partly characterized RHD*09.01 (weak D type 4.2 or DAR) (partly characterized or subtypes not separated)
(ISBT table: not listed)
This entry is partly characterized.
weak D type 4.2.x (DAR) - partly characterized or subtypes not separated,
Molecular data
Nucleotides:
Amino acids:
Hybrid allele encompassing at least one RHCE exon:
NA
Comments on the molecular basis:
- subtypes not separated
- allele described as: T201R,F223V,I342T
- allele described as 602C>G,1025T>C only
- not RHef00317 nor RHef00318 which were sperated
- subtypes not separated
- subtypes not separated
- listed as "DAR", given the references cited, RHef00003, RHef00316 and RHef00317 do not seem to have been separated
- gDNA was fully sequenced for 1 sample only, other subtypes have not been excluded for the other samples
- "A mutation in codon 223 but not codon 233 is indicative of DIIIa, DOL, and DAR phenotypes (…) A mutation in codon 152 differentiates DIIIa from DOL and DAR phenotypes."
- proband was heterozyguous for RHef00602 and RHef00057; RNA analysis was performed
- RHef00003 and/or RHef00316
- RHef00317 and/or RHef00318
Extracellular position of one or more amino acid substitutions:
Splicing:
Unconventional prediction methods:
Phenotype
Main D phenotype: weak D (last update: Dec. 28, 2020)Reports by D phenotype
- Undetailed ambiguous D phenotype
- Proband reported as D positive was heterozyguous for RHef00602 and RHef00057
- Discrepant D phenotype (negative or positive depending on anti-D reagents and techniques)
- Proband reported as D positive was heterozyguous for RHef00602 and RHef00057
- Weak D phenotype
- Proband reported as D positive was heterozyguous for RHef00602 and RHef00057
- D negative
- Proband reported as D positive was heterozyguous for RHef00602 and RHef00057
Other RH phenotypes: RH:-54,
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 | 77 | 9 | 0 | 0 |
Ce | 3 | 0 | 0 | |
cE | 0 | 0 | ||
CE | 0 |
Reports by CcEe phenotype
- with Ccee 1 sample
- with ce 5 samples (haplotype given, not complete phenotype)
- with Ce 3 samples
8 samples
6 samples
29 samples
4 samples
1 sample (haplotype given, not complete phenotype)
32 samples
0 samples (Table 2; no sample count, presented as a general association) (haplotype listed, not complete phenotype; presented as a general association) (Figure 2; presented as a general association, no sample count)
Reports by allele association
Alloimmunization
Antibodies in carriers
Antibody specificity: D (RH1)
Summary: not relevant, see types or alleles (last update: Dec. 28, 2020)Detailed information
-
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:
- Autologuous control:
- Elution:
- Autoadsorption:
- Titer:
- Was anti-LW excluded?:
- Other antibodies detected:
- Cross matches (with Ab and RBCs from different partial types):
- Transfusion history:
- Pregnancy history:
- Anti-D Ig history:
- Context:
- Hemolytic consequences:
- Comment: lists exposures to standard D antigen and patient blood management for several carriers
-
Sippert E et al. Blood Transfus (2015)
- Ab specificity: D (RH1)
- Number (auto- or allo-):
- Number listed as allo-: 5
- 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
-
Flegel WA et al. Curr Opin Hematol (2006)
(some samples overlap with other reports)
- Ab specificity: D (RH1)
- Number (auto- or allo-):
- Number listed as allo-: 1
- Number listed as auto-: 1
- Number of carriers of the allele assessed: 2
- 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: ND
- Pregnancy history:
- Anti-D Ig history: ND, probably none
- Context: ND
- Hemolytic consequences: ND
- Comment: "reports of the Rhesus Immunization Registery as of June 2006"
Wagner FF et al. Transfus Med Hemother (2014)
-
Westhoff CM et al. Transfusion (2007)
(Table 3)
- Ab specificity: D (RH1)
- Number (auto- or allo-): 4 (including 1 heterozygous with RHef0018)
- Number listed as allo-:
- Number listed as auto-:
- Number of carriers of the allele assessed: ND
- 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: ND
- Pregnancy history:
- Anti-D Ig history: ND
- Context: ND
- Hemolytic consequences: none
- Comment:
-
Daniels G et al. Br J Haematol (2013)
(review)
- Ab specificity: D (RH1)
- Number (auto- or allo-):
- Number listed as allo-: no new case detailed (listed as allo-anti-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: one of the 2 most common D variants associated with alloanti-D production in individuals of African descent
-
O'Suoji C et al. Pediatr Blood Cancer (2013)
- Ab specificity: D (RH1)
- Number (auto- or allo-): 1
- Number listed as allo-:
- Number listed as auto-:
- Number of carriers of the allele assessed: ND
- DAT: ND
- Autologuous control: ND
- Elution: ND
- Autoadsorption: ND
- Titer: ND
- Was anti-LW excluded?: ND
- Other antibodies detected: anti-MNS1, anti-Bg
- Cross matches (with Ab and RBCs from different partial types): ND
- Transfusion history: 6 C–,E–,K– RBC units
- Pregnancy history:
- Anti-D Ig history: NA
- Context: SCD child
- Hemolytic consequences: unknown
- Comment:
