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  1. AU="Millard, Glenda M"
  2. AU="Springer, Andrea"
  3. AU="Hyunho Han"
  4. AU="Grommen, Sylvia V H"
  5. AU="Asemani, Yahya"
  6. AU="Ketomäki, Tuomo"
  7. AU=Cavallini Giorgio
  8. AU="Saha, Aakash"
  9. AU="Noguchi, J"
  10. AU="Löhr, B."
  11. AU="Lokie, Kelsey B"

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  1. Artikel ; Online: Fatal haemolytic transfusion reaction due to anti-En

    Suwanwootichai, Ploymanee / Lopez, Genghis H / Emthip, Morakot / Wilson, Brett / Millard, Glenda M / Onpuns, Sunisa / Laemsri, Kanchana / Bejrachandra, Sasitorn / Liew, Yew-Wah

    Vox sanguinis

    2022  Band 117, Heft 11, Seite(n) 1327–1331

    Abstract: Background and objectives: High-frequency antigen En: Materials and methods: Blood samples from the patient and three of his family members were investigated. Massively parallel sequencing (MPS) and DNA-microarray were used for genotyping. Standard ... ...

    Abstract Background and objectives: High-frequency antigen En
    Materials and methods: Blood samples from the patient and three of his family members were investigated. Massively parallel sequencing (MPS) and DNA-microarray were used for genotyping. Standard haemagglutination techniques were used for phenotyping and antibody investigations.
    Results: DNA sequencing showed the patient was homozygous for GYPA*M c.295delG (p.Val99Ter) predicting En(a-). Three family members were heterozygous for GYPA c.295delG. MPS and DNA-microarray predicted the patient was N- discordant with the N+ RBC phenotype. The patient's plasma was positive with enzyme/chemical-treated reagent RBCs but failed to react with En(a-) and M
    Conclusion: The GYPA c.295delG variant prevented GPA expression on RBCs resulting in En(a-) phenotype. The N+ phenotype result was probably due to the anti-N typing reagent detecting 'N' (MNS30) on GPB. The patient's alloantibody has anti-En
    Mesh-Begriff(e) Humans ; DNA ; Glycophorins/genetics ; Isoantibodies ; MNSs Blood-Group System/genetics ; Thailand ; Transfusion Reaction/genetics
    Chemische Substanzen DNA (9007-49-2) ; Glycophorins ; GYPA protein, human ; Isoantibodies ; MNSs Blood-Group System
    Sprache Englisch
    Erscheinungsdatum 2022-09-14
    Erscheinungsland England
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 80313-3
    ISSN 1423-0410 ; 0042-9007
    ISSN (online) 1423-0410
    ISSN 0042-9007
    DOI 10.1111/vox.13358
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  2. Artikel ; Online: A cold case of hemolytic disease of the fetus and newborn resolved by genomic sequencing and population studies to define a new antigen in the Rh system.

    Wilson, Brett / Davison, Candice L / Lopez, Genghis H / Millard, Glenda M / Liew, Yew-Wah / Powley, Tanya / Campbell, Tamika / Jadhao, Sudhir S / Nagaraj, Shivashankar H / Perry, Maree / Roulis, Eileen V / Toombs, Maree / Irving, David O / Flower, Robert L / Hyland, Catherine A

    Transfusion

    2024  

    Abstract: Background: We report an obstetric case involving an RhD-positive woman who had developed a red blood cell (RBC) antibody that was not detected until after delivery of a newborn, who presented with a positive direct antiglobulin test result. ... ...

