partly characterized RHD*01N.06 or RHD*03N.01 (RHD or DIIIa-CEVS(4-7)-D) (partly characterized or subtypes not separated)
(ISBT table: not listed)
This entry is partly characterized.
RHD or DIIIa-CEVS(4-7)-D - partly characterized or subtypes not separated,
Molecular data
Nucleotides:
Amino acids:
Hybrid allele encompassing at least one RHCE exon:
RHD-RHCE(4-7)-RHD
Comments on the molecular basis:
Extracellular position of one or more amino acid substitutions:
Splicing:
Unconventional prediction methods:
Phenotype
Main D phenotype: D negative (DEL excluded) (last update: Jan. 10, 2021)Reports by D phenotype
Other RH phenotypes: RH:2, -3, -10, 20, 2,
Serology with monoclonal anti-D
Antigen Density (Ag/RBC)
More phenotype data
Rhesus Similarity Index
Haplotype
Main CcEe phenotype association: Often Ccee phenotype because the more common RHef00452 is responsible for a C positive (or weak) phenotype (last update: April 28, 2020)| ce | Ce | cE | CE | |
|---|---|---|---|---|
| ce | 0 | 315 | 0 | 0 |
| Ce | 0 | 3 | 0 | |
| cE | 0 | 0 | ||
| CE | 0 |
Reports by CcEe phenotype
Reports by allele association
Alloimmunization
Antibodies in carriers
Antibody specificity: D (RH1)
Summary: not relevant, see types or alleles (last update: Aug. 25, 2020)Detailed information
Antibodies in D negative recipients
Alloimmunization in recipients: not expected, see phenotype data
Reports
Summary: common allele, mainly in African or African descent, or possible descent (last update: Dec. 9, 2020)Detailed reports
- 6 samples donors in the UK population
- 4/34 donors with D negative phenotype, typed for the presence of RHD exon 10 and intron 4 Ghanaian
- 6/29 donors with D negative phenotype, typed for the presence of RHD exon 10 and intron 4 Black South African
- 12/54 donors with D negative phenotype, typed for the presence of RHD exon 10 and intron 4 African American
- 2/19 donors with D negative phenotype, typed for the presence of RHD exon 10 and intron 4 Zimbabwean
- 1/41 donors with D negative phenotype, typed for the presence of RHD exon 10 and intron 4 Mixed race South African
- 7/2012 2012 serologicaly D negative mothers, fetal genotyping showed some RHD gene in 26 in Portuguese population
- 11/110 (6 homozygous or hemizygous, 3 heterozygous with RHef00447, 1 with RHef00314, 1 with RHef00602) random individuals with D negative phenotype Congolese (from the city of Brazzaville)
- 7/239 (+1 heterozygous with RHef00447) among 2007 unrelated donors, 239 phenotyped as D negative were tested for RHD Intron 4 and Exon 10 in the Brazilian population (Sao Paulo, mainly racially mixed non-white skin color individuals)
- 2/448 448 donors with D negative phenotype, tested for the presence of RHD exon 10 in the Tunisian population
- 3/101 among 2450 donors with D negative phenotype, tested for RHD specific polymorphisms (101 were positive for the polymorphisms) Brazilian (Southeast and Northeast Brazil)
-
4/2000 among 2000 random donors (223 typed D negative), genotyped by amplifying RHD exons through 7 and 9 in the Tunisian population
(study may overlap with
25369614 ) - 9/2027 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
- 5/298 pregnant women with D negative phenotype who underwent non-invasive fetal RHD detection in the Argentinean population (Rosario)
- 9/405 donors with D negative phenotype, C and/or E positive, with RHD gene present Brazilian
- 46/1403 1043 donors with D negative phenotype, among 10417 random donors, were screened for RHD gene in the Brazilian population (Sao Paolo)
- 238/517 in a population of 67428 random donors, 8042 had D negative phenotype, among those, 517 were C and/or E positive and were screened for RHD gene in the Brazilian population (Sao Paolo)
- 10/3147 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)
Allele or phenotype frequency
Structure mapping
| Movement | Mouse Input | Touch Input | ||
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| 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
- Blunt T et al. Serotype switching in a partially deleted RHD gene. Vox Sang, 1994. [Citation] [RHeference]
- Singleton BK et al. The presence of an RHD pseudogene containing a 37 base pair duplication and a nonsense mutation in africans with the Rh D-negative blood group phenotype. Blood, 2000. [Citation] [RHeference]
- Noizat-Pirenne F et al. Rare RHCE phenotypes in black individuals of Afro-Caribbean origin: identification and transfusion safety. Blood, 2002. [Citation] [RHeference]
- Grootkerk-Tax MG et al. RHD(T201R, F223V) cluster analysis in five different ethnic groups and serologic characterization of a new Ethiopian variant DARE, the DIII type 6, and the RHD(F223V). Transfusion, 2006. [Citation] [RHeference]
- Flegel WA et al. How I manage donors and patients with a weak D phenotype. Curr Opin Hematol, 2006. [Citation] [RHeference]
- Pereira JC et al. Prenatal determination of the fetal RhD blood group by multiplex PCR: a 7-year Portuguese experience. Prenat Diagn, 2007. [Citation] [RHeference]
- J. Pereira et al. RHD Null Alleles in the Portuguese Population Transfusion Medicine, 2009. — Abstract — [RHeference]
- Touinssi M et al. Molecular analysis of inactive and active RHD alleles in native Congolese cohorts. Transfusion, 2009. [Citation] [RHeference]
- Westhoff CM et al. DIIIa and DIII Type 5 are encoded by the same allele and are associated with altered RHCE*ce alleles: clinical implications. Transfusion, 2010. [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]
- Moussa H et al. Molecular background of D-negative phenotype in the Tunisian population. Transfus Med, 2012. [Citation] [RHeference]
- Cruz BR et al. RHD alleles in Brazilian blood donors with weak D or D-negative phenotypes. Transfus Med, 2012. [Citation] [RHeference]
- Mota M et al. RHD allelic identification among D-Brazilian blood donors as a routine test using pools of DNA. J Clin Lab Anal, 2012. [Citation] [RHeference]
- O'Suoji C et al. Alloimmunization in sickle cell anemia in the era of extended red cell typing. Pediatr Blood Cancer, 2013. [Citation] [RHeference]
- Ouchari M et al. RHD alleles in the Tunisian population. Asian J Transfus Sci, 2013. [Citation] [RHeference]
- Daniels G et al. Variants of RhD--current testing and clinical consequences. Br J Haematol, 2013. [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]
- Boggione CT et al. Genotyping approach for non-invasive foetal RHD detection in an admixed population. Blood Transfus, 2017. [Citation] [RHeference]
- Dezan MR et al. Evaluation of the applicability and effectiveness of a molecular strategy for identifying weak D and DEL phenotype among D- blood donors of mixed origin exhibiting high frequency of RHD*Ψ. 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]
- de Paula Vendrame TA et al. Characterization of RHD alleles present in serologically RHD-negative donors determined by a sensitive microplate technique. Vox Sang, 2019. [Citation] [RHeference]
- Arnoni CP et al. Correlation among automated scores of agglutination, antigen density by flow cytometry and genetics of D variants. Transfus Apher Sci, 2019. [Citation] [RHeference]
- Floch A et al. Comment from Rheference Online ressource, 2020. — Online ressource — [RHeference]
Last update: Dec. 9, 2020