RHD*01N.07 - RHD*D-CE(4-7)-D
(ISBT table: RHD negative v4.0)
This entry is an hybrid RHD allele.
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; 941G>T; 968C>A; 974G>T; 979A>G; 985GG>CA deletion-insertion; 989A>C; 992A>T; 1025T>C; 1048G>C; 1053C>T; 1057GGA>TGG deletion-insertion; 1060GC>AA deletion-insertion;
Amino acids: M169L; M170R; I172F; S182T; E193K; K198N; T201R; F223V; E233Q; V238M; V245L; S248S; G263R; K267M; V306I; Y311C; G314V; P323H; S325I; I327V; G329H; Y330S; N331I; I342T; D350H; T351T; G353W; A354N;
Hybrid allele encompassing at least one RHCE exon:
RHD-RHce(4-7)-RHD
Comments on the molecular basis:
- allele may or may not include RHCE intron 7 and/or exon 8 depending on publications
- hybrid structure was deduced from the PCR pattern; intron 7 derives from RHCE, exon 8 may derive from RHD or RHCE
- alleles listed as RHD-CE(4-8)-D and RHD-CE(4-7)-D included: see text for details
- see also "Additional comments" section on the RhesusBase http://www.rhesusbase.info/RHDRHD-RHCE(4-7)-RHD.htm http://www.rhesusbase.info/RHDRHD-RHCE(4-7)-RHD1.htm http://www.rhesusbase.info/RHDRHD-RHCE(4-7)-RHD2.htm http://www.rhesusbase.info/RHDRHD-RHCE(4-8)-RHD.htm
Extracellular position of one or more amino acid substitutions:
Splicing:
Unconventional prediction methods:
Phenotype
Main D phenotype: D negative or DEL (last update: May 19, 2020)Reports by D phenotype
Other RH phenotypes: RH:-2, -3, 12,
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. 23, 2020)ce | Ce | cE | CE | |
---|---|---|---|---|
ce | 1 | 3 | 4 | 0 |
Ce | 0 | 1 | 0 | |
cE | 0 | 0 | ||
CE | 0 |
Reports by CcEe phenotype
- with ccEe 1 sample (study may overlap with
- with ce 1 sample
- with Ccee 1 sample (study may overlap with
- with CcEe 1 sample (1 sample with RHCE-specific polymorphisms in intron 7)
3 samples (3 samples with RHD-specific polymorphisms in intron 7)
2 samples
Reports by allele association
Alloimmunization
Antibodies in carriers
Antibody specificity: D (RH1)
Summary: D negative, at risk for anti-D (last update: Aug. 30, 2020)Detailed information
-
Wang M et al. Transfus Med (2015)
(study may overlap with
- Ab specificity: D (RH1)
- Number (auto- or allo-): 1
- Number listed as allo-:
- Number listed as auto-:
- Number of carriers of the allele assessed:
- DAT:
- Autologuous control:
- Elution:
- Autoadsorption:
- Titer: 16 (with papain treated R2R2 RBCs)
- 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: pregnant women with DEL phenotype
- Hemolytic consequences: no HDFN, peak bilirubin 108µmol/L
- Comment:
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 and European descent, or compatible with such descent (last update: May 2, 2020)Detailed reports
- 4/8442 (3 with RHD-specific and 1 with RHCE-specific polymorphisms in intron 7) 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); 1 sample for allele listed as RHD-CE(4-7)-D and E positive phenotype, 0 samples for allele listed as RHD-CE(4-8)-D with C positive phenotype 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); 0 sample for allele listed as RHD-CE(4-7)-D and E positive phenotype, 0 samples for allele listed as RHD-CE(4-8)-D with C positive phenotype in the Swiss (Bern and the canton of Bern) 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); 0 sample for allele listed as RHD-CE(4-7)-D and E positive phenotype, 0 samples for allele listed as RHD-CE(4-8)-D with C positive phenotype in the German (city of Braunschweig and eastern parts of Lower Saxony) population
- 1/400 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); 0 sample for allele listed as RHD-CE(4-7)-D and E positive phenotype, 1 samples for allele listed as RHD-CE(4-8)-D with C positive phenotype 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); 0 sample for allele listed as RHD-CE(4-7)-D and E positive phenotype, 0 samples for allele listed as RHD-CE(4-8)-D with C positive phenotype in the Russian (Kirov Oblast) population
