An Integrated Bioinformatics Algorithm Designed to Improve Blood Type Compatibility Testing
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Genetic Screening for the Vel- Phenotype Circumvents Difficult Serological Screening Due to Variable Vel Expression Levels
UvA-DARE (Digital Academic Repository) Genetic basis of rare blood group variants Wigman, L. Publication date 2013 Link to publication Citation for published version (APA): Wigman, L. (2013). Genetic basis of rare blood group variants. General rights It is not permitted to download or to forward/distribute the text or part of it without the consent of the author(s) and/or copyright holder(s), other than for strictly personal, individual use, unless the work is under an open content license (like Creative Commons). Disclaimer/Complaints regulations If you believe that digital publication of certain material infringes any of your rights or (privacy) interests, please let the Library know, stating your reasons. In case of a legitimate complaint, the Library will make the material inaccessible and/or remove it from the website. Please Ask the Library: https://uba.uva.nl/en/contact, or a letter to: Library of the University of Amsterdam, Secretariat, Singel 425, 1012 WP Amsterdam, The Netherlands. You will be contacted as soon as possible. UvA-DARE is a service provided by the library of the University of Amsterdam (https://dare.uva.nl) Download date:28 Sep 2021 Chapter 6 Genetic screening for the Vel- phenotype circumvents difficult serological screening due to variable Vel expression levels Lonneke Haer-Wigman1 Shabnam Solati1 Aïcha Ait Soussan1 Erik Beckers2 Pim van der Harst3 Marga van Hulst-Sundermeijer4 Peter Ligthart1 Dick van Rhenen5 Hein Schepers3 Tamara Stegmann1 Masja de Haas1 C. Ellen van der Schoot1 1 Sanquin Research, Amsterdam and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands 2 Maastricht University Medical Centre+, Maastricht, The Netherlands 3 University Medical Center Groningen, University of Groningen, Groningen, The Netherlands 4 Sanquin Diagnostic Services, Amsterdam, The Netherlands 5 Sanquin Blood Bank, Rotterdam, Netherlands Manuscript under preparation Chapter 6 Abstract Background: Serological determination of the Vel- phenotype is challenging due to variable Vel expression levels. -
Blood Group Genomics
BLOOD GROUP GENOMICS Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry analysis of 36 blood group alleles among 396 Thai samples reveals region-specific variants Philaiphon Jongruamklang,1 Christoph Gassner,2 Stefan Meyer,2 Aksarakorn Kummasook,3 Marion Darlison,1 Chayanun Boonlum,4 Surin Chanta,5 Beat M. Frey,2 Martin L. Olsson,1,6* and Jill R. Storry 1,6* lood group antigen polymorphism shows great BACKGROUND: Blood group phenotype variation has variation in different world populations. The been attributed to potential resistance to pathogen reason for this is not completely understood; invasion. Variation was mapped in blood donors from however, it has been attributed to both Lampang (northern region) and Saraburi (central region), B Thailand, where malaria is endemic. The previously unknown blood group allele profiles were characterized ABBREVIATIONS: MALDI-TOF MS 5 matrix-assisted laser and the data were correlated with phenotypes. The high desorption/ionization time-of-flight mass spectrometry; PCR- incidence of the Vel-negative phenotype previously ASP 5 polymerase chain reaction with allele-specific reported in Thais was investigated. primers; SNP(s) 5 single nucleotide polymorphism(s). STUDY DESIGN AND METHODS: DNA from 396 From 1Hematology and Transfusion Medicine, Department of blood donors was analyzed by matrix-assisted laser Laboratory Medicine, Lund University, Lund, Sweden; desorption/ionization–time-of-flight mass spectrometry. 2Molecular Diagnostics & Research (MOC), Blood Transfusion Outliers were investigated by serology and DNA Service Zurich,€ Zurich-Schlieren,€ Switzerland; 3Department of sequencing. Allele discrimination assays for SMIM1 Medical Technology, School of Allied Health Sciences, rs1175550A/G and ACKR1 rs118062001C/T were University of Phayao, Phayao, Thailand; 4Transfusion Medicine, performed and correlated with antigen expression. -