    Abstract Background: We report an obstetric case involving an RhD-positive woman who had developed a red blood cell (RBC) antibody that was not detected until after delivery of a newborn, who presented with a positive direct antiglobulin test result. Immunohematology studies suggested that the maternal antibody was directed against a low-prevalence antigen on the paternal and newborn RBCs.
    Results: Comprehensive blood group profiling by targeted exome sequencing revealed a novel nonsynonymous single nucleotide variant (SNV) RHCE c.486C>G (GenBank MZ326705) on the RHCE*Ce allele, for both the father and newborn. A subsequent genomic-based study to profile blood groups in an Indigenous Australian population revealed the same SNV in 2 of 247 individuals. Serology testing showed that the maternal antibody reacted specifically with RBCs from these two individuals.
    Discussion: The maternal antibody was directed against a novel antigen in the Rh blood group system arising from an RHCE c.486C>G variant on the RHCE*Ce allele linked to RHD*01. The variant predicts a p.Asn162Lys change on the RhCE protein and has been registered as the 56th antigen in the Rh system, ISBT RH 004063.
    Conclusion: This antibody was of clinical significance, resulting in a mild to moderate hemolytic disease of the fetus and newborn (HDFN). In the past, the cause of such HDFN cases may have remained unresolved. Genomic sequencing combined with population studies now assists in resolving such cases. Further population studies have potential to inform the need to design population-specific red cell antibody typing panels for antibody screening in the Australian population.
    Sprache Englisch
    Erscheinungsdatum 2024-04-30
    Erscheinungsland United States
    Dokumenttyp Case Reports
    ZDB-ID 208417-x
    ISSN 1537-2995 ; 0041-1132
    ISSN (online) 1537-2995
    ISSN 0041-1132
    DOI 10.1111/trf.17205
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  3. Artikel ; Online: A new high-prevalence LW antigen detected by an antibody in an Indigenous Australian homozygous for LW*A c.309C>A variant.

    Lopez, Genghis H / Wilson, Brett / Millard, Glenda M / Cawthorne, Tanya L / Grey, Dianne E / Fong, Elizabeth A / Flower, Robert L / Hyland, Catherine A / Liew, Yew-Wah

    Vox sanguinis

    2022  Band 117, Heft 7, Seite(n) 958–965

    Abstract: Background and objectives: The LW gene encodes the LW glycoprotein that carries the antigens of the LW blood group system. LW antigens are distinct from D antigen, however, they are phenotypically related and anti-LW antibodies are often mistaken as ... ...

    Abstract Background and objectives: The LW gene encodes the LW glycoprotein that carries the antigens of the LW blood group system. LW antigens are distinct from D antigen, however, they are phenotypically related and anti-LW antibodies are often mistaken as anti-D. An antibody was detected in an Australian patient of Aboriginal descent who consistently typed as LW(a+b-). This study aimed to describe the antibody recognizing a high-prevalence antigen on the LW glycoprotein.
    Study design and methods: Samples from the patient and her four siblings were investigated. DNA was genotyped by single nucleotide polymorphism (SNP)-microarray and massively parallel sequencing (MPS) platforms. Red blood cells (RBCs) were phenotyped using standard haemagglutination techniques. Antibody investigations were performed using a panel of phenotyped RBCs from adults and cord blood cells.
    Results: SNP-microarray and MPS genotyped all family members as LW*A/A, (c.299A), predicting LW(a+b-). In addition, a novel LW*A c.309C>A single nucleotide variant was detected in all family members. The patient and one of her siblings (M4) were LW c.309C>A homozygous. Antibody from the patient reacted positive to all reagent panel RBCs and cord blood cells but negative with RBCs from LW(a-b-), Rh
    Conclusion: Antibody detected in the patient recognized a novel high-prevalence antigen, LWEM, in the LW blood group system. LWEM-negative patients who developed anti-LWEM can be safely transfused with D+ RBCs, however, D- is preferred. Accurate antibody identification can help better manage allocation of blood products especially when D- RBCs are in short supply.
    Mesh-Begriff(e) Adult ; Australia/epidemiology ; Blood Group Antigens/genetics ; Female ; Hemagglutination ; Humans ; Isoantibodies ; Prevalence ; Rh-Hr Blood-Group System/genetics
    Chemische Substanzen Blood Group Antigens ; Isoantibodies ; Rh-Hr Blood-Group System
    Sprache Englisch
    Erscheinungsdatum 2022-04-12
    Erscheinungsland England
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 80313-3
    ISSN 1423-0410 ; 0042-9007
    ISSN (online) 1423-0410
    ISSN 0042-9007
    DOI 10.1111/vox.13276
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  4. Artikel ; Online: Hemolytic disease of the fetus and newborn caused by anti-s

