RHD*10.00 - RHD*DAU0
(ISBT table: RHD partial D v5.0)
This entry is an RHD allele.
DAU-0, RHD(T379M), RHD*1136C>T, RHD*1136T, RHD*1136T (DAU0),
Molecular data
Nucleotides:
1136C>T;
Amino acids: T379M;
Hybrid allele encompassing at least one RHCE exon:
no
Comments on the molecular basis:
- additional intronic IVS2+36A>G mutation in one sample heterozygous for RHef00008 and RHef00442; additional 3'UTR mutation Exon 10 +1377G>A mutation in one sample heterozygous for RHef00008 and RHef00442
- Table 4; intronic mutations predicted to be specific for this allele
Extracellular position of one or more amino acid substitutions:
Splicing:
Unconventional prediction methods:
Phenotype
Main D phenotype: D positive (last update: Nov. 11, 2019)Reports by D phenotype
Other RH phenotypes: RH:-2, -3, -19, -31,
Serology with monoclonal anti-D
Antigen Density (Ag/RBC)
More phenotype data
Haplotype
Main CcEe phenotype association: ce (last update: Aug. 15, 2020)ce | Ce | cE | CE | |
---|---|---|---|---|
ce | 29 | 0 | 1 | 0 |
Ce | 0 | 0 | 0 | |
cE | 0 | 0 | ||
CE | 0 |
Reports by CcEe phenotype
Reports by allele association
- RHCE*ce48C,712G,787G,800A (RHCE*ceEK)
- RHCE*ce48C,667T (RHCE*ceMO) or RHCE*ce48C,712G,787G,800A (RHCE*ceEK)
- RHCE*01
- RHCE*ceMO
- RHCE*03
- RHCE*01.01
- RHCE*ceAG
- RHCE*ce48C
- RHCE*ce733G or RHCE*01
- RHCE*ce733G or RHCE*ce48C
- RHCE*ceHAR or RHCE*ce48C
- RHCE*02 or RHCE*ce48C
- RHCE*cE602
- RHCE*01 or RHCE*01.01
- RHCE*ceMO or RHCE*03
- RHCE*ceVS.01 or RHCE*ceVS.09
- RHCE*ce(712G,818C) or RHCE*ceMO
- RHCE*ce.01(307T) or RHCE*ce.01
- RHCE*ce.01(105T) or RHCE*ceTI
- RHCE*ceJAL or RHCE*ceSM
Alloimmunization
Antibodies in carriers
Antibody specificity: D (RH1)
Summary: maybe allo-anti-D? (last update: April 29, 2020)Detailed information
-
Noizat-Pirenne F et al. Transfus Clin Biol (2011)
- Ab specificity: D (RH1)
- Number (auto- or allo-): 2
- 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: ND
- Cross matches (with Ab and RBCs from different partial types): ND
- Transfusion history: ND, probable
- Pregnancy history:
- Anti-D Ig history: ND
- Context: among 17 SCD patients with anti-D
- Hemolytic consequences:
- Comment:
-
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-: 3 (2 samples heterozygous with RHef00442, 1 sample heterozygous with RHef00020)
- 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: none 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
-
Westhoff CM et al. Transfusion (2013)
- Ab specificity: D (RH1)
- Number (auto- or allo-):
- Number listed as allo-: 1 (listed as allo-anti-D, patient heterozygous for RHef00442 and RHef00008)
- 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: among 27 patients referred with different RH alloantibodies, who were found to have RHCE*ceMO allele
- Hemolytic consequences:
- Comment:
-
Westhoff CM et al. Transfusion (2007)
(Table 3)
- 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: 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:
-
Chou ST et al. Blood (2013)
(Patient ID 50)
- Ab specificity: D (RH1)
- Number (auto- or allo-): 1 (patient heterozygous with RHef00019)
- 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: 91 RBC exposures
- Pregnancy history:
- Anti-D Ig history: ND, probably none
- Context: SCD child
- Hemolytic consequences: delayed hemolytic transfusion reaction
- Comment: Anti-D not detectable after 1 month
-
Chou ST et al. Blood (2013)
(Patient ID 34)
- 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: none
- Cross matches (with Ab and RBCs from different partial types): ND
- Transfusion history: 269 RBC exposures
- Pregnancy history:
- Anti-D Ig history: ND, probably none
- Context: SCD child
- Hemolytic consequences: delayed hemolytic transfusion reaction
- Comment: Anti-D not detectable after 3 months
-
Chou ST et al. Blood (2013)
(Patient ID 214)
- Ab specificity: D (RH1)
- Number (auto- or allo-): 1 (patient heterozygous with RHef00313)
- 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: anti-C
- Cross matches (with Ab and RBCs from different partial types): ND
- Transfusion history: 4 RBC exposures
- Pregnancy history:
- Anti-D Ig history: ND, probably none
- Context: SCD child
- Hemolytic consequences: unknown
- Comment:
