High frequency of variant <i><scp>RHD</scp></i> genotypes among donors and patients of mixed origin with serologic weak‐D phenotype

Dezan, Marcia Regina; Oliveira, Vítor Hugo de; Gomes, Carolina; Luz, Fabio; Gallucci, A.; Bonifácio, Sílvia L.; Alencar, Cecília Salete; Sabino, Éster Cerdeira; Pereira, Alexandre C.; Krieger, José Eduardo; Rocha, Vanderson; Mendrone‐Júnior, Alfredo; Dinardo, Carla Luana

doi:10.1002/jcla.22596

Cited by 7 publications

(5 citation statements)

References 28 publications

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“…[8][9][10] It has been recently suggested that weak D types 1, 2, and 3 represent less than 30 percent of the serologic weak D phenotypes identified among Brazilians, who are intensely racially mixed. 11 Relatively high frequencies of weak D type 38 and weak D type 11 in this population were also shown, 11,12 which is an interesting finding, since these variants are infrequent among white individuals and not reported among people of African ancestry.…”

supporting

confidence: 60%

“…The higher-than-expected prevalence of weak D type 38 among Brazilians has been previously suggested by some studies, which focused their analyses on samples with low expression of D. 11,12,20,21 The frequency of this D variant significantly differed from that previously calculated for individuals of European descent. 22 In fact, in some large cohorts of European individuals screened for weak D phenotype, this variant was not encountered.…”

Section: Discussionmentioning

confidence: 70%

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Weak D types 38 and 11: determination of frequencies in a Brazilian population and validation of an easy molecular assay for detection

et al. 2020

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Recent evidence shows that, among Brazilians, the distribution of weak D types significantly differs from that represented in people of European descent, with a high percentage of weak D types 38 and 11. Our goal was to determine the population frequencies of weak D types 38 and 11 in a Brazilian population and to validate a molecular approach to identify these two variants. Blood donors were sequentially enrolled in the study in a 5-year period. Donors with serologic weak D phenotype had the RHD coding region sequenced. The frequencies of weak D type 38 and weak D type 11 (CDe-associated) were calculated. Two allele-specificpolymerase chain reaction (AS-PCR) assays were designed to detect RHD*weak D type 38 and RHD*weak partial 11 and were validated with samples positive and negative for these two variants, respectively. A total of 618,542 donors were enrolled, of which 265 presented with a serologic weak D phenotype. When considering all donors evaluated, the frequencies of weak D types 38 and 11 were 0.013 and 0.002 percent, respectively. In the subgroup of donors with a serologic weak D phenotype, the frequencies of weak D types 38 and 11 were 30.2 and 4.9 percent, respectively. The two proposed AS-PCR assays for detection of RHD*weak D type 38 and RHD*weak partial 11 showed 100 percent accuracy. The frequencies of weak D types 38 and 11 among Brazilians are high compared to that previously described for other populations. The AS-PCR assays to detect RHD*weak D type 38 and RHD*weak partial 11 represent potentially helpful tools for investigating Brazilian individuals with these weak D phenotypes. Immunohematology 2020;36:47-53.

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supporting

confidence: 60%

Section: Discussionmentioning

confidence: 70%

Weak D types 38 and 11: determination of frequencies in a Brazilian population and validation of an easy molecular assay for detection

et al. 2020

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“…Genetic alterations and mutations cause quantitative or qualitative changes in the D antigen expression, resulting in a variety of D alleles. These RHD alleles are classified as weak D, partial D, and Del 11 . Mutations in the weak D variants lead to decreased RHD gene expression without altering the protein structure.…”

Section: Introductionmentioning

confidence: 99%

RHD Genotyping of Rh-Negative and Weak D Phenotype among Blood Donors in Southeast Iran

Sadeghi-Bojd¹,

Amirizadeh²,

Oodi³

2021

IJHOSCR

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Background: The D antigen is a subset of Rh blood group antigens involved in the hemolytic disease of the newborn [HDFN] and hemolytic transfusion reaction [HTR]. The hybrid Rhesus box that was created after RH gene deletion, was known as a mechanism of the Rh-negative phenotype. Hybrid marker identification is used to confirm the deletion of the RHD gene and to determine zygosity. This study aims to detect this marker in Rh-negative and weak D phenotype blood donors of the southeast of Iran. Materials and Methods: The molecular analysis of the hybrid Rhesus box was performed on the 200 Rh-negative blood donors in Sistan and Baluchestan province, southeast Iran. The presence of alleles responsible for the D variants was assessed by DNA sequencing in 26 weak D phenotype donors. Results: Of the 200 Rh-negative blood samples, 198 samples were homozygous (99%), and two samples were heterozygous (1%). Heterozygous samples had RHD*01N.73 allele and the RHD*01N.18 allele. Of the 26 samples with weak D phenotype, 16 partial DLO (61%), 4 partial DBT1 (15.3%), 2 partial DV type 2 (7.7%), 1 weak D type 1, 1 weak D type 4.2.3, 1weak D type 105 and 1 RHD (S103P) (4%) were determined. Conclusion: Since RHD gene deletion is the main mechanism of the Rh-negativity in Sistan and Baluchestan provinces, a hybrid Rhesus box marker can be used in resolving RhD typing discrepancies by RHD genotyping methods.

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“…We have observed that when the molecular report does not provide an interpretation and recommendation, clinical practictioners not experienced in blood group genetics hesitate to interpret RHD genotyping results as D+ or D−. For the purposes of RhIG adminstration and transfusion, interpretation of an RHD genotype requires not only pertinent experience but also knowledge of the history 2,5 as well as the current evolving data [6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22] and literature reports 15,16,[23][24][25][26] of the risks for alloimmunization associated with specific RHD genotypes. 27 Hospital computer systems may require updating to accomodate new requirements, such as the ability to change a prior serologic D typing result, when it is overridden by a different D type based on RHD genotyping results.…”

mentioning

confidence: 99%

It's time to phase out “serologic weak D phenotype” and resolve D types with RHD genotyping including weak D type 4

et al. 2020

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High frequency of variant RHD genotypes among donors and patients of mixed origin with serologic weak‐D phenotype

Abstract: The frequency of partial D among mixed individuals with serologic weak-D phenotype is high. They should be managed as D-negative patients until molecular tests are complete.

Cited by 7 publications

References 28 publications

Weak D types 38 and 11: determination of frequencies in a Brazilian population and validation of an easy molecular assay for detection

Weak D types 38 and 11: determination of frequencies in a Brazilian population and validation of an easy molecular assay for detection

RHD Genotyping of Rh-Negative and Weak D Phenotype among Blood Donors in Southeast Iran

It's time to phase out “serologic weak D phenotype” and resolve D types with RHD genotyping including weak D type 4

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