RHD genotyping is recommended for all patients with serological weak-D phenotypes in Asian populations – Cases with coexistence of weak-D and Asia type DEL alleles results in complete expression of D-antigen

Chun, Sejong; Kim, Hyungsuk; Yun, Jae Won; Yu, HongBi; Seo, Ji Young; Cho, Duck

doi:10.1016/j.transci.2020.102807

Cited by 5 publications

(12 citation statements)

References 9 publications

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“…The strategy is basically based on RHD genotyping by various approaches, including in-house realtime PCR, direct sequencing or commercial kits, and may be combined with a prior selection of the C/E+ samples by serological Rh CcEe typing. 27,35,36 On the basis of our findings showing that the molecular distribution of non-D+ variant alleles, including the the Asian DEL allele, is globally similar to what reported in other Asian countries so far, we propose that the diagnostic strategy to be used in Thailand in blood donors and patients should be simply adapted from those implemented in these countries. An economical assessment of the global strategy is now to be carried out by taking into considerations 1) the number of RBC units collected per year in Thailand, 2) the choice of the technical method for RHD genotyping, and 3) the inclusion of Rh CcEe typing for sample selection.…”

Section: Diagnostics Of Non-d+ Thai Blood Donorssupporting

confidence: 68%

“…From a diagnostic point‐of‐view, the identification of Asian DEL carriers in serologically D‐ individuals has been addressed in Asia. The strategy is basically based on RHD genotyping by various approaches, including in‐house real‐time PCR, direct sequencing or commercial kits, and may be combined with a prior selection of the C/E+ samples by serological Rh CcEe typing 27,35,36 . On the basis of our findings showing that the molecular distribution of non‐D+ variant alleles, including the the Asian DEL allele, is globally similar to what reported in other Asian countries so far, we propose that the diagnostic strategy to be used in Thailand in blood donors and patients should be simply adapted from those implemented in these countries.…”

Section: Discussionmentioning

confidence: 63%

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Nation‐wide investigation ofRHDvariants in Thai blood donors: Impact for molecular diagnostics

et al. 2020

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Background: Knowledge of the molecular determinants driving antigen expression is critical to design, optimize, and implement a genotyping approach on a population-specific basis. Although RHD gene variability has been extensively reported in Caucasians, Africans, and East-Asians, it remains to be explored in Southeast Asia. Thus the molecular basis of non-D+ blood donors was investigated in Thailand. Study Design and Methods: First, 1176 blood samples exhibiting an inconclusive or negative result by automated serological testing were collected in the 12 Regional Blood Centres of the Thai Red Cross located throughout Thailand. Second, the RHD gene was analyzed in all samples by 1) quantitative multiplex PCR of short fluorescent fragments, and 2) direct sequencing, when necessary, for identifying structural variants and single nucleotide variants, respectively. Results: Additional serological typing yielded 51 and 1125 samples with weak/partial D and D-negative (D-) phenotype, respectively. In the first subset, partial RHD*06.03 was the most common variant allele (allele frequency: 18.6%). In the second subset, the whole deletion of the gene is largely the most frequent (allele frequency: 84.9%), followed by the Asian DEL allele found in 15.6% of the samples. Eight novel alleles with various mutational mechanisms were identified. Conclusion: We report, for the first time at the national level, the molecular basis of weak/partial D and serologically D-phenotypes in Thai blood donors. The design and implementation of a dedicated diagnostic strategy in blood donors and patients are the very next steps for optimizing the management and supply of RBC units in Thailand.

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Section: Diagnostics Of Non-d+ Thai Blood Donorssupporting

confidence: 68%

Section: Discussionmentioning

confidence: 63%

Nation‐wide investigation ofRHDvariants in Thai blood donors: Impact for molecular diagnostics

et al. 2020

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“…Individuals with an RhD-negative phenotype are rare in East Asia, accounting for 0.50% of Japanese [6], 0.27% of Chinese in Hong Kong [7], 0.34% of Taiwanese [8], and 0.24% of Koreans [9], versus 15%-17%…”

Section: Discussionmentioning

confidence: 99%

A practical and effective strategy in East Asia to prevent anti‐D alloimmunization in patients by C/c phenotyping of serologic RhD‐negative blood donors