-
O'Suoji C et al. Pediatr Blood Cancer (2013)
- Ab specificity: D (RH1)
- Number (auto- or allo-): 1 (unknown whether auto- or allo-)
- 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: warm autoantibody
- Cross matches (with Ab and RBCs from different partial types): ND
- Transfusion history: 125 C–,E–,K– RBC units over 4 years, chronic transfusion regimen
- Pregnancy history:
- Anti-D Ig history: ND, probably none
- Context: SCD patient
- Hemolytic consequences: unknown
- Comment: authors could not distinguish allo- or auto-Ab
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: April 28, 2020)Detailed reports
- 3/194 (+1 sample heterozygous with RHef00618) randoom Dccee donors screened for RHD c.1136>T in the German population (Southwestern Germany), assumed to be European
- 18/58 random donors carrying the allele (regardless of the allele in trans) Malian
- 5/500 500 donors with RH:1,–2,–3,4,5 phenotype among 1000 donors screened for RHD molecular variants by several PCR-SSP and exon 5 sequencing of all samples (500 R0r, 250 R1R, 250 R2r) in the German population (southwestern Germany)
- 1/55 55 discrepant or weak D phenotypes among 33864 multiethnic patients (of African, Asian, Indoasian and European extraction) in the Canadian (Toronto) population
- 3/310 (heterozygous with DIIIa or DIII type 6 RHef00753) among 1702 samples tested for the combined presence of RHD c.602G and c.667G (700 Dutch White, 310 South African Black, 319 South African Asians, 197 Curacao Black, 176 Ethiopian Black) South African (Black)
- 2/289 289 samples with ambiguous D phenotype (333 consecutive samples with ambiguous D phenotype studied but 44 were hybrid alleles, excluded from the study) in the French (Western France) population
- 1/21 21 samples referred for anti-D in a D positive individual African American or Hispanic, in the USA population (Table 3)
- 3/10 (1 heterozygous with Rhef00317, 1 with RHef00447) individuals with D positive phenotype Bantu, subgroup Teke, Boma from villages in the north of Léfini river
- 5 or 6/10 (5 heterozygous with RHef00442, 1 sample could be RHef00442 in trans to RHef00020 or RHef00093 in trans to RHef00008) individuals with D positive phenotype Bantu, subgroup Teke, Nziku from villages in the south of Gamboma city
- 3/10 individuals with D positive phenotype Bantu, subgroup Teke, Wumu from villages in the south of Ngabé city
- 6/10 (5 heterozygous with RHef00442, 1 with RHef00316) individuals with D positive phenotype Bantu, subgroup Teke, Kukuya from villages around Djambala city
- 1/163 selected variants included for the development of a genotyping assay mainly in the Dutch population (samples may have been included in other studies)
- 1 sample SCD patients with Ab in the USA population (Illinois)
- 74 alleles in 226 patients SCD children systematically genotyped in an alloimmunization study in the USA population (Philadelphia)
- 108/350 donors and patiens with SCD African American
- 44/50 (11 homozygous, the rest heterozygous) among 50 donors, the majority referred because of ambiguous RH5 antigen typing, found to have RHCE*ceMO (44 with RHef00008, 6 with RHef00442) in the USA population
- 25/27 among 27 patients referred with different RH alloantibodies, who were found to have RHCE*ceMO allele African American
- 5/316 (heterozygous with RHef00018) 316 (280 D positive and 36 D negative) donors were genotyped African descent (FY:-1,-2) in the French population
- 78/220 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
- 16/127 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
- 2/360 donors with atypical D phenotype (discrepancies or reactivity weaker than 3+) Brazilian
- 4/48 (2 samples heterozygous with RHef00442, 1 with RHef00020, 1 with RHef00452) among 48 SCD patients with RH antibodies despite antigen-matched transfusion protocols African Brazilian
- 2/67 (1 heterozygous with RHef00442 and 1 with RHef00046) among 405 random donor samples used to evaluate RHD zygosity tests (35 typed D negative, 303 typed D positive, 67 of the latter had discordant results with different methods and were sequenced) in the Tunisian population