Glycophorins and the MNS Blood Group System: a Narrative Review
16 Review Article Page 1 of 16 Glycophorins and the MNS blood group system: a narrative review Genghis H. Lopez1,2, Catherine A. Hyland1,3, Robert L. Flower1,3 1Clinical Services and Research Division, Australian Red Cross Lifeblood, Kelvin Grove, Queensland, Australia; 2School of Medical Science, Griffith Health, Griffith University, Gold Coast, Queensland, Australia; 3School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, Queensland, Australia Contributions: (I) Conception and design: All authors; (II) Administrative support: None; (III) Provision of study materials or patients: None; (IV) Collection and assembly of data: All authors; (V) Data analysis and interpretation: All authors; (VI) Manuscript writing: All authors; (VII) Final approval of manuscript: All authors. Correspondence to: Genghis H. Lopez, PhD. Clinical Services and Research Division, Australian Red Cross Lifeblood, 44 Musk Avenue, Kelvin Grove, Queensland 4059, Australia. Email: [email protected]. Abstract: The MNS blood group system, International Society of Blood Transfusion (ISBT) 002, is second after the ABO system. GYPA and GYPB genes encode MNS blood group antigens carried on glycophorin A (GPA), glycophorin B (GPB), or on variant glycophorins. A third gene, GYPE, produce glycophorin E (GPE) but is not expressed. MNS antigens arise from several genetic mechanisms. Single nucleotide variants (SNVs) contribute to the diversity of the MNS system. A new antigen SUMI (MNS50), p.Thr31Pro on GPA has been described in the Japanese population. Unequal crossing-over and gene conversion are the mechanisms forming hybrid glycophorins, usually from parent genes GYPA and GYPB. GYPE also contributes to gene recombination previously only described with GYPA. Recently, however, GYPE was shown to recombine with GYPB to form a GYP(B-E-B) hybrid. -
Comprehensive Red Blood Cell and Platelet Antigen Prediction from Whole Genome Sequencing: Proof of Principle
BLOOD GROUP GENOMICS Comprehensive red blood cell and platelet antigen prediction from whole genome sequencing: proof of principle William J. Lane,1,2 Connie M. Westhoff,3 Jon Michael Uy,1 Maria Aguad,1 Robin Smeland-Wagman,1 Richard M. Kaufman,1 Heidi L. Rehm,1,2,4,5 Robert C. Green,2,5,6 and Leslie E. Silberstein7 for the MedSeq Project* rediction of red blood cell (RBC) and platelet BACKGROUND: There are 346 serologically defined (PLT) antigens using DNA assays has the poten- red blood cell (RBC) antigens and 33 serologically tial to augment or replace traditional serologic defined platelet (PLT) antigens, most of which have antigen typing in many situations. DNA-based known genetic changes in 45 RBC or six PLT genes that P typing methods are more easily automated, amenable to correlate with antigen expression. Polymorphic sites multiplexing, and do not require expensive and some- associated with antigen expression in the primary times difficult to obtain serologic immunoglobulin literature and reference databases are annotated according to nucleotide positions in cDNA. This makes antigen prediction from next-generation sequencing data ABBREVIATIONS: CDS 5 coding DNA sequence; NGS 5 challenging, since it uses genomic coordinates. next-generation sequencing; SNP(s) 5 single-nucleotide STUDY DESIGN AND METHODS: The conventional polymorphism(s); WGS 5 whole genome sequencing. cDNA reference sequences for all known RBC and PLT From the 1Department of Pathology, the 6Division of Genetics, genes that correlate with antigen expression were Department of Medicine, and the 7Division of Transfusion aligned to the human reference genome. The alignments Medicine, Department of Pathology, Brigham and Women’s allowed conversion of conventional cDNA nucleotide Hospital; and 2Harvard Medical School, Boston, Massachusetts; positions to the corresponding genomic coordinates. -
Clinical Significance of Antibodies to Antigens in the Raph, John Milton
