RHD*01EL.44 - RHD*-CE(4-9)-D
(ISBT table: weak D and Del v5.0)
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; 1170T>C; 1193A>T;
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; L390L; E398V;
Hybrid allele encompassing at least one RHCE exon:
RHD-RHCE(4-9)-RHD
Comments on the molecular basis:
Extracellular position of one or more amino acid substitutions:
Splicing:
Unconventional prediction methods:
Phenotype
Main D phenotype: DEL (last update: April 29, 2020)Reports by D phenotype
Other RH phenotypes: RH:-2, -3, -4,
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: Jan. 8, 2021)ce | Ce | cE | CE | |
---|---|---|---|---|
ce | 0 | 8 | 3 | 0 |
Ce | 1 | 1 | 0 | |
cE | 0 | 0 | ||
CE | 0 |
Reports by CcEe phenotype
- with Ccee 1 sample (study may overlap with
- with ccEe 1 sample (study may overlap with
- with Ce 1 sample (study may overlap with
- with CcEe 1 sample (study may overlap with
5 samples
2 samples
2 samples (study may overlap with
Reports by allele association
Alloimmunization
Antibodies in carriers
Antibody specificity: D (RH1)
Summary: allo-anti-D (last update: Nov. 17, 2019)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: 2 (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 109µmol/L
- Comment:
-
Xu W et al. Transfus Med Hemother (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: negative
- Elution:
- Autoadsorption:
- Titer: 128
- 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: newborn had positive DAT on cord blood; total bilirubin 24h after delivery was 185 µmol/L, no anemia at birth; received phototherapy and maybe transfusion (ambiguous)
- Comment:
-
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: 2 (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 134µmol/L
- Comment:
-
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: 128 (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: child had "+", severe HDFN with peak bilirubin 416µmol/L
- Comment:
Antibodies in D negative recipients
Alloimmunization in recipients: expected to be possible, see phenotype data
Reports
Summary: several descriptions, in Eastern Asian and European individuals (last update: May 2, 2020)Detailed reports
- 2/23330 donor samples with D negative phenotype tested for RHD exons 4, 7 and 10 (94 were PCR positive, 74 weak D or DEL in subsequent serologic analysis) in the Austrian population, Upper Austria
- 2/733 donors with D negative phenotype Chinese (Shanghai)
- 1/279 DEL (or /400253 all phenotypes) among 400253 random donors, 1585 had apparent D negative phenotype, but among those, 279 were DEL in the Chinese (Shanghai) population
-
2/26243 donors with D negative phenotype in three studies with different inclusion criteria in the Swiss population (Zurich and Berne)
(study may overlap with
24679597 ) -
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 ) - 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
-
1/178 DEL phenotype pregnant women Han Chinese
(study may overlap with
26033335 ) -
7/142 pregnant women with D negative phenotype Han Chinese
(study may overlap with
25960711 ) - 6/171 (hemizygous) donors with D negative phenotype, C and/or E positive Indian
- 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)
- 1/3147 3147 D negative samples screened for RHD intron 3/intron 4, exon 7 and 3'UTR specific sequences, 36 were positive in Portuguese population (mainly central Portugal)
- 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]
- Li Q et al. Molecular basis of the RHD gene in blood donors with DEL phenotypes in Shanghai. Vox Sang, 2009. [Citation] [RHeference]
- J. Pereira et al. RHD Null Alleles in the Portuguese Population Transfusion Medicine, 2009. — Abstract — [RHeference]
- Ye L et al. Molecular bases of unexpressed RHD alleles in Chinese D- persons. Transfusion, 2009. [Citation] [RHeference]
- Polin H et al. Identification of RHD alleles with the potential of anti-D immunization among seemingly D- blood donors in Upper Austria. Transfusion, 2009. [Citation] [RHeference]
- Gowland P et al. Molecular RHD screening of RhD negative donors can replace standard serological testing for RhD negative donors. Transfus Apher Sci, 2014. [Citation] [RHeference]
- Crottet SL et al. Implementation of a mandatory donor RHD screening in Switzerland. Transfus Apher Sci, 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]
- 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]
- Xu W et al. Prospective Evaluation of a Transfusion Policy of RhD-Positive Red Blood Cells into DEL Patients in China. Transfus Med Hemother, 2015. [Citation] [RHeference]
- Wang M et al. Anti-D alloimmunisation in pregnant women with DEL phenotype in China. Transfus Med, 2015. [Citation] [RHeference]
- Kulkarni SS et al. RHD-Positive Alleles among D- C/E+ Individuals from India. Transfus Med Hemother, 2018. [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]
- 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