A proposed new low‐frequency antigen in the <scp>A</scp>ugustine blood group system associated with a severe case of hemolytic disease of the fetus and newborn

Millard, Glenda; McGowan, Eunike C.; Wilson, Brett; Martin, Jacqui R.; Spooner, Michaela; Morris, Scott; Farley, Ray; James, Simon; Liew, Yew‐Wah; Schoeman, Elizna M.; Dean, Melinda M.; Flower, Robert L.; Hyland, Catherine A.; Powley, Tanya; Roxby, David

doi:10.1111/trf.14562

Cited by 11 publications

(17 citation statements)

References 5 publications

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“…The predicted amino acid change is four residues from the amino acid that defines the At a antigen in the fifth extracellular loop. The antigen (AUG3) was named ATML after the initials of the patient .…”

Section: New Blood Group Antigensmentioning

confidence: 99%

International Society of Blood Transfusion Working Party on Red Cell Immunogenetics and Blood Group Terminology: Report of the Dubai, Copenhagen and Toronto meetings

Storry¹,

Clausen

Castilho

et al. 2018

Vox Sanguinis

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Background and objectives: The International Society of Blood Transfusion (ISBT) Working Party for Red Cell Immunogenetics and Blood Group Terminology meets in association with the ISBT congress and has met three times since the last report: at the international meetings held in Dubai, United Arab Emirates, September 2016 and Toronto, Canada, June 2018; and at a regional congress in Copenhagen, Denmark, June 2017 for an interim session. Methods: As in previous meetings, matters pertaining to blood group antigen nomenclature and classification were discussed. New blood group antigens were approved and named according to the serologic and molecular evidence presented. Results and conclusions: Fifteen new blood group antigens were added to eight blood group systems. One antigen was made obsolete based on additional data. Consequently, the current total of blood group antigens recognised by the ISBT is 360, of which 322 are clustered within 36 blood groups systems. The remaining 38 antigens are currently unassigned to a known system. Clinically significant blood group antigens continue to be discovered, through serology/sequencing and/or recombinant or genomic technologies.

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Section: New Blood Group Antigensmentioning

confidence: 99%

International Society of Blood Transfusion Working Party on Red Cell Immunogenetics and Blood Group Terminology: Report of the Dubai, Copenhagen and Toronto meetings

Storry¹,

Clausen

Castilho

et al. 2018

Vox Sanguinis

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“…RBCeq also managed to accurately report complex and rare blood group phenotypes observed in a Red Cell Reference setting such as Hy-, which weakens DO blood group expression and is rare in the African populations, as well as in Vel-, which is present in 2.56% and 0.6% of Scandinavian and African populations, and Jk(a+ w b-), which is common in most populations(36). Integrating NGS-based blood typing in the Red Cell Reference Laboratory represents a clinically beneficial approach to resolving the complex serology problems that arise from novel or rare alleles which alter or silence blood group expression, yet neither of the extant software tools has such functionality (37,38).…”

Section: Discussionmentioning

confidence: 99%

RBCeq: An Integrated Bioinformatics Algorithm Designed to Improve Blood Type Compatibility Testing

Jadhao

Davison

Roulis

et al. 2021

Preprint

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While blood transfusion is an essential cornerstone of hematological care, patients that require repetitive transfusion remain at persistent risk of alloimmunization due to the diversity of human blood group polymorphisms. Next-generation sequencing (NGS) is an effective means of identifying genotypic and phenotypic variations among the blood groups, while the accurate interpretation of such NGS data is currently hampered by a lack of accessibility to bioinformatics support. To address this unmet need, we have developed the RBCeq (https://www.rbceq.org/) platform, which consists of a novel bioinformatics algorithm coupled with a user-friendly web server capable of comprehensively delineating different blood group variants from genomics data with advanced visualization of results. The software profiles genomic data for 36 blood group systems, including two transcription factors and can identify small genetic alterations, including small indels and copy number variants. The RBCeq algorithm was validated on 403 samples which include 58 complex serology cases from Australian Red Cross LifeBlood, 100 samples from The MedSeq Project (phs000958) and a further 245 from Indigenous Australian participants. The final blood typing data from RBCeq was 99.83% concordant for 403 samples (85 different antigens in 21 blood group systems) with that listed from the International Society for Blood Transfusion database.

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“…In both cases the red cell antigen specificity could not be defined by conventional serology. The genomic outcomes resulted in attributing the antibodies in the first case to the known At(a+) (AUG1) antigen on the maternal red cells; in the second case to a novel antigen, now recognised as AUG3 (McBean et al , ; Millard et al , ). The cases exemplified the clinical significance of antigens in this newly classified blood group.…”

Section: Resolving Orphan Antigens By Wes: a Rare Disease Approachmentioning

confidence: 99%

Developments beyond blood group serology in the genomics era

2019

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Summary Blood group serology and single nucleotide polymorphism‐based genotyping platforms are accurate but do not provide a comprehensive cover for all 36 blood group systems and do not cover the antigen diversity observed among population groups. This review examines the extent to which genomics is shaping blood group serology. Resources for genomics include the Human Reference Genome Sequence assembly; curated blood group tables listing variants; public databases providing information on genetic variants from world‐wide studies; and massively parallel sequencing technologies. Blood group genomic studies span the spectrum, from bioinformatic data mining of huge data sets containing whole genome and whole exome information to laboratory investigations utilising targeted sequencing approaches. Blood group predictions based on genome sequencing and genomic studies are proving accurate, and have shown utility in both research and reference settings. Overall, studies confirm the potential for blood group genomics to reshape donor and patient transfusion management strategies to provide more compatible blood transfusions.

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A proposed new low‐frequency antigen in the Augustine blood group system associated with a severe case of hemolytic disease of the fetus and newborn

Cited by 11 publications

References 5 publications

International Society of Blood Transfusion Working Party on Red Cell Immunogenetics and Blood Group Terminology: Report of the Dubai, Copenhagen and Toronto meetings

International Society of Blood Transfusion Working Party on Red Cell Immunogenetics and Blood Group Terminology: Report of the Dubai, Copenhagen and Toronto meetings

RBCeq: An Integrated Bioinformatics Algorithm Designed to Improve Blood Type Compatibility Testing

Developments beyond blood group serology in the genomics era

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