Anti-D (-RH1) of the Rh blood group system is clinically important as it causes haemolytic transfusion reactions and haemolytic disease of the fetus and newborn. Although most people are either D+ or D−, there is a plethora of D variants, often categorized as either weak D or partial D. These two types are inadequately defined and the dichotomy is potentially misleading. DVI is the D variant most commonly associated with anti-D production and UK guidelines recommend that patients are tested with anti-D reagents that do not react with DVI. Weak D types 1, 2, and 3 are seldom, if ever, associated with alloanti-D production, so a policy recommendation would be to treat patients with those D variants as D+, to preserve D− stocks, whereas patients with all other D variants would be treated as D−. All donors with D variant red cells, including DVI, should be treated as D+.

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.12275

Variants of RhD--current testing and clinical consequences.

The ATP‐binding cassette (ABC) transporter superfamily comprises membrane proteins that efflux various substrates across extra‐ and intracellular membranes. Mutations in ABC genes cause 21 human disorders or phenotypes with Mendelian inheritance, including cystic fibrosis, adrenoleukodystrophy, retinal degeneration, cholesterol, and bile transport defects. To provide tools to study the function of human ABC transporters we compiled data from multiple genomics databases. We analyzed ABC gene conservation within human populations and across vertebrates and surveyed phenotypes of ABC gene mutations in mice. Most mouse ABC gene disruption mutations have a phenotype that mimics human disease, indicating they are applicable models. Interestingly, several ABCA family genes, whose human function is unknown, have cholesterol level phenotypes in the mouse. Genome‐wide association studies confirm and extend ABC traits and suggest several new functions to investigate. Whole‐exome sequencing of tumors from diverse cancer types demonstrates that mutations in ABC genes are not common in cancer, but specific genes are overexpressed in select tumor types. Finally, an analysis of the frequency of loss‐of‐function mutations demonstrates that many human ABC genes are essential with a low level of variants, while others have a higher level of genetic diversity.

The human ATP‐binding cassette (ABC) transporter superfamily

The equilibrative nucleoside transporter ENT1 is critical for nucleotide homeostasis and optimal erythropoiesis

Background The D antigen is the most immunogenic antigen in the Rh system D variants must be considered if there is a significant discrepancy in the strength of reaction obtained with different anti-D reagents, a discrepancy between current and historical test results and if anti-D is detected in an individual serologically typed as RhD positive A panel of monoclonal anti-D reagents can be used to identify partial D and weak D variants The aim of this study was to develop a strategy for RhD typing in discrepant cases Materials and methods Sixty RhD discrepant samples referred to our Institute for confirmation of RhD status were tested with a panel of 12 monoclonal anti-D reagents (ALBAclone advanced partial RhD typing kit) and Rh phenotype was determined using C, c, D, E, and e antisera Results Ninety-three percent of the RhD discrepant cases were classified into weak and partial D using this kit Among the D variants characterised, 37% belonged to DFR, 23% to DOL, 12% to weak D, and the remaining 21% to DAR, DV, DMH, DCS and DVI categories Ninety-seven percent of the D variants were "C" antigen positive Out of the panel of 12 monoclonal anti-D used, cell line LHM-70/45 gave negative reactions with all RhD discrepant cases and cell lines LHM-76/59, LHM-76/55 and ESD-1 gave positive reactions with all 60 RhD discrepant cases studied Discussion The Advanced partial D kit was very useful in characterising and identifying D variants in the Indian population A preliminary strategy for the detection and identification of D variants in discrepant cases could be to test for the presence of "C" antigen with anti-C, and for "D" antigen with anti-D of cell line LHM 70/45 A more comprehensive, but simple way to identify D variants in routine RhD typing is to use two anti-D reagents ie LHM 70/45 and one out of LHM-76/59, LHM-76/55 and ESD-1 D variants can be further characterised by using the partial D typing kit and molecular genotyping in specialised laboratories

A simple diagnostic strategy for RhD typing in discrepant cases in the Indian population.

Accurate and rapid blood typing plays a vital role in a variety of biomedical and forensic scenarios, but recognizing weak agglutination remains challenging. Herein, we demonstrated a flipping identification with a prompt error-discrimination (FLIPPED) platform for automatic blood group readouts. Bromocresol green dye was exploited as a characteristic chromatography indicator for the differentiation of plasma from whole blood by presenting a teal color against a brown color. After integrating these color changes into a quick-response (QR) code, prompt typing of ABO and Rhesus groups was automatically achieved and data could be uploaded wirelessly within 30 s using a commercially available smartphone to facilitate blood cross-matching. We further designed a color correction model and algorithm to remove potential errors from scanning angles and ambient light intensities, by which weak agglutination could be accurately recognized. With comparable accuracy and repeatability to classical column assay in grouping 450 blood samples, the proposed approach further demonstrates to be a versatile sample-to-result platform for clinical diagnostics, food safety, and environmental monitoring.

Flipped Quick-Response Code Enables Reliable Blood Grouping.

Patient samples were referred to our immunohematology reference laboratory to investigate the presence of a weak D antigen. In the last 3 years, 26 samples were received. Serology and molecular analyses were performed to identify the weak D variant. RHD mRNA from all patients was reverse transcribed, and cDNA was sequenced. The results were compared with a normal RHD sequence to identify the polymorphisms causing the weak D phenotype. Five different already known RHD variants were observed: weak D type 1 (5 individuals), weak D type 2 (1 individual), weak D type 42 (17 individuals), weak D type 45 (1 individual), and partial D DNB (2 individuals). Surprisingly, weak D type 42 was prevalent in our population, whereas weak D type 1, 2, and 3 are the most prevalent variants elsewhere. Anti-D was found in six cases of weak D type 42. The higher prevalence of weak D type 42 could be the result of a founder effect. Additional studies are needed to estimate the frequency of this variant in the general population.

/pdf/weak-d-type-42-cases-found-in-individuals-of-european-3eobz83eh9.pdf

Weak D type 42 cases found in individuals of European descent.

A new Rhnull allele in francophone Quebecers.

SUMMARY
Objectives

The goal of this study was to establish a red blood cell antigen portrait of self-identified Black donors for the province of Quebec, Canada.



Background

The demand for extensively phenotyped red blood cells is on the rise. A good example is the sickle cell patient cohort. To better answer their transfusion needs, Hema-Quebec put forward great efforts to increase the recruitment of donors among cultural communities.



Materials and Methods

In October 2009, an optional question was added on the record of donation to indicate the donor's ethnicity. Self-identified Black donors were extensively phenotyped by the Immunohematology Laboratory, whereas the Research and Development team genotyped red blood cell antigens to complete the picture.



Results

Approximately 1500 self-identified Black donors have donated blood at least once since the beginning of the programme. Genotyping results predicted rare phenotypes: 18 S−s− (3 U−, 15 U+w), 15 Js(a+b−), 5 Hy−, 3 Jo(a−), 34 hrB+w/− and 15 hrB−.



Conclusion

These Black donors, with or without a rare phenotype, are precious to the patient cohort depending on blood transfusions and to our organisation as the blood provider for the whole province of Quebec.

Red blood cell antigen portrait of self‐identified Black donors in Quebec

A new RHCE variant allele, RHCE*48C,1170T,1193A.

A novel variant DO*A allele with a c.370delT mutation leading to a DO-null phenotype in a Syrian family.

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