    Lopez, Genghis H / Emthip, Morakot / Suwanwootichai, Ploymanee / Millard, Glenda M / Wilson, Brett / Onpuns, Sunisa / Laemsri, Kanchana / Chiewsilp, Pimol / Flower, Robert L / Hyland, Catherine A / Liew, Yew-Wah

    Transfusion

    2022  Band 62, Heft 10, Seite(n) 2137–2142

    Abstract: Background: Low-prevalence antigen s: Materials and methods: Three family members and four blood donors were investigated in the study. Massively Parallel Sequencing (MPS) was used for genotyping. Standard hemagglutination techniques were used in ... ...

    Abstract Background: Low-prevalence antigen s
    Materials and methods: Three family members and four blood donors were investigated in the study. Massively Parallel Sequencing (MPS) was used for genotyping. Standard hemagglutination techniques were used in titration studies, phenotyping, and enzyme/chemical studies. Anti-s, anti-Mi
    Results: The mother was GYP*Mur/Mur. The father and the four donors were GYPB*s/s
    Discussion: This is the first report of HDFN due to anti-s
    Mesh-Begriff(e) Blood Donors ; Erythroblastosis, Fetal/epidemiology ; Female ; Fetus ; Glycophorins/genetics ; Humans ; Infant, Newborn ; MNSs Blood-Group System/genetics ; Mothers ; Peptide Hydrolases/genetics ; Phenotype ; Pregnancy ; Prevalence ; Thailand/epidemiology
    Chemische Substanzen GYPB protein, human ; Glycophorins ; MNSs Blood-Group System ; Peptide Hydrolases (EC 3.4.-)
    Sprache Englisch
    Erscheinungsdatum 2022-09-05
    Erscheinungsland United States
    Dokumenttyp Case Reports ; Research Support, Non-U.S. Gov't
    ZDB-ID 208417-x
    ISSN 1537-2995 ; 0041-1132
    ISSN (online) 1537-2995
    ISSN 0041-1132
    DOI 10.1111/trf.17086
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  5. Artikel ; Online: Modified expression of the KEL2 (k) blood group antigen attributed to p.Leu196Val amino acid change three residues from the K/k antigen polymorphism site: implications for donor screening.

    Millard, Glenda M / Lopez, Genghis H / Turner, Elise M / Lizarazu, Maria E / Roots, Naomi M / Liew, Yew-Wah / Flower, Robert L / Hyland, Catherine A

    Transfusion

    2018  Band 59, Heft 3, Seite(n) 1156–1158

    Mesh-Begriff(e) Antigens, Bacterial/chemistry ; Antigens, Bacterial/genetics ; Antigens, Bacterial/immunology ; Antigens, Surface/chemistry ; Antigens, Surface/genetics ; Antigens, Surface/immunology ; Blood Donors/statistics & numerical data ; Blood Group Antigens/immunology ; Donor Selection/methods ; Erythrocytes/immunology ; Erythrocytes/metabolism ; Female ; Genotype ; Humans ; Phenotype
    Chemische Substanzen Antigens, Bacterial ; Antigens, Surface ; Blood Group Antigens ; K antigens
    Sprache Englisch
    Erscheinungsdatum 2018-12-26
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 208417-x
    ISSN 1537-2995 ; 0041-1132
    ISSN (online) 1537-2995
    ISSN 0041-1132
    DOI 10.1111/trf.15106
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  6. Artikel: Frequency of Mi

