<i>RHCE*ceAG</i> (254C&gt;G, Ala85Gly) is prevalent in blacks, encodes a partial ce‐phenotype, and is associated with discordant <i>RHD</i> zygosity

Westhoff, Connie M.; Vege, Sunitha; Hipsky, Christine Halter; Horn, Trina; Hue‐Roye, Kim; Keller, Jessica; Velliquette, Randall W.; Lomas‐Francis, Christine; Chou, Stella T.; Reid, Marion E.

doi:10.1111/trf.13225

Cited by 15 publications

(14 citation statements)

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“…For Rh discrepancies, samples were also tested with research use only (RUO) RHCE and RHD BeadChip (BioArray/Immucor). PCR‐RFLP assays were performed to detect RHCE*CeRN , *cE907delC , and *ce254G . Exon‐specific amplification and sequencing was performed for Rh and other system discrepancies that remained unresolved.…”

Section: Methodsmentioning

confidence: 99%

Reliability of labeling red cell units with minor antigen historical results and process considerations

et al. 2020

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BACKGROUND Several approaches are used by blood centers when providing minor (non‐ABO/D) antigen‐negative RBCs to hospitals. Details vary but include providing results on the unit labeling intended for clinical use without retyping or providing results on packing documents or via computer query requiring confirmation. Recent regulatory changes allow labeling with historical minor antigen results, defined as previously performed by the donor center on two different donations with results linked to the donor and confirmed concordant. Here we investigate causes of discrepancies and identify critical process steps. STUDY DESIGN AND METHODS Nine years (2009‐2017) of data were reviewed for number, antigen system, and root cause of discrepancies flagged by the computer when retyping donors prior to labeling (internal discrepancies) or reported by the hospital when retested (external discrepancies). Licensed automated (CcEeK) and tube methods were used. RESULTS Among 300,000 samples phenotyped for CcEe, K, Fya/b, Jka/b, Ss (>3 million antigens), ∼1,389,960 were repeated on 2nd donation with 397 (1/3501) discordant; 205 Fy, 118 Rh, and 74 others. Of ∼682,691 antigen‐negative phenotypes provided on unit labeling, ∼37.5% (256,118) were retyped by hospitals with 29 discrepancies (1/8832), primarily Rh variants. CONCLUSION When repeating minor antigen types by serology, discrepancies are primarily associated with weak Fyb, among Caucasian donors, and weak/partial Rh antigens in donors of African ancestry. DNA‐based testing avoids these. To label with historical results, accuracy is increased by automated testing with direct computer interface. Testing on two donations with results confirmed to be concordant is not inferior to testing on the current donation.

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Section: Methodsmentioning

confidence: 99%

Reliability of labeling red cell units with minor antigen historical results and process considerations

et al. 2020

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“…5,12 Briefly, the DNA array targets 35 RHD and 25 RHCE single nucleotide changes or insertions. PCR-restriction fragment length polymorphism-based analysis was performed for RHD exon 8 (c.1136C.T) and RHCE exon 2 (c.254C.G), exon 4 (c.577A.G), and exon 6 (c.907 del C).…”

Section: Methodsmentioning

confidence: 99%

Whole-exome sequencing for RH genotyping and alloimmunization risk in children with sickle cell anemia

et al. 2017

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Key Points• WES can be applied for precise RH genotyping, detection of new or uncommon variants, and determination of RHD zygosity.• An altered RH genotype is a risk factor for Rh alloimmunization in patients with sickle cell anemia.RH genes are highly polymorphic and encode the most complex of the 35 human blood group systems. This genetic diversity contributes to Rh alloimmunization in patients with sickle cell anemia (SCA) and is not avoided by serologic Rh-matched red cell transfusions.

