Weak D and DEL alleles detected by routine SNaPshot genotyping: identification of four novel RHD alleles

  title={Weak D and DEL alleles detected by routine SNaPshot genotyping: identification of four novel RHD alleles},
  author={Monique Silvy and Sophie Simon and Julia Gouvitsos and Julie Di Cristofaro and Virginie Ferrera and Jacques Chiaroni and Pascal Bailly},
BACKGROUND: Molecular RHD blood group typing is very efficient for managing donors and patients carrying any of the various molecular types of weak D and DEL. The purpose of the work was to develop a multiplex polymerase chain reaction (PCR) SNaPshot assay for simultaneous detection of weak D and DEL alleles that are prevalent in Europeans, Africans, and Asians. 

RHD variants in Polish blood donors routinely typed as D–

The aim was to estimate the frequency of RHD alleles among the apparently D– Polish donor population and to characterize its molecular background.

Establishment of a medium‐throughput approach for the genotyping of RHD variants and report of nine novel rare alleles

This work has developed a new two‐step approach to denaturing high‐performance liquid chromatography to screen the entire RHD‐coding sequence, which results in discrepancy in weak or partial D blood, which requires genetic analysis.

Comprehensive Molecular Analysis of Serologically D-Negative and Weak/Partial D Phenotype in Thai Blood Donors

The most frequent alleles in 200 D-negative and 121 DEL samples were the whole RHD gene deletion and the Asian DEL alleles, respectively, which is a milestone to pave the way towards improvement of the current screening strategy to identify DEL donors accurately.

The Experience of RHD Genotyping in D-negative Blood Donors

Seventy-four cases of serologic D negative donors were reclassified as RHD variants by RHD genotyping, believed to have contributed to the improvement of transfusion safety by lowering the risk of anti-D alloimmunization in D-negative patients.

Variant screening of the RHD gene in a large cohort of subjects with D phenotype ambiguity: report of 17 novel rare alleles

Concerns that red blood cells of these phenotypes may cause anti‐D immunization when transfused to D– recipients and that serologic determination of these Phenotypes is often doubtful, make genetic analysis of the RHD gene highly desirable.

[Contribution of red blood group genotyping for recipients in immune-hematology through three years of activity at the EFS Alpes-Méditerranée].

Characterization of novel RHD alleles: relationship between phenotype, genotype, and trimeric architecture

This data indicates that the presence of two new variant RHD alleles in the blood stream is a cause for concern, but the prognosis is good for both transfusion and foetal protection.

A new strategy to identify rare blood donors: single polymerase chain reaction multiplex SNaPshot reaction for detection of 16 blood group alleles.

This study demonstrates a robust genotyping strategy for conducting rare donor screening which can be applied in blood centers and could be an important tool for identifying antigen-negative donors and, therefore, for providing rare blood.

RHD variants in Flanders, Belgium

D antigen variants may be grouped into partial D, weak D, and DEL types. Cumulative phenotype frequencies of these D variants may approach 1% in certain European regions. Unambiguous and quick

Weak D caused by a founder deletion in the RHD gene

The RhD blood group system exemplifies a genotype‐phenotype correlation by virtue of its highly polymorphic and immunogenic nature and is thought to result from missense mutations leading to quantitative change of the D antigen in the red blood cell membrane or intracellularly.



Effective molecular RHD typing strategy for blood donations

A real time–based RHD typing scheme was developed and tested during an 8‐month period and identified several weak D alleles that can be identified by molecular methods as polymerase chain reaction (PCR) and DNA sequencing of the RHD gene.

PCR screening for common weak D types shows different distributions in three Central European populations

BACKGROUND: DNA sequencing showed RHD mutations for all weak D phenotypes investigated in a study from Southwestern Germany. Molecular classification of weak D offers a more reliable basis than

Identification of RHD alleles with the potential of anti‐D immunization among seemingly D− blood donors in Upper Austria

To quantify the occurrence of weak D, DEL, and D+/− chimera among apparent D− first‐time blood donors, polymerase chain reaction (PCR) screening was implemented as a routine service.

Identification of 12 novel RHD alleles in western France by denaturing high‐performance liquid chromatography analysis

Although more than 100 RHD variants have currently been reported, many more rare alleles probably remain to be identified, and serologic determination of weak or partial D alleles is often not clear‐cut.

Partial D, weak D types, and novel RHD alleles among 33,864 multiethnic patients: implications for anti‐D alloimmunization and prevention

BACKGROUND: The D antigen includes category D, partial D, and weak D types, which are important because anti‐D alloimmunization can occur in some but not all persons that express a variant RHD

Detection of blood group genes using multiplex SNaPshot method

The SNaPshot (Applied Biosystems) method was adapted to detect SNPs in 10 common blood group systems and found nine of the 10 systems had single‐nucleotide polymorphisms in their genes.

Six years' experience performing RHD genotyping to confirm D− red blood cell units in Germany for preventing anti‐D immunizations

BACKGROUND: Red blood cell (RBC) units of D+ donors are falsely labeled D− if regular serologic typing fails to detect low D antigen expression or chimerism. The limitations of serology can be

A comprehensive analysis of DEL types: partial DEL individuals are prone to anti‐D alloimmunization

The least expressed D variants collectively called DEL are serologically detectable only by adsorption‐elution techniques, with so far only poorly defined antigenic properties.

Single PCR multiplex SNaPshot reaction for detection of eleven blood group nucleotide polymorphisms: optimization, validation, and one year of routine clinical use.

A multiplex-PCR SNaPshot assay adapted to the Southern French population, which includes individuals from sub-Saharan Africa and the Comoros archipelago, can provide a low-cost and fast genotyping tool well adapted to local ethnically mixed populations.

Molecular basis of the RHD gene in blood donors with DEL phenotypes in Shanghai

The purpose of the work was to analyse the genotype of D‐elute (DEL) samples and to elucidate whether there were novel DEL alleles in Chinese population.