    Lopez, Genghis H / Wilson, Brett / Turner, Robyn M / Millard, Glenda M / Fraser, Nicole S / Roots, Naomi M / Liew, Yew-Wah / Hyland, Catherine A / Flower, Robert L

    Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie

    2019  Band 47, Heft 4, Seite(n) 279–286

    Abstract: Background: MNS blood group system genes : Method: Blood samples from 5,098 Australian blood donors were randomly selected and screened for Mi ... a ... using anti-Mi ... a ... monoclonal antibody (CBC-172) by standard haemagglutination technique. ...

    Abstract Background: MNS blood group system genes
    Method: Blood samples from 5,098 Australian blood donors were randomly selected and screened for Mi<sup>a</sup> using anti-Mi<sup>a</sup> monoclonal antibody (CBC-172) by standard haemagglutination technique. Mi<sup>a</sup>-positive red blood cells (RBCs) were further characterised using a panel of phenotyping reagents. Genotyping by high-resolution melting analysis and DNA sequencing were used to confirm serology.
    Result: RBCs from 11/5,098 samples were Mi<sup>a</sup>-positive, representing a frequency of 0.22%. Serological and molecular typing identified four types of Mi<sup>a</sup>-positive hybrid glycophorins: GP.Hut (
    Conclusion: This is the first comprehensive study on the frequency of Mi<sup>a</sup> and types of hybrid glycophorins present in an Australian blood donor population. The demographics of Australia are diverse and ever-changing. Knowing the blood group profile in a population is essential to manage transfusion needs.
    Sprache Englisch
    Erscheinungsdatum 2019-11-14
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article
    ZDB-ID 2100848-6
    ISSN 1660-3818 ; 1660-3796
    ISSN (online) 1660-3818
    ISSN 1660-3796
    DOI 10.1159/000504026
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  7. Artikel ; Online: Investigation of the variable In(Lu) phenotype caused by KLF1 variants.

    Fraser, Nicole S / Knauth, Christine M / Schoeman, Elizna M / Moussa, Assia / Perkins, Andrew C / Walsh, Terry / Millard, Glenda M / Dean, Melinda M / Hyland, Catherine A / Flower, Robert L

    Transfusion

    2018  Band 58, Heft 10, Seite(n) 2414–2420

    Abstract: Introduction: KLF1 is an essential transcriptional activator that drives erythropoiesis. KLF1 variants can result in the Inhibitor of Lutheran, or In(Lu), phenotype where red blood cells (RBCs) have reduced BCAM (LU) and CD44 (IN). Other RBC surface ... ...

    Abstract Introduction: KLF1 is an essential transcriptional activator that drives erythropoiesis. KLF1 variants can result in the Inhibitor of Lutheran, or In(Lu), phenotype where red blood cells (RBCs) have reduced BCAM (LU) and CD44 (IN). Other RBC surface molecules also have changed expression; however, there is controversy in the literature regarding which are truly impacted. We aimed to investigate KLF1 variants in the Australian population.
    Study design and methods: In(Lu) samples were sourced through screening and through the RBC reference laboratory. Blood donor samples (8036) were screened to identify weakened/absent Lu
    Results: Four of 8036 donors were identified to be In(Lu), and two previously identified In(Lu) samples were provided from the RBC reference laboratory. Five different KLF1 variants were identified; two were novel: c.954G>C/p.Trp318Cys and c.421C>T/p.Arg141*. BCAM and CD44 were reduced in all samples, consistent with previous reports. As a group, In(Lu) RBCs had reduced CD35 (KN), ICAM4 (LW), and CD147 (OK), and demonstrated increased binding of lectins ECA and SNAI. One In(Lu) sample had elevated HbF and another elevated HbA2.
    Conclusion: Different KLF1 variants may potentially produce variable phenotypes. A framework for investigating KLF1 variants and their phenotypic impact has been provided. In the future, given available international databases, further testing algorithms (as advocated here) will allow for correlation of phenotype with genotype and therefore accurately document this variability between KLF1 variants.
    Mesh-Begriff(e) Australia ; Blood Group Antigens/blood ; Chromatography, High Pressure Liquid ; Erythrocytes/immunology ; Flow Cytometry ; Genetic Association Studies ; Genetic Variation ; Humans ; Kruppel-Like Transcription Factors/genetics ; Lutheran Blood-Group System/chemistry ; Phenotype
    Chemische Substanzen Blood Group Antigens ; Kruppel-Like Transcription Factors ; Lutheran Blood-Group System ; erythroid Kruppel-like factor
    Sprache Englisch
    Erscheinungsdatum 2018-09-17
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 208417-x
    ISSN 1537-2995 ; 0041-1132
    ISSN (online) 1537-2995
    ISSN 0041-1132
    DOI 10.1111/trf.14926
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  8. Artikel ; Online: Non-invasive fetal RHD genotyping for RhD negative women stratified into RHD gene deletion or variant groups: comparative accuracy using two blood collection tube types.