- 1/23 donors with weak D phenotype (among 4458 random donors, 4028 types D positive including 19 weak D phenotype, 420 typed D negative including 4 showed to be weak D by further serological testing; in total 23 donors had weak D phenotype) in the Maroccan population
- 1/94 donors with discreapancies in D typing Southeast Brazil
- 7 heterozygotes 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
- 1/3159 (CI: 1/1170 - 1/11587) estimated allele frequency in the German population
- 0.172 estimated haplotype frequency Malian
- 1/6024 (CI: 1/2695 - 1/15291) estimated population frequency among 1000 donors screened for RHD molecular variants by several PCR-SSP and exon 5 sequencing of all samples (500 R0r, 250 R1R, 250 R2r) in the German population (southwestern Germany)
- 0.154 allele frequency African American
- 0.158 allele frequency among 480 African American donors African American (in the USA population)
- 0.171 allele frequency among 140 SCD patients African American (in the USA population)
- 0.217 - 0.247 allele frequency from molecular typing of 101 random samples Dogon Malian
- 0.076 allele frequency from molecular typing of 46 random samples Fulani Malian
Structure mapping
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References
- National Center for Biotechnology Information et al. Data from Genbank submission Online ressource, 1982. — Online ressource — [RHeference]
- Wagner FF et al. The DAU allele cluster of the RHD gene. Blood, 2002. [Citation] [RHeference]
- Wagner FF et al. RHD allele distribution in Africans of Mali. BMC Genet, 2003. [Citation] [RHeference]
- Chen Q et al. Random survey for RHD alleles among D+ European persons. Transfusion, 2005. [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]
- 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]
- Westhoff CM et al. Rh complexities: serology and DNA genotyping. Transfusion, 2007. [Citation] [RHeference]
- Le Maréchal C et al. Identification of 12 novel RHD alleles in western France by denaturing high-performance liquid chromatography analysis. Transfusion, 2007. [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]
- Touinssi M et al. Molecular analysis of inactive and active RHD alleles in native Congolese cohorts. 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]
- O'Suoji C et al. Alloimmunization in sickle cell anemia in the era of extended red cell typing. Pediatr Blood Cancer, 2013. [Citation] [RHeference]
- Westhoff CM et al. RHCE*ceMO is frequently in cis to RHD*DAU0 and encodes a hr(S) -, hr(B) -, RH:-61 phenotype in black persons: clinical significance. Transfusion, 2013. [Citation] [RHeference]
- Reid ME et al. The low-prevalence Rh antigen STEM (RH49) is encoded by two different RHCE*ce818T alleles that are often in cis to RHD*DOL. 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]
- 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]
- Kappler-Gratias S et al. Systematic RH genotyping and variant identification in French donors of African origin. Blood Transfus, 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]
- Arnoni CP et al. How do we identify RHD variants using a practical molecular approach? Transfusion, 2014. [Citation] [RHeference]
- Ba A et al. RH diversity in Mali: characterization of a new haplotype RHD*DIVa/RHCE*ceTI(D2). Transfusion, 2015. [Citation] [RHeference]
- Kacem N et al. Paternal RHD zygosity determination in Tunisians: evaluation of three molecular tests. Blood Transfus, 2015. [Citation] [RHeference]
- Sippert E et al. Variant RH alleles and Rh immunisation in patients with sickle cell disease. Blood Transfus, 2015. [Citation] [RHeference]
- A C Gaspardi et al. RHD variants in blood donors from Southeast Brazil. Transfusion, 2015. — Abstract — [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. Whole-exome sequencing for RH genotyping and alloimmunization risk in children with sickle cell anemia. Blood Adv, 2017. [Citation] [RHeference]
- Tounsi WA et al. Complete RHD next-generation sequencing: establishment of reference RHD alleles. Blood Adv, 2018. [Citation] [RHeference]
- El Housse H et al. Comprehensive phenotypic and molecular investigation of RhD and RhCE variants in Moroccan blood donors. Blood Transfus, 2019. [Citation] [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