- 1/333 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); 0 sample for allele listed as RHD-CE(4-7)-D and E positive phenotype, 1 samples for allele listed as RHD-CE(4-8)-D with C positive phenotype in the Slovenian population
- 1/448 448 donors with D negative phenotype, tested for the presence of RHD exon 10 in the Tunisian population
- 1/31200 consecutive donors with D negative phenotype, tested for presence of RHD intron 4, exon 7 and/or exon 10 in the Polish population
-
2/25370 donors with D negative phenotype, screened for RHD exons 3 or 7, plus 5 and 10 in the Swiss population
(study may overlap with
24656493 ) - 1/42306 42306 donors were screened, of which 165 had apparent D negative phenotype, of which 41 were DEL phenotype and characterized at the molecular level East and South-East China
- 4/2027 2027 donors with D negative phenotype, C and/or E positive, screened for RHD exons 4, 5 and 10 and for DEL phenotype in the Australian population
- 1/3526 donors with D negative phenotype Japanese
-
1/142 pregnant women with apparent D negative phenotype Han Chinese
(study may overlap with
25960711 ) - 1/1174 donors with D negative phenotype United States population (Los Angeles)
- 1/526 among donors with D negative phenotype, C and/or E positive tested for presence of the RHD gene in the Argentinean population (Northwestern Argentina)
- 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
- 1/18036 (CI: 1/6678 - 1/66145) for allele with RHD-specific polymorphisms in intron 7 estimated allele frequency by testing 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)
- 1/45455 (CI: 1/8539 - 1/891266) for allele with RHCE-specific polymorphisms in intron 7 estimated allele frequency by testing 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)
- 1/31200 (CI: 1/6577 - 1/608187) estimated allele frequency in individuals with D negative phenotype in the Polish population
- 0.007 allele frequency among 140 SCD patients African American (in the USA population)
- 0.0 allele frequency among 480 African American donors African American (in the USA population)
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]
- Wagner FF et al. RHD positive haplotypes in D negative Europeans. BMC Genet, 2001. [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]
- Wagner FF and Flegel WA et al. The Human RhesusBase Online ressource, 2011. — Online ressource — [RHeference]
- Moussa H et al. Molecular background of D-negative phenotype in the Tunisian population. Transfus Med, 2012. [Citation] [RHeference]
- Orzińska A et al. RHD variants in Polish blood donors routinely typed as D-. Transfusion, 2013. [Citation] [RHeference]
- Gu J et al. Molecular basis of DEL phenotype in the Chinese population. BMC Med Genet, 2014. [Citation] [RHeference]
- Crottet SL et al. Implementation of a mandatory donor RHD screening in Switzerland. Transfus Apher Sci, 2014. [Citation] [RHeference]
- Scott SA et al. The RHD(1227G>A) DEL-associated allele is the most prevalent DEL allele in Australian D- blood donors with C+ and/or E+ phenotypes. Transfusion, 2014. [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]
- Ogasawara K et al. Molecular basis for D- Japanese: identification of novel DEL and D- alleles. Vox Sang, 2015. [Citation] [RHeference]
- Wang M et al. Anti-D alloimmunisation in pregnant women with DEL phenotype in China. Transfus Med, 2015. [Citation] [RHeference]
- Trucco Boggione C et al. Characterization of RHD locus polymorphism in D negative and D variant donors from Northwestern Argentina. Transfusion, 2019. [Citation] [RHeference]
- Perez-Alvarez I et al. RHD genotyping of serologic RhD-negative blood donors in a hospital-based blood donor center. Transfusion, 2019. [Citation] [RHeference]
- Stef M et al. RH genotyping by nonspecific quantitative next-generation sequencing. Transfusion, 2020. [Citation] [RHeference]
- Floch A et al. Comment from Rheference Online ressource, 2020. — Online ressource — [RHeference]
Last update: Jan. 8, 2021