    Hyland, Catherine A / Millard, Glenda M / O'Brien, Helen / Schoeman, Elizna M / Lopez, Genghis H / McGowan, Eunike C / Tremellen, Anne / Puddephatt, Rachel / Gaerty, Kirsten / Flower, Robert L / Hyett, Jonathan A / Gardener, Glenn J

    Pathology

    2017  Band 49, Heft 7, Seite(n) 757–764

    Abstract: Non-invasive fetal RHD genotyping in Australia to reduce anti-D usage will need to accommodate both prolonged sample transport times and a diverse population demographic harbouring a range of RHD blood group gene variants. We compared RHD genotyping ... ...

    Abstract Non-invasive fetal RHD genotyping in Australia to reduce anti-D usage will need to accommodate both prolonged sample transport times and a diverse population demographic harbouring a range of RHD blood group gene variants. We compared RHD genotyping accuracy using two blood sample collection tube types for RhD negative women stratified into deleted RHD gene haplotype and RHD gene variant cohorts. Maternal blood samples were collected into EDTA and cell-free (cf)DNA stabilising (BCT) tubes from two sites, one interstate. Automated DNA extraction and polymerase chain reaction (PCR) were used to amplify RHD exons 5 and 10 and CCR5. Automated analysis flagged maternal RHD variants, which were classified by genotyping. Time between sample collection and processing ranged from 2.9 to 187.5 hours. cfDNA levels increased with time for EDTA (range 0.03-138 ng/μL) but not BCT samples (0.01-3.24 ng/μL). For the 'deleted' cohort (n=647) all fetal RHD genotyping outcomes were concordant, excepting for one unexplained false negative EDTA sample. Matched against cord RhD serology, negative predictive values using BCT and EDTA tubes were 100% and 99.6%, respectively. Positive predictive values were 99.7% for both types. Overall 37.2% of subjects carried an RhD negative baby. The 'variant' cohort (n=15) included one novel RHD and eight hybrid or African pseudogene variants. Review for fetal RHD specific signals, based on one exon, showed three EDTA samples discordant to BCT, attributed to high maternal cfDNA levels arising from prolonged transport times. For the deleted haplotype cohort, fetal RHD genotyping accuracy was comparable for samples collected in EDTA and BCT tubes despite higher cfDNA levels in the EDTA tubes. Capacity to predict fetal RHD genotype for maternal carriers of hybrid or pseudogene RHD variants requires stringent control of cfDNA levels. We conclude that fetal RHD genotyping is feasible in the Australian environment to avoid unnecessary anti-D immunoglobulin prophylaxis.
    Sprache Englisch
    Erscheinungsdatum 2017-12
    Erscheinungsland England
    Dokumenttyp Journal Article
    ZDB-ID 7085-3
    ISSN 1465-3931 ; 0031-3025
    ISSN (online) 1465-3931
    ISSN 0031-3025
    DOI 10.1016/j.pathol.2017.08.010
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  9. Artikel ; Online: A DEL phenotype attributed to RHD Exon 9 sequence deletion: slipped-strand mispairing and blood group polymorphisms.

