RHD*01EL.02 - RHD*DEL2
(ISBT table: weak D and Del v5.0)
This entry is an RHD allele.
RHD(M1I), RHD*3A, RHD*3A (DEL2), RHD*3G>A,
Molecular data
Nucleotides:
3G>A;
Amino acids: M1I;
Hybrid allele encompassing at least one RHCE exon:
no
Comments on the molecular basis:
- mutation on first codon may lead to a frameshift
- On Aug 25, 2016, Genbank entries DQ310735 and DQ310734 were replaced by AH015503; it is unclear whether alleles RHD(M1I) RHef00194 and RHD(L84P) RHef00191 are in fact the same allele.
- mutation of the start codon
Extracellular position of one or more amino acid substitutions:
- No RhD protein is expected to be produced. However a DEL or D positive phenotype has been reported (see Phenotype section), implying the contrary. The resulting antigen may have an altered conformation.
Splicing:
Unconventional prediction methods:
Phenotype
Main D phenotype: DEL (last update: Nov. 17, 2019)Reports by D phenotype
Other RH phenotypes: RH:-2, -3, -4, -5,
Serology with monoclonal anti-D
Antigen Density (Ag/RBC)
More phenotype data
Rhesus Similarity Index
Haplotype
Main CcEe phenotype association: Ce is the most frequent association (last update: Aug. 15, 2020)| ce | Ce | cE | CE | |
|---|---|---|---|---|
| ce | 0 | 9 | 1 | 0 |
| Ce | 1 | 0 | 2 | |
| cE | 0 | 0 | ||
| CE | 0 |
Reports by CcEe phenotype
Reports by allele association
Alloimmunization
Antibodies in carriers
Antibody specificity: D (RH1)
Summary: no published cases (last update: Nov. 17, 2019)Detailed information
Antibodies in D negative recipients
Alloimmunization in recipients: expected to be possible, see phenotype data
Reports
Summary: few descriptions, in the Chinese and Northern European populations, possible Eastern Asian descent (last update: Dec. 22, 2019)Detailed reports
- 4/279 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
- 1/7 donors with D negative phenotype (out of donor population 22000), C or E positive (leaves: 233 donors) and amplification of RHD exon 10 (leaves:7) Danish
-
8/178 DEL phenotype pregnant women Han Chinese
(study may overlap with
26033335 ) -
2/46,756 first time donors with D negative phenotype, tested for RHD exon 7 and adsorption-elution with a polyclonal anti-D in the German population (Northern)
(overlaps with
999999988 ; some samples may overlap with full publications) (overlaps with999999913 ; some samples may overlap with full publications) - 2 to 10 /136000 among about 136.000 donors with D negative phenotype, systematically tested for the presence of the RHD gene; the RHD gene was detected in 300 donors in the German population (some samples may overlap with other studies)
Allele or phenotype frequency
Structure mapping
| Movement | Mouse Input | Touch Input | ||
|---|---|---|---|---|
| Rotation | Primary Mouse Button | Single touch | ||
| 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]
- National Center for Biotechnology Information et al. Data from Genbank submission Online ressource, 1982. — Online ressource — [RHeference]
- Li Q et al. [Study on the molecular background of Del phenotype in Chinese population]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2006. [Citation] [RHeference]
- Li Q et al. Molecular basis of the RHD gene in blood donors with DEL phenotypes in Shanghai. Vox Sang, 2009. [Citation] [RHeference]
- Christiansen M et al. RHD positive among C/E+ and D- blood donors in Denmark. Transfusion, 2010. [Citation] [RHeference]
- Wagner FF et al. RHD PCR of blood donors in Northern Germany: use of adsorption/elution to determine D antigen status Vox Sanguinis, 2012. — Abstract — [RHeference]
- F F Wagner et al. Single Adsorption / Elution with Anti-D May Be Insufficient to Determine the D Antigen Status of Very Weak DEL Alleles Transfusion, 2012. — Abstract — [RHeference]
- Ye SH et al. A comprehensive investigation of RHD polymorphisms in the Chinese Han population in Xi'an. Blood Transfus, 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]
- Wagner F. et al. Results of more than ten years testing of RhD negative first time donors by RHD PCR Transfus Med Hemother, 2019. — Abstract — [RHeference]
- Floch A et al. Comment from Rheference Online ressource, 2020. — Online ressource — [RHeference]
Last update: Aug. 22, 2020