompassing at least one RHCE exon:
RHD-RHcE(4-5)-RHD
Comments on the molecular basis:
- molecular analysis initially erroneously interpreted as deletion of exons 4 to 6
- same samples initially interpreted as "deletion type" are demonstrated to be hybrid alleles
- demonstrates Proline 226 on RHD hybrid allele
- demonstrates Proline 226 on hybrid allele
- molecular basis deduced by authors from the results of cDNA analysis
- 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: Aug. 9, 2020)Reports by D phenotype
Other RH phenotypes: RH:-2, -5, -23, -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 | 0 | 10 | 0 |
Ce | 0 | 3 | 0 | |
cE | 24 | 0 | ||
CE | 0 |
Reports by CcEe phenotype
- with ccEe 2 samples
- with cE 10 samples (haplotype given, not complete phenotype)
- with CcEe 2 samples
1 sample (some samples overlap with
3 samples (3 samples used as controls, may have been included in other studies)
4 samples
14 samples (haplotype given, not complete phenotype)
0 samples (Table 2; no sample count, presented as a general association) (Figure 2; presented as a general association, no sample count)
1 sample
Reports by allele association
Alloimmunization
Antibodies in carriers
Antibody specificity: D (RH1)
Summary: allo-anti-D (last update: Aug. 9, 2020)Detailed information
-
von Zabern I et al. Transfusion (2013)
- Ab specificity: D (RH1)
- Number (auto- or allo-):
- Number listed as allo-: 3
- 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°66, 69, 72)
-
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 European (Caucasian) descent or compatible with such descent (last update: Aug. 9, 2020)Detailed reports
- 2 samples in French population
- 1 sample sample tested during a workshop referred by a UK lab
- 3 samples in the Czech (Prague) population
- 1 sample in the Finnish population
- 9/9 distribution of DVI samples from Tyrol (Austria) Austrian
- 5/15 distribution of DVI samples from Southwestern Germany German
- 0/270 donors with weak D phenotype White, in the German (Northern Germany) population
- 15/146 donors with weak D phenotype White, in the Austrian (Tyrol) population
- 2/8442 (2 of the 5 donors who were really weakly D positive) 8442 donors with D negative phenotype, screened for presence of the RHD gene in two surveys; 754 donors were C and/or E positive, the rest were ccee phenotype; 5 donors were revealed to be weakly D positive in the German population (Baden-Wurttemberg)
- 1/738 samples with D negative, but C and/or E positive phenotype, screened for RHD specific sequences (in the 5'UTR region, exon 3 and exon 10) in the Austrian (state of Tyrol) population
- 0/104 samples with D negative, but C and/or E positive phenotype, screened for RHD specific sequences (in the 5'UTR region, exon 3 and exon 10) in the Swiss (Bern and the canton of Bern) population
- 0/333 samples with D negative, but C and/or E positive phenotype, screened for RHD specific sequences (in the 5'UTR region, exon 3 and exon 10) in the Slovenian population
- 0/54 samples with D negative, but C and/or E positive phenotype, screened for RHD specific sequences (in the 5'UTR region, exon 3 and exon 10) in the German (city of Braunschweig and eastern parts of Lower Saxony) population
- 0/400 samples with D negative, but C and/or E positive phenotype, screened for RHD specific sequences (in the 5'UTR region, exon 3 and exon 10) in the German (states of Lower Saxony, Saxony- Anhalt, Thuringia, Oldenburg, and Bremen) population
- 0/71 samples with D negative, but C and/or E positive phenotype, screened for RHD specific sequences (in the 5'UTR region, exon 3 and exon 10) in the Russian (Kirov Oblast) population
- 4/17 distribution of DVI samples in donors Spanish
- 8/191 (5 donors and 3 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
- 2/163 selected variants included for the development of a genotyping assay mainly in the Dutch population (samples may have been included in other studies)
- 1 sample (heterozygous with RHef00085) reported by a French lab from Brest, Brittany
- 10/627 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
- 6/37782 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
- 10/104 (prevalence among weak D) or 10/21353 (phenotypic prevalence in population) 104 with weak D phenotype were genotyped in a cohort of 21353 pregnant women admixed Brazilian
- 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
- 1/185 RH:–1,–4 or RH:–1,–5 recipients reported by a French lab
- 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]
- Mouro I et al. Rearrangements of the blood group RhD gene associated with the DVI category phenotype. Blood, 1994. [Citation] [RHeference]
- Armstrong-Fisher SS et al. Molecular analysis of DVI variant ISBT 35 (R2VIr). Transfus Clin Biol, 1996. [Citation] [RHeference]
- Maaskant-van Wijk PA et al. Evidence That the RHDVI Deletion Genotype Does Not Exist Blood, 1997. [Citation] [RHeference]
- Huang CH et al. Human DVI category erythrocytes: correlation of the phenotype with a novel hybrid RhD-CE-D gene but not an internally deleted RhD gene. 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]
- Legler TJ et al. RHD genotyping in weak D phenotypes by multiple polymerase chain reactions. Transfusion, 1998. [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]
- Wagner FF et al. RHD positive haplotypes in D negative Europeans. BMC Genet, 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]
- Wagner FF et al. The DAU allele cluster of the RHD gene. Blood, 2002. [Citation] [RHeference]
- Gassner C et al. Presence of RHD in serologically D-, C/E+ individuals: a European multicenter study. Transfusion, 2005. [Citation] [RHeference]
- Körmöczi GF et al. Novel weak D types 31 and 32: adsorption-elution-supported D antigen analysis and comparison to prevalent weak D types. Transfusion, 2005. [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]
- Fichou Y et al. A convenient qualitative and quantitative method to investigate RHD-RHCE hybrid genes. Transfusion, 2013. [Citation] [RHeference]
- Daniels G et al. Variants of RhD--current testing and clinical consequences. Br J Haematol, 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]
- 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]
- Srivastava K et al. The DAU cluster: a comparative analysis of 18 RHD alleles, some forming partial D antigens. Transfusion, 2016. [Citation] [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]
- Dezan MR et al. High frequency of variant RHD genotypes among donors and patients of mixed origin with serologic weak-D phenotype. J Clin Lab Anal, 2018. [Citation] [RHeference]
- Bub CB et al. RHD alleles among pregnant women with serologic discrepant weak D phenotypes from a multiethnic population and risk of alloimmunization. J Clin Lab Anal, 2018. [Citation] [RHeference]
- Jérôme Babinet et al. Erratum à l’article : « Résumés des Posters » [Transfus. Clin. Biol. 24 (2017) 3S] Transfusion Clinique et Biologique, 2018. — Abstract — [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