    Lopez, Genghis H / Turner, Robyn M / McGowan, Eunike C / Schoeman, Elizna M / Scott, Stacy A / O'Brien, Helen / Millard, Glenda M / Roulis, Eileen V / Allen, Amanda J / Liew, Yew-Wah / Flower, Robert L / Hyland, Catherine A

    Transfusion

    2017  Band 58, Heft 3, Seite(n) 685–691

    Abstract: Background: The RhD blood group antigen is extremely polymorphic and the DEL phenotype represents one such class of polymorphisms. The DEL phenotype prevalent in East Asian populations arises from a synonymous substitution defined as RHD*1227A. However, ...

    Abstract Background: The RhD blood group antigen is extremely polymorphic and the DEL phenotype represents one such class of polymorphisms. The DEL phenotype prevalent in East Asian populations arises from a synonymous substitution defined as RHD*1227A. However, initially, based on genomic and cDNA studies, the genetic basis for a DEL phenotype in Taiwan was attributed to a deletion of RHD Exon 9 that was never verified at the genomic level by any other independent group. Here we investigate the genetic basis for a Caucasian donor with a DEL partial D phenotype and compare the genomic findings to those initial molecular studies.
    Study design and methods: The 3'-region of the RHD gene was amplified by long-range polymerase chain reaction (PCR) for massively parallel sequencing. Primers were designed to encompass a deletion, flanking Exon 9, by standard PCR for Sanger sequencing. Targeted sequencing of exons and flanking introns was also performed.
    Results: Genomic DNA exhibited a 1012-bp deletion spanning from Intron 8, across Exon 9 into Intron 9. The deletion breakpoints occurred between two 25-bp repeat motifs flanking Exon 9 such that one repeat sequence remained.
    Conclusion: Deletion mutations bordered by repeat sequences are a hallmark of slipped-strand mispairing (SSM) event. We propose this genetic mechanism generated the germline deletion in the Caucasian donor. Extensive studies show that the RHD*1227A is the most prevalent DEL allele in East Asian populations and may have confounded the initial molecular studies. Review of the literature revealed that the SSM model explains some of the extreme polymorphisms observed in the clinically significant RhD blood group antigen.
    Mesh-Begriff(e) Base Sequence ; Exons ; Humans ; Polymorphism, Genetic ; Rh-Hr Blood-Group System/genetics ; Sequence Deletion ; Taiwan
    Chemische Substanzen Rh-Hr Blood-Group System ; Rho(D) antigen
    Sprache Englisch
    Erscheinungsdatum 2017-12-06
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 208417-x
    ISSN 1537-2995 ; 0041-1132
    ISSN (online) 1537-2995
    ISSN 0041-1132
    DOI 10.1111/trf.14439
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  10. Artikel ; Online: Genotyping by sequencing defines independent novel RHD variants for an antenatal patient and a blood donor.

    Lopez, Genghis H / McGowan, Eunike C / Condon, Jennifer A / Schoeman, Elizna M / Millard, Glenda M / O'Brien, Helen / Roulis, Eileen V / Ochoa-Garay, Gorka / Liew, Yew-Wah / Flower, Robert L / Hyland, Catherine A

    Transfusion

    2017  Band 57, Heft 9, Seite(n) 2281–2283

    Sprache Englisch
    Erscheinungsdatum 2017-09
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 208417-x
    ISSN 1537-2995 ; 0041-1132
    ISSN (online) 1537-2995
    ISSN 0041-1132
    DOI 10.1111/trf.14250
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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