Rh and RHAG Blood Group Systems

Daniels, Geoff

doi:10.1002/9781118493595.ch5

Cited by 20 publications

(6 citation statements)

References 668 publications

(491 reference statements)

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“…To gain insights into the accurate identification of samples of potential clinical interest that may deserve further genotyping, we focused our study on a subset of samples selected on the basis of preliminary molecular criteria and took advantage of our local DNA bank. Our analysis stressed on the RH genes, which are known to express more than 50 antigens [10]. Because many variant RHCE alleles have been reported in people of African origin, we sought to evaluate the relevance of genotyping that gene in 47 samples addressed for routine RHD molecular analysis and presenting with a RHD*weak D type 4.2.…”

Section: Discussionmentioning

confidence: 99%

“…While the clinical significance of anti-V and anti-VS has remained mild if any so far [10], expression of partial c and partial e as well as lack of expression of the high-frequency antigens Hr and Hr B together with hr S and hr B , respectively, is a critical issue [15,28,29,36,37,38,39,40], particularly in a transfusion context in patients that are prone to be transfused on a regular basis. Of note, it must be mentioned that anti-c has been reported in individuals carrying RHCE*ce.04 [28,29], this latter allele being importantly found in 45/47 samples.…”

Section: Discussionmentioning

confidence: 99%

“…The Rh system is extremely complex, not only in terms of molecular genetics but also because of the 54 antigens reported so far, some of them being of major clinical significance [10]. For years it has been demonstrated that some RHD variants, particularly those of the three African clusters [11], segregate with RHCE variants, which result in the expression of partial/rare antigens [12,13,14,15,16,17,18,19].…”

Section: Introductionmentioning

confidence: 99%

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Insights into RHCE Molecular Analysis in Samples with Partial D Variants: the Experience of Western France

Fichou¹,

Maréchal

Scotet³

et al. 2015

Transfus Med Hemother

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Background: Although systematic blood group genotyping of patients/donors is virtually possible, serological studies remain the gold standard to identify samples of clinical interest that may be further genotyped. In this context, we sought to identify variant D alleles that are likely to be clinically relevant in terms of other Rh antigens in a subset of population genotyped in Western France. Methods: Samples presenting with the RHD*weak D type 4.2.2 allele (n = 47) were selected for the study. RHCE exons 1-7 were directly sequenced, and expression of Rh antigens was predicted on the basis of the molecular data. Results: Of the 47 samples tested, 19 (40.4%) were predicted to be of potential clinical interest. Moreover, we could show that selecting the samples to be genotyped by the nature of their variant D allele (i.e., RHD*weak D type 4.2.2 allele) rather than by their Duffy-null status appears to increase significantly the likelihood of identifying clinically relevant individuals for Rh status. Conclusion: On the basis of our findings we suggest that all individuals genotyped as weak D type 4.2.2 should be systematically screened for RHCE variants by molecular analysis on a routine basis.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Insights into RHCE Molecular Analysis in Samples with Partial D Variants: the Experience of Western France

Fichou¹,

Maréchal

Scotet³

et al. 2015

Transfus Med Hemother

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“…As opposed to them, it was considered that individuals with partial D can form anti-D antibody (after receiving D-positive blood) against the part of the D antigen which they are lacking, and should therefore only receive D-negative blood. [9][10][11] However, this assumption was diminished after it was noted that polypeptide D with individuals with the phenotype weak D is not normally built and that people with this phenotype can form anti-D antibody. Many examples of D weak and partial D have been examined on the molecular level.…”

Section: Introductionmentioning

confidence: 99%

“…Essentially, the phenotype D weak type 4.2 is functionally identical to the partial antigen DAR, even though it has been described that erythrocytes of these two phenotypes lead to formation of anti-D antibodies in recipients. 10 Erythrocytes of the phenotype weak D type 2 have the lowest density of all the most common types of the weak D antigen. Therefore, Flegel and associates have recommended that erythrocytes of the phenotype weak D type 2 are a threshold for the detection of anti-D test reagents and should be used as part of quality control in routine immunohematological work.…”

Section: Introductionmentioning

confidence: 99%

First Results in Genotyping for Blood Donors of the Republic of Srpska with Serological Weak D Antigen

Guzijan¹,

Lilić²,

Jukić³

et al. 2017

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Introduction: The Rh system is very complex, polymorphous and the most significant for clinical practice, along with the ABO blood group system. The D antigen is the most important antigen in the Rh system and the most immunogenic one, following the ABO antigens. The D antigen, which consists of a mosaic of epitopes, is determined in all the blood donors and patients. Most people are either RhD positive or RhD negative, but there is a certain number of people who have a variation of the D antigen, which are called weak D, partial D and DEL phenotypes. Aim of the Study: The objective is to use molecular methods to determine whether blood donors in the Republic of Srpska (with whom a serological weak D antigen has been detected) really have the weak D antigen, partial D, a combination of these two variants or if their D antigen is normally present, but the used anti-D serum tests did not have the avidity needed to prove the presence of this antigen in blood donors. Patients and Methods: Blood samples were used from regular blood donors, who had been determined as persons with a weaker D antigen (based on the agglutination strength) using serological techniques, the test tube method, the microplate method and the gel method. To determine the blood groups and red blood cell/erythrocyte antigen typing, the following methods were applied: a) test tube method or agglutination in an aqueous environment, b) gel method, c) microplate method and d) molecular determination of blood groups. Results: Blood group samples were collected from April 2016 to February 2017 in the Institute for Transfusion Medicine of Republika Srpska. During this period, blood was collected from 8153 voluntary donors. It was serologically proved that 40 donors (0.49%) had the weak D antigen. All results where the weak D antigen was determined serologically were confirmed by molecular testing. 23 respondents were proved to have weak D type 3 (0.28%), while 17 had weak D type 1 (0.20%). Conclusion: The results from the first molecular testing of our population is in accordance with the results of frequency of weak D antigen in the populations of other European countries, though it did show a small advantage of weak D type 3 over weak D type 1.

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Molecular RHD-RHCE Analysis by Multiplex PCR of Short Fluorescent Fragments

Fichou

Férec

2015

Molecular Typing of Blood Cell Antigens

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Several hundred variant alleles have been reported within the homologous RHD and RHCE genes that encode the antigens involved in the human Rh blood group system, which is of the main interest in the field of both transfusion and obstetrical medicine. Although these variants can be mostly characterized at the molecular level by sequence-specific primer polymerase chain reaction (SSP-PCR) and/or direct sequencing, some allelic combinations remain unresolved by conventional methods. Typically exon deletion or hybrid genes may be difficult to assess in a heterozygous context. Here we describe a qualitative and quantitative method to resolve copy number variations in the RH gene exons by quantitative multiplex polymerase chain reaction (PCR) of short fluorescent fragments (QMPSF).

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Rh and RHAG Blood Group Systems

Cited by 20 publications

References 668 publications

Insights into <b>RHCE</b> Molecular Analysis in Samples with Partial <b>D</b> Variants: the Experience of Western France

Insights into <b>RHCE</b> Molecular Analysis in Samples with Partial <b>D</b> Variants: the Experience of Western France

First Results in Genotyping for Blood Donors of the Republic of Srpska with Serological Weak D Antigen

Molecular RHD-RHCE Analysis by Multiplex PCR of Short Fluorescent Fragments

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