RHD*01EL.31 - RHD*DEL31
(ISBT table: weak D and Del v5.0)
This entry is an RHD allele.
RHD(IVS1+1G>T), RHD*148+1G>T, RHD*148+1T, RHD*148+1T (IVS1+1T, DEL31),
Molecular data
Nucleotides:
intronic 148G>T;
Amino acids: 0;
Hybrid allele encompassing at least one RHCE exon:
no
Comments on the molecular basis:
Extracellular position of one or more amino acid substitutions:
- Silent or intronic mutations: none of the mutations are predicted to affect an extracellular amino acid.
Splicing:
Unconventional prediction methods:
Phenotype
Main D phenotype: DEL (last update: Nov. 17, 2019)Reports by D phenotype
Other RH phenotypes: RH:-2, -3,
Serology with monoclonal anti-D
Antigen Density (Ag/RBC)
More phenotype data
Rhesus Similarity Index
Haplotype
Main CcEe phenotype association: ce (last update: Jan. 8, 2021)Alloimmunization
Antibodies in carriers
Antibody specificity: D (RH1)
Summary: allo-anti-D (last update: Nov. 17, 2019)Detailed information
-
Turley E et al. Transfusion (2018)
- Ab specificity: D (RH1)
- Number (auto- or allo-):
- Number listed as allo-: 1
- Number listed as auto-:
- Number of carriers of the allele assessed:
- DAT: MD
- Autologuous control: MD
- Elution: MD
- Autoadsorption: MD
- Titer: up to 32
- Was anti-LW excluded?: MD
- Other antibodies detected: MD
- Cross matches (with Ab and RBCs from different partial types): ND
- Transfusion history: none
- Pregnancy history:
- Anti-D Ig history: none received
- Context: pregnancy
- Hemolytic consequences: 1 infant with strongly positive DAT with low maternal anti-D titer (2nd pregnancy); intrauterine transfusion and neonatal transfusion required for 1 infant (4th pregnancy)
- Comment:
Antibodies in D negative recipients
Alloimmunization in recipients: expected to be possible, see phenotype data
Reports
Summary: rare descriptions, Caucasian, possibly of European descent (last update: Dec. 22, 2019)Detailed reports
- 2/25 among 25 donor and prenatal patient samples from different countries with discrepancies between targeted genotyping and serology Caucasian
- 1/351 out of 351 prenatal patients with discrepant D phenotyping results (population tested 608486 patients) Canada
- 1 sample reported by an Australian lab
- 1/136000 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)
- 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]
- Garcia F et al. New RHD variant alleles. Transfusion, 2015. [Citation] [RHeference]
- Clarke G et al. Resolving variable maternal D typing using serology and genotyping in selected prenatal patients. Transfusion, 2016. [Citation] [RHeference]
- Turley E et al. Severe hemolytic disease of the fetus and newborn due to allo-anti-D in a patient with a partial DEL phenotype arising from the variant allele described as RHD*148+1T (RHD*01EL.31). Transfusion, 2018. [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]
- Stef M et al. RH genotyping by nonspecific quantitative next-generation sequencing. Transfusion, 2020. [Citation] [RHeference]
- Floch A et al. Comment from Rheference Online ressource, 2020. — Online ressource — [RHeference]
Last update: Jan. 8, 2021