R EVIEW Proceedings from the International Society of Blood Transfusion Working Party on Immunohaematology, Workshop on the Clinical Significance of Red Blood Cell Alloantibodies, September 2, 2016, Dubai Clinical significance of antibodies to antigens in the Raph, John Milton Hagen, I, Globoside, Gill, Rh-associated glycoprotein, FORS, JR, LAN, Vel, CD59, and Augustine blood group systems M. Moghaddam and A.A. Naghi This article reviews information on the clinical significance and 6 shared missense mutation c.511C>T (p.Argl71Cys) as of antibodies to antigens in the Raph, John Milton Hagen, I, well as a synonymous single-nucleotide mutation (c.579A>G) Globoside, Gill, Rh-associated glycoprotein, FORS, JR, LAN, Vel, and had no clinical features. Although the CD151 protein is CD59, and Augustine blood group systems. Antibodies to many of the antigens in these groups are rarely encountered because of the critical to cell adhesion and signaling and is implicated in high prevalence of the associated antigens in most populations. cancer progression, its significance in transfusion medicine is For many of these antibodies, the clinical significance—that is, limited to only one report of a hemolytic transfusion reaction the potential to cause reduced survival of transfused antigen- 3 positive red blood cells or a transfusion reaction (e.g., anti-P, (HTR). Least-incompatible RBC units should be selected anti-Jra, and anti-Lan), and/or hemolytic disease of the fetus and for transfusion to patients with anti-MER2.2 No information newborn (e.g., anti-RHAG4 and anti-Vel)—has been documented. on anti-MER2 causing hemolytic disease of the fetus and For other antibodies, their prevalence is so rare that information newborn (HDFN) is available.4 on the clinical significance of their antibodies is not available (e.g., anti-FORS1). -
Targeted Exome Sequencing Defines Novel and Rare Variants in Complex Blood Group Serology Cases for a Red Blood Cell Reference Laboratory Setting
IMMUNOHEMATOLOGY Targeted exome sequencing defines novel and rare variants in complex blood group serology cases for a red blood cell reference laboratory setting Elizna M. Schoeman ,1 Eileen V. Roulis ,1 Yew-Wah Liew,2 Jacqueline R. Martin,2 Tanya Powley,2 Brett Wilson,2 Glenda M. Millard ,1 Eunike C. McGowan ,1 Genghis H. Lopez ,1 Helen O’Brien ,1 Jennifer A. Condon,3 Robert L. Flower ,1 and Catherine A. Hyland 1 he key role of a modern red blood cell (RBC) ref- BACKGROUND: We previously demonstrated that erence laboratory in transfusion medicine is to targeted exome sequencing accurately defined blood employ serology to solve complex problems. group genotypes for reference panel samples Often, the lack of appropriate RBCs, sera, or characterized by serology and single-nucleotide T polymorphism (SNP) genotyping. Here we investigate reagents makes confident resolution of a complex case the application of this approach to resolve problematic difficult. Resources can be costly and scarce, if available at serology and SNP-typing cases. all, and often require collaboration and generosity of col- 1 STUDY DESIGN AND METHODS: The TruSight One leagues from other international laboratories. In addition, sequencing panel and MiSeq platform was used for reference laboratories commonly employ single- sequencing. CLC Genomics Workbench software was nucleotide polymorphism (SNP) typing microarrays for used for data analysis of the blood group genes RBC genotyping investigations; however, these arrays are implicated in the serology and SNP-typing problem. not comprehensive in their coverage of blood groups or 2-5 Sequence variants were compared to public databases variants. When the combination of traditional serologic listing blood group alleles. -
This Issue of Immunohematology Is Supported by a Contribution From
Journal of Blood Group Serology and Molecular Genetics VOLUME 33, N UMBER 4, 2017 This issue of Immunohematology is supported by a contribution from Grifols Diagnostics Solutions, Inc. Dedicated to advancement and education in molecular and serologic immunohematology Immunohematology Journal of Blood Group Serology and Molecular Genetics Volume 33, Number 4, 2017 CONTENTS O RIