RHD*10.04 - RHD*DAU4
(ISBT table: RHD partial D v5.0)
This entry is an RHD allele.
DAU-4, RHD(E233K,T379M), RHD*697A,1136T, RHD*697A,1136T (DAU4), RHD*697G>A,1136C>T,
Molecular data
Hybrid allele encompassing at least one RHCE exon:
no
Comments on the molecular basis:
Extracellular position of one or more amino acid substitutions:
Splicing:
Unconventional prediction methods:
Phenotype
Main D phenotype: variable/discrepant (last update: Dec. 28, 2020)Reports by D phenotype
Other RH phenotypes: RH:-2, -3, -23,
Serology with monoclonal anti-D
Antigen Density (Ag/RBC)
More phenotype data
Haplotype
Main CcEe phenotype association: ce (last update: Dec. 28, 2020)ce | Ce | cE | CE | |
---|---|---|---|---|
ce | 1 | 0 | 0 | 0 |
Ce | 0 | 1 | 0 | |
cE | 0 | 0 | ||
CE | 0 |
Reports by CcEe phenotype
Reports by allele association
Alloimmunization
Antibodies in carriers
Antibody specificity: D (RH1)
Summary: allo-anti-D (last update: Dec. 28, 2020)Detailed information
-
von Zabern I et al. Transfusion (2013)
- 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: ND
- Autologuous control: ND
- Elution: ND
- Autoadsorption: ND
- Titer: ND
- Was anti-LW excluded?: yes
- Other antibodies detected: ND
- Cross matches (with Ab and RBCs from different partial types): ND
- Transfusion history: ND
- Pregnancy history:
- Anti-D Ig history: ND, probably none
- Context: ND
- Hemolytic consequences: ND
- Comment:
Wagner FF et al. Transfus Med Hemother (2014) (RIR n°55)
-
Denomme GA et al. Transfusion (2005)
- Ab specificity: D (RH1)
- Number (auto- or allo-): 0
- Number listed as allo-:
- Number listed as auto-:
- Number of carriers of the allele assessed:
- DAT: NA
- Autologuous control: NA
- Elution: NA
- Autoadsorption: NA
- Titer: NA
- Was anti-LW excluded?: NA
- Other antibodies detected: NA
- Cross matches (with Ab and RBCs from different partial types): NA
- Transfusion history: NA
- Pregnancy history:
- Anti-D Ig history: NA
- Context: NA
- Hemolytic consequences: NA
- Comment: lists exposures to standard D antigen and patient blood management for several carriers
-
Ipe TS et al. J Pediatr Hematol Oncol (2015)
- Ab specificity: D (RH1)
- Number (auto- or allo-): 1
- Number listed as allo-:
- Number listed as auto-:
- Number of carriers of the allele assessed:
- DAT: negative
- Autologuous control: ND
- Elution: ND
- Autoadsorption: ND
- Titer: ND
- Was anti-LW excluded?: ND
- Other antibodies detected: none (developped anti-JK2 later on)
- Cross matches (with Ab and RBCs from different partial types): ND
- Transfusion history: exposure to a single D+ RBC unit
- Pregnancy history:
- Anti-D Ig history: ND, probably none
- Context: SCD patient
- Hemolytic consequences: severe delayed hemolytic transfusion reaction 10 days after transfusion
- Comment: antibody screen was negative before the transfusion; reactivity 1+ using gel method when the Ab was first detected
Chou ST et al. Blood Cells Mol Dis (2017)
-
Sippert E et al. Blood Transfus (2015)
- 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: ND
- Autologuous control: ND
- Elution: ND
- Autoadsorption: ND
- Titer: ND
- Was anti-LW excluded?: ND
- Other antibodies detected: ND
- Cross matches (with Ab and RBCs from different partial types): ND
- Transfusion history: yes, number and phenotypes ND
- Pregnancy history:
- Anti-D Ig history: ND, probably none
- Context: among 48 SCD patients with RH antibodies despite antigen-matched transfusion protocols
- Hemolytic consequences: 1 of the 13 patients with delayed hemolytic transfusion reactions or decreased survival of transfused RBCs had this allele
- Comment: study does not detail serology for each sample, but mentions performing DAT, autologuous control, eluate studies and adsorption on autologuous RBCs to aid the differenciation of autoantibodies and alloantibodies
-
Chou ST et al. Blood (2013)
(Patient ID 292)
- Ab specificity: D (RH1)
- Number (auto- or allo-): 1 (patient heterozygous with RHef00008)
- Number listed as allo-:
- Number listed as auto-:
- Number of carriers of the allele assessed:
- DAT: ND
- Autologuous control: ND
- Elution: ND
- Autoadsorption: ND
- Titer: ND
- Was anti-LW excluded?: ND
- Other antibodies detected: none
- Cross matches (with Ab and RBCs from different partial types): ND
- Transfusion history: 2 RBC exposures
- Pregnancy history:
- Anti-D Ig history: ND, probably none
- Context: SCD child
- Hemolytic consequences: delayed hemolytic transfusion reaction
- Comment:
-
Noizat-Pirenne F et al. Transfus Clin Biol (2011)
(review)
- Ab specificity: D (RH1)
- Number (auto- or allo-):
- Number listed as allo-: no new case detailed (listed as alloanti-D)
- Number listed as auto-: NA
- Number of carriers of the allele assessed: NA
- DAT: NA
- Autologuous control: NA
- Elution: NA
- Autoadsorption: NA
- Titer: NA
- Was anti-LW excluded?: NA
- Other antibodies detected: NA
- Cross matches (with Ab and RBCs from different partial types): NA
- Transfusion history: NA
- Pregnancy history:
- Anti-D Ig history: NA
- Context: NA
- Hemolytic consequences: NA
- Comment: list of D variants associated with alloanti-D formation
Antibodies in D negative recipients
Alloimmunization in recipients: expected to be possible, see phenotype data
Reports
Summary: several descriptions, in individuals of African descent, or compatible with such descent (last update: Dec. 28, 2020)Detailed reports
- 1 sample samples referred for ambiguous D phenotype African
- 1/55 55 discrepant or weak D phenotypes among 33864 multiethnic patients (of African, Asian, Indoasian and European extraction) in the Canadian (Toronto) population
- 1/45 (prevalence among weak D) or 1/12672 (phenotypic prevalence in population) 45 patients with weak D phenotype were genotyped in a cohort of 12672 patients from a public hospital Argentinean
- 0/43 (prevalence among weak D phenotype) or 0/5707 (phenotypic prevalence in population) 43 patients with weak D phenotype were genotyped in a cohort of 5707 patients from a private laboratory Argentinean
- 4/205 (1 heterozygous with RHef00050) weak D phenotype African descent in the French population
- 2 alleles in 226 patients SCD children systematically genotyped in an alloimmunization study in the USA population (Philadelphia)
- 1/220 the cohort was composed of 164 Teke-Congolese (ethnic groups: 60 Akwa, 52 Mbochi, 52 Kuyu) from Congo, 19 Mandenka from Senegal, 25 Yoruba from Nigeria, 12 Bantu from Kenya Nonpygmoid Central African
- 0/127 the cohort was composed of 77 Tswa from Congo, 36 Biaka from Central African Republic, 14 Mbuti from Democratic Republic of the Congo Pygmoid Central African
- 1/48 among 48 SCD patients with RH antibodies despite antigen-matched transfusion protocols African Brazilian
- 2/351 out of 351 prenatal patients with discrepant D phenotyping results (population tested 608486 patients) (1 heterozygous with RHef00447) Canada
- 8/353 (including 1 heterozygous with RHef00018) samples referred for discrepant or weak D typing in the USA population
- 2/94 donors with discreapancies in D typing Southeast Brazil
- 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
- Wagner FF et al. The DAU allele cluster of the RHD gene. Blood, 2002. [Citation] [RHeference]
- Denomme GA et al. Partial D, weak D types, and novel RHD alleles among 33,864 multiethnic patients: implications for anti-D alloimmunization and prevention. Transfusion, 2005. [Citation] [RHeference]
- Chen Q et al. Random survey for RHD alleles among D+ European persons. Transfusion, 2005. [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. DCS-1, DCS-2, and DFV share amino acid substitutions at the extracellular RhD protein vestibule. Transfusion, 2008. [Citation] [RHeference]
- Flegel WA et al. D variants at the RhD vestibule in the weak D type 4 and Eurasian D clusters. Transfusion, 2009. [Citation] [RHeference]
- Noizat-Pirenne F et al. Relevance of RH variants in transfusion of sickle cell patients. Transfus Clin Biol, 2011. [Citation] [RHeference]
- Brajovich ME et al. Comprehensive analysis of RHD alleles in Argentineans with variant D phenotypes. Transfusion, 2012. [Citation] [RHeference]
- von Zabern I et al. D category IV: a group of clinically relevant and phylogenetically diverse partial D. Transfusion, 2013. [Citation] [RHeference]
- Granier T et al. A comprehensive survey of both RHD and RHCE allele frequencies in sub-Saharan Africa. Transfusion, 2013. [Citation] [RHeference]
- Chou ST et al. High prevalence of red blood cell alloimmunization in sickle cell disease despite transfusion from Rh-matched minority donors. Blood, 2013. [Citation] [RHeference]
- Reid ME et al. Genomic analyses of RH alleles to improve transfusion therapy in patients with sickle cell disease. Blood Cells Mol Dis, 2014. [Citation] [RHeference]
- Wagner FF et al. The Rhesus Site. Transfus Med Hemother, 2014. [Citation] [RHeference]
- A C Gaspardi et al. RHD variants in blood donors from Southeast Brazil. Transfusion, 2015. — Abstract — [RHeference]
- Sippert E et al. Variant RH alleles and Rh immunisation in patients with sickle cell disease. Blood Transfus, 2015. [Citation] [RHeference]
- Ipe TS et al. Severe hemolytic transfusion reaction due to anti-D in a D+ patient with sickle cell disease. J Pediatr Hematol Oncol, 2015. [Citation] [RHeference]
- Clarke G et al. Resolving variable maternal D typing using serology and genotyping in selected prenatal patients. Transfusion, 2016. [Citation] [RHeference]
- Srivastava K et al. The DAU cluster: a comparative analysis of 18 RHD alleles, some forming partial D antigens. Transfusion, 2016. [Citation] [RHeference]
- Chou ST et al. Application of genomics for transfusion therapy in sickle cell anemia. Blood Cells Mol Dis, 2017. [Citation] [RHeference]
- S Vege et al. RHD Genotyping of Discrepant or Weak D Samples: Over a Year’s Experience. Transfusion, 2017. — Abstract — [RHeference]
- Floch A et al. Comment from Rheference Online ressource, 2020. — Online ressource — [RHeference]
- Stef M et al. RH genotyping by nonspecific quantitative next-generation sequencing. Transfusion, 2020. [Citation] [RHeference]
- Vege S et al. Impact of RHD genotyping on transfusion practice in Denmark and the United States and identification of novel RHD alleles. Transfusion, 2021. [Citation] [RHeference]
Last update: Jan. 8, 2021