RHD*01N.43 - RHD*CE(1-3)-D
(ISBT table: RHD negative v4.0)
This entry is an hybrid RHD allele.
RHCE(1-3)-RHD(4-10), RHD*CE(1-3)-D, RHD*CE(1-3)-D (RHD*01N.43),
Molecular data
Nucleotides:
150T>C; 178A>C; 201G>A; 203G>A; 307T>C; 361T>A; 380T>C; 383A>G; 455A>C;
Amino acids: V50V; I60L; S67S; S68N; S103P; L121M; V127A; D128G; N152T;
Hybrid allele encompassing at least one RHCE exon:
RHCE(1-3)-RHD(4-10)
Comments on the molecular basis:
- if hybrid structure is correct, should also have 48G>C (W16C)
- "These possible hybrid alleles could also be caused by partial deletions (or) by combinations of hybrid alleles"
- see also "Additional comments" section on the RhesusBase http://www.rhesusbase.info/RHDRHCE(1-3)-RHD(4-10).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:-2, 4,
Serology with monoclonal anti-D
Antigen Density (Ag/RBC)
More phenotype data
Rhesus Similarity Index
Haplotype
Main CcEe phenotype association: cE (last update: June 11, 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: several descriptions, mainly in the German population (last update: April 29, 2020)Detailed reports
- 4/96 among almost 3 million blood donations, 621685 had D negative phenotype; 46133 donors were first time donors with D negative phenotype and, when tested, 96 had RHD intron 4 in the German population
- 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
- 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)
-
4/46,756 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 Germany
(overlaps with
999999913 ; some samples may overlap with full publications) (overlaps with999999988 ; some samples may overlap with19243542 )
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]
- Flegel WA et al. Six years' experience performing RHD genotyping to confirm D- red blood cell units in Germany for preventing anti-D immunizations. Transfusion, 2009. [Citation] [RHeference]
- Schmid P et al. Specific amino acid substitutions cause distinct expression of JAL (RH48) and JAHK (RH53) antigens in RhCE and not in RhD. Transfusion, 2010. [Citation] [RHeference]
- Wagner FF and Flegel WA et al. The Human RhesusBase Online ressource, 2011. — Online ressource — [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]
- 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]
- 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: June 11, 2020