Ohto

Ogiyama

et al. 2021

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Serologic RhD-negative red cells can cause anti-D alloimmunization if they carry theAsian-type DEL or other DEL variants. RHD genotyping is a viable countermeasure if available, but inexpensive alternatives are worthy of consideration. RhD-negative blood donors in Japan were studied by anti-D adsorption-elution and RHD genotyping.We collated published case reports of RhD-negative red cell transfusions associated with inexplicable anti-D immunization. Of 2754 serologic RhD-negative donors, 378 were genotyped D/d. Anti-D adsorption-elution revealed 63.5% (240 of 378) to be DEL, of whom 96.7% (232 of 240) had the 1227G > A variant, diagnostic for the Asian-type DEL. All 240 donors also carried at least one C antigen; none had a cc phenotype. The chance of transfusing DEL red cells to genuinely RhD-negative Asian patients (based on a three-unit transfusion) ranges from 16.7% in Korea to 69.4% in Taiwan, versus 0.6% in Germany. Among 22 RhD-negative recipients of serologic RhD-negative red cells, who produced new or increased anti-D antibody titers, all 17 from East Asia were transfused with red cells with a C-positive phenotype or known to be Asian-type DEL or both. Serologic RhD-negative East Asians with a cc phenotype can be red cell donors for RhD-negative recipients, especially those of childbearing potential.

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“…Therefore, RHD genotyping is the gold standard for detecting DEL ( Nuchnoi et al, 2014 ). The RHD (c.1227G>A) should be managed as D-positive for RhIG administration or selection of blood components for transfusion ( Chun et al, 2020 ). In 2015, a study revealed that erythrocytes carrying the 1227A mutation might express very low “normal” D antigen levels ( Fichou et al, 2015 ).…”

Section: Discussionmentioning

confidence: 99%

“…According to the guideline ( Flegel et al, 2020 ), both should be managed as D¯ and given RhIG for D immunoprophylaxis. More interesting, a recent study showed that weak-D and Asia-type DEL alleles’ coexistence would completely express the D-antigen ( Chun et al, 2020 ), which means free from RhIG administration.…”

Section: Discussionmentioning

confidence: 99%

RHD Genotypes in a Chinese Cohort of Pregnant Women

et al. 2021

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RHD variants in D¯ Chinese pregnant women arose difficulties in management during pregnancy. Therefore, this study aims to precisely manage D¯ pregnant women by evaluating the spectrum of RHD mutations in D¯ pregnant women and getting insight into the possible rare alleles of RHD. A total of 76 D¯ pregnant women were analyzed by performing polymerase chain reactions with sequence-specific primers (PCR-SSP), the 10 RHD exons Sanger sequencing, RHD zygosity detection, and mRNA sequencing (mRNA-seq). About 40% of alleles are variations of RHD, including RHD 1227A homozygous, RHD-CE(2-9)-D, et al. Therefore, we developed a molecular diagnostic strategy for Chinese women, and most D¯ pregnant women can be diagnosed with this simple decision tree. After RHD genotyping for D¯ pregnancy women, we eliminated at least 15% unnecessary ante- and postpartum injections of Rh immunoglobulin (RhIG). As the first pedigree study and the first functional analysis under physiological conditions, mRNA-seq revealed that c.336-1G>A mutation mainly led to the inclusion of the intron 2, which indirectly explained the D¯ phenotype in this family. We also developed a robust protocol for determining fetal RhD status from maternal plasma. All 31 fetuses were predicted as RhD positive and confirmed the RhD status after birth.

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RHD genotyping is recommended for all patients with serological weak-D phenotypes in Asian populations – Cases with coexistence of weak-D and Asia type DEL alleles results in complete expression of D-antigen

Cited by 5 publications

References 9 publications

Nation‐wide investigation ofRHDvariants in Thai blood donors: Impact for molecular diagnostics

Nation‐wide investigation ofRHDvariants in Thai blood donors: Impact for molecular diagnostics

A practical and effective strategy in East Asia to prevent anti‐D alloimmunization in patients by C/c phenotyping of serologic RhD‐negative blood donors

RHD Genotypes in a Chinese Cohort of Pregnant Women

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