-
Noizat-Pirenne F et al. Blood (2002)
- Ab specificity: D (RH1)
- Number (auto- or allo-): 3
- Number listed as allo-:
- Number listed as auto-:
- Number of carriers of the allele assessed:
- DAT:
- Autologuous control:
- Elution:
- Autoadsorption: not autoadsorbable
- Titer:
- Was anti-LW excluded?:
- Other antibodies detected:
- Cross matches (with Ab and RBCs from different partial types):
- Transfusion history:
- Pregnancy history:
- Anti-D Ig history:
- Context: women immunized during pregnancies
- Hemolytic consequences:
- Comment:
-
Horn T et al. Vox Sanguinis (2012)
- 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: ND
- Autologuous control: ND
- Elution: ND
- Autoadsorption: ND
- Titer: ND
- Was anti-LW excluded?: "DTT treatment failed to alter the reactivity of the antibody"
- Other antibodies detected: history of anti-C, -E, and -S
- Cross matches (with Ab and RBCs from different partial types): ND
- Transfusion history: ND, probably yes
- Pregnancy history:
- Anti-D Ig history: ND, probably none
- Context: female with sickle cell anemia and thalassemia trait
- Hemolytic consequences: ND
- Comment: patient heterozyguous for RHef00602 and RHef00057 had a "possible anti-D"
Antibodies in D negative recipients
Alloimmunization in recipients: expected to be possible, see phenotype data
Reports
Summary: common allele, in individuals of African descent, or compatible with such descent (last update: Dec. 28, 2020)Detailed reports
- 6 samples French of Afro-Caribbean descent
- 7/55 (+ 1 heterozygous with RHef00017) 55 discrepant or weak D phenotypes among 33864 multiethnic patients (of African, Asian, Indoasian and European extraction) in the Canadian (Toronto) population
- 4/23 (including 1 heterozygous with RHef00018) 21 samples referred for anti-D in a D positive individual African American or Hispanic, in the USA population (Table 3)
- 1/101 donors with weak D phenotype Danish
- 1/110 (heterozygous with RHef00605) random individuals with D negative phenotype Congolese (from the city of Brazzaville)
- 1/10 (heterozygous with RHef00018) individuals with D positive phenotype Bantu, subgroup Teke, Kukuya from villages around Djambala city
- 7/141 donors and patients with ambiguous D phenotype in French population
- 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 (allele described as 602C>G,1025T>C only)
- 4/45 (prevalence among weak D phenotype) or 4/12672 (phenotypic prevalence in population) 45 patients with weak D phenotype were genotyped in a cohort of 12672 patients from a public hospital Argentinean (allele described as 602C>G,1025T>C only)
- 100/205 weak D phenotype African descent in the French population
- 5/16 among 2007 unrelated donors, 16 had weak D phenotype in the Brazilian population (Sao Paulo, mainly racially mixed non-white skin color individuals)
- 6/163 (including 1 heterozygous with RHef00452) selected variants included for the development of a genotyping assay mainly in the Dutch population (samples may have been included in other studies)
- 22/50 (15 donors and 7 patients) 50 samples (33 donors and 17 patients) with discrepant or weak D phenotyping in the Egyptian population
- 1 sample (heterozygous with RHef00447) SCD patients with Ab in the USA population (Illinois)
- 16/50 50 weak D phenotypes among 1113 initially D negative samples (25 samples were not resolved by the genotyping performed) in the Egyptian population
- 1 alleles in 226 patients SCD children systematically genotyped in an alloimmunization study in the USA population (Philadelphia)
- 15/220 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
- 26/127 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
- 5/48 among 48 SCD patients with RH antibodies despite antigen-matched transfusion protocols African Brazilian
- 6/627 weak D typing (95% from patients, 5% from donors; 21,2% were identified as RHef00442 or RHef00446 by authors, "mostly (…) inconclusive serology consequent to recent transfusion") in the Belgian (Flanders) population
- 3/298 pregnant D negative women who underwent non-invasive fetal RHD detection in the Argentinean population (Rosario)
- 5/400 among random blood and bone marrow donors genotyped for RHD in the Brazilian population (Parana state, Southern Brazil)
- 19/351 (1 htz with RHef00452 and 1 with RHef00238) out of 351 prenatal patients with discrepant D phenotyping results (population tested 608486 patients) (+ 1 heterozygous for RHef00238 and RHef00288) (+ 1 heterozygous for RHef00288 and RHef00313) Canadian
- 37/231 231 donors with weak D phenotype in the Argentinean population (Northwestern Argentina)
- 46/353 samples referred for discrepant or weak D typing in the USA population
- 1 sample (heterozygous with RHef00057) patient with sickle cell anemia and thaalassemia trait African American
- 17/94 donors with discreapancies in D typing Southeast Brazil
Allele or phenotype frequency
- "rare" estimated prevalence in the German population
- 0.0 allele frequency from molecular typing of 101 random samples Dogon Malian
