RHD*01N.13
(ISBT table: RHD negative v4.0)
This entry is an RHD allele.
RHD*487_490delACAG, RHD*487_490delACAG or RHD*489_492delAGAC (RHD*01N.13), RHD*487delACAG, RHD*489delAGAC,
Molecular data
Nucleotides:
487del4;
Amino acids: D164Tfs*3;
Hybrid allele encompassing at least one RHCE exon:
no
Comments on the molecular basis:
- see also "Additional comments" section on the RhesusBase http://www.rhesusbase.info/RHDRHD(487delACAG).htm
Extracellular position of one or more amino acid substitutions:
Splicing:
Unconventional prediction methods:
Phenotype
Main D phenotype: D negative (DEL excluded) (last update: July 28, 2020)Reports by D phenotype
Other RH phenotypes: RH:-3,
- RH:-3 inferred from the reported RHCE phenotypes of the carriers
Serology with monoclonal anti-D
Antigen Density (Ag/RBC)
More phenotype data
Rhesus Similarity Index
Haplotype
Main CcEe phenotype association: Ce (last update: Aug. 15, 2020)Alloimmunization
Antibodies in carriers
Antibody specificity: D (RH1)
Summary: D negative, at risk for anti-D (last update: Aug. 25, 2020)Detailed information
Antibodies in D negative recipients
Alloimmunization in recipients: not expected, see phenotype data
Reports
Summary: rare descriptions, compatible with Western or Central European descent (last update: April 29, 2020)Detailed reports
- 1/28 samples (+2 related samples, heterozygous with RHef00442 in trans) donors with D negative phenotype White, in the Australian population
- 1/11 pregnant women with ambiguous fetal genotyping in French population
-
1/25370 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 ) - 1/2027 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
- 1/4000 D negative repeat donors genotyped for RHD, of which 13 had an RHD allele in Canadian (Quebec) population
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]
- Hyland CA et al. Three unrelated Rh D gene polymorphisms identified among blood donors with Rhesus CCee (r'r') phenotypes. Blood, 1994. [Citation] [RHeference]
- Andrews KT et al. The RhD- trait in a white patient with the RhCCee phenotype attributed to a four-nucleotide deletion in the RHD gene. Blood, 1998. [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]
- Wagner FF and Flegel WA et al. The Human RhesusBase Online ressource, 2011. — Online ressource — [RHeference]
- St-Louis R et al. DEL Blood donors alloimmunised patients: the Canadian experience Vox Sanguinis, 2012. — Abstract — [RHeference]
- Chen JM et al. Small deletions within the RHD coding sequence: a report of two novel mutational events and a survey of the underlying pathophysiologic mechanisms. Transfusion, 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]
- Crottet SL et al. Implementation of a mandatory donor RHD screening in Switzerland. Transfus Apher Sci, 2014. [Citation] [RHeference]
- Saleheen D et al. Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. Nature, 2017. [Citation] [RHeference]
- Floch A et al. Comment from Rheference Online ressource, 2020. — Online ressource — [RHeference]
Last update: July 28, 2020