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“…Zygosity testing for the RHD gene was done by quantitative fluorescence polymerase chain reaction (PCR) using RHD Intron 4 and RHCE Exon 7 (two‐copy internal control) as described previously . For screening of the RHCE gene, characteristic SNPs were determined (RHCE BeadChip Kit, BioArray Solutions), which cannot detect RHCE*ceAG recently described in African Americans . Nucleotide sequences were aligned and compared to reference sequences as described previously …”

Section: Methodsmentioning

confidence: 99%

“…30 For screening of the RHCE gene, characteristic SNPs were determined (RHCE BeadChip Kit, BioArray Solutions), 31 which cannot detect RHCE*ceAG recently described in African Americans. 32 Nucleotide sequences were aligned and compared to reference sequences as described previously. 33 When sequencing of RHD Exons 5 or 6 or both failed in five samples-there was no amplification because of presumably low DNA quality-we were, however, able to confirm the positions 602 (T201R) and 667 (F223V) by PCR with sequence-specific priming 12,18 and assigned weak D Type 4.0: No possible alternative RHD allele was known for two samples, while weak D Type 4.3, weak D Type 4.0.1, and RHD(T201R,F223V,G307R) 3 could not be ruled out in three samples; such alleles that are rare in Caucasians have never been observed in Tunisia.…”

Section: Rbc Genotypingmentioning

confidence: 99%

Transfusion strategy for weak D Type 4.0 based on RHD alleles and RH haplotypes in Tunisia

et al. 2017

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Background With more than 460 RHD alleles, this gene is the most complex and polymorphic among all blood group systems. The Tunisian population has the largest known prevalence of weak D type 4.0 alleles, occurring in 1 of 105 RH haplotypes. We aimed to establish a rationale for the transfusion strategy of weak D type 4.0 in Tunisia. Study design and methods Donors were randomly screened for the serological weak D phenotype. The RHD coding sequence and parts of the introns were sequenced. To establish the RH haplotype, the RHCE gene was tested for characteristic single nucleotide positions. Results We determined all RHD alleles and the RH haplotypes coding for the serologic weak D phenotype among 13,431 Tunisian donations. A serologic weak D phenotype was found in 67 individuals (0.50%). Among them, 60 carried a weak D type 4 allele: 53 weak D type 4.0, 6 weak D type 4.2.2 (DAR), and 1 weak D type 4.1. Another 4 donors had 1 variant allele each: DVII, weak D type 1, weak D type 3, and weak D type 100, while 3 donors showed a normal RHD sequence. The weak D type 4.0 was most often linked to RHCE*ceVS.04.01, weak D type 4.2.2 to RHCE*ceAR, and weak D type 4.1 to RHCE*ceVS.02, while the other RHD alleles were linked to one of the common RHCE alleles. Conclusions Among the weak D phenotypes in Tunisia, no novel RHD allele was found and almost 90% were caused by alleles of the weak D type 4 cluster, of which 88% represented the weak D type 4.0 allele. Based on established RH haplotypes for variant RHD and RHCE alleles and the lack of adverse clinical reports, we recommend D positive transfusions for patients with weak D type 4.0 in Tunisia.

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RHCEceAG* (254C>G, Ala85Gly) is prevalent in blacks, encodes a partial ce‐phenotype, and is associated with discordant RHD zygosity

Cited by 15 publications

References 20 publications

Reliability of labeling red cell units with minor antigen historical results and process considerations

Reliability of labeling red cell units with minor antigen historical results and process considerations

Whole-exome sequencing for RH genotyping and alloimmunization risk in children with sickle cell anemia

Transfusion strategy for weak D Type 4.0 based on RHD alleles and RH haplotypes in Tunisia

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RHCE*ceAG (254C>G, Ala85Gly) is prevalent in blacks, encodes a partial ce‐phenotype, and is associated with discordant RHD zygosity

Cited by 15 publications

References 20 publications

Reliability of labeling red cell units with minor antigen historical results and process considerations

Reliability of labeling red cell units with minor antigen historical results and process considerations

Whole-exome sequencing for RH genotyping and alloimmunization risk in children with sickle cell anemia

Transfusion strategy for weak D Type 4.0 based on RHD alleles and RH haplotypes in Tunisia

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RHCEceAG* (254C>G, Ala85Gly) is prevalent in blacks, encodes a partial ce‐phenotype, and is associated with discordant RHD zygosity