- 0.0 allele frequency from molecular typing of 46 random samples Fulani Malian
- 0.184 allele frequency in 106 donors with weak D phenotype Brazilian (mixed origin, mainly between African and European descent)
- 0.274 allele frequency in 58 patients with weak D phenotype Brazilian (mixed origin, mainly between African and European descent)
Structure mapping
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References
- Avent ND et al. The rhesus blood group system: insights from recent advances in molecular biology. Transfus Med Rev, 1999. [Citation] [RHeference]
- Hemker MB et al. DAR, a new RhD variant involving exons 4, 5, and 7, often in linkage with ceAR, a new Rhce variant frequently found in African blacks. Blood, 1999. [Citation] [RHeference]
- Wagner FF et al. Weak D alleles express distinct phenotypes. Blood, 2000. [Citation] [RHeference]
- Flegel WA et al. Section 1B: Rh flow cytometry. Coordinator's report. Rhesus index and antigen density: an analysis of the reproducibility of flow cytometric determination. Transfus Clin Biol, 2002. [Citation] [RHeference]
- Wagner FF et al. The DAU allele cluster of the RHD gene. Blood, 2002. [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]
- Reid ME et al. DAK, a new low-incidence antigen in the Rh blood group system. Transfusion, 2003. [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]
- Flegel WA et al. How I manage donors and patients with a weak D phenotype. Curr Opin Hematol, 2006. [Citation] [RHeference]
- Araújo F et al. Weak D type 2 is the most prevalent weak D type in Portugal. Transfus Med, 2006. [Citation] [RHeference]
- Westhoff CM et al. Rh complexities: serology and DNA genotyping. Transfusion, 2007. [Citation] [RHeference]
- Christiansen M et al. Correlation between serology and genetics of weak D types in Denmark. Transfusion, 2008. [Citation] [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]
- Noizat-Pirenne F et al. Relevance of RH variants in transfusion of sickle cell patients. Transfus Clin Biol, 2011. [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]
- Rizzo C et al. Weak D and partial D: our experience in daily activity. Blood Transfus, 2012. [Citation] [RHeference]
- Brajovich ME et al. Comprehensive analysis of RHD alleles in Argentineans with variant D phenotypes. Transfusion, 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]
- Horn T et al. RHD*DIII.4 allele with additional nucleotide change 307 T>C Vox Sanguinis, 2012. — Abstract — [RHeference]
- Lejon Crottet S et al. Serologic and molecular investigations of DAR1 (weak D Type 4.2), DAR1.2, DAR1.3, DAR2 (DARE), and DARA. 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]
- Daniels G et al. Variants of RhD--current testing and clinical consequences. Br J Haematol, 2013. [Citation] [RHeference]
- Hussein E et al. Weak D types in the Egyptian population. Am J Clin Pathol, 2013. [Citation] [RHeference]
- Abdelrazik AM et al. Combining serology and molecular typing of weak D role in improving D typing strategy in Egypt. Transfusion, 2013. [Citation] [RHeference]
- Haer-Wigman L et al. RHD and RHCE variant and zygosity genotyping via multiplex ligation-dependent probe amplification. 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]
- O'Suoji C et al. Alloimmunization in sickle cell anemia in the era of extended red cell typing. Pediatr Blood Cancer, 2013. [Citation] [RHeference]
- Wagner FF et al. The Rhesus Site. Transfus Med Hemother, 2014. [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]
- A C Gaspardi et al. RHD variants in blood donors from Southeast Brazil. Transfusion, 2015. — Abstract — [RHeference]
- Ba A et al. RH diversity in Mali: characterization of a new haplotype RHD*DIVa/RHCE*ceTI(D2). Transfusion, 2015. [Citation] [RHeference]
- Sippert E et al. Variant RH alleles and Rh immunisation in patients with sickle cell disease. Blood Transfus, 2015. [Citation] [RHeference]
- Van Sandt VS et al. RHD variants in Flanders, Belgium. 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]
- Zacarias JM et al. Frequency of RHD variants in Brazilian blood donors from Parana State, Southern Brazil. Transfus Apher Sci, 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]
- Boggione CT et al. Genotyping approach for non-invasive foetal RHD detection in an admixed population. Blood Transfus, 2017. [Citation] [RHeference]
- S Vege et al. RHD Genotyping of Discrepant or Weak D Samples: Over a Year’s Experience. Transfusion, 2017. — Abstract — [RHeference]
- Chou ST et al. Whole-exome sequencing for RH genotyping and alloimmunization risk in children with sickle cell anemia. Blood Adv, 2017. [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]
- Trucco Boggione C et al. Characterization of RHD locus polymorphism in D negative and D variant donors from Northwestern Argentina. Transfusion, 2019. [Citation] [RHeference]
- Floch A et al. Comment from Rheference Online ressource, 2020. — Online ressource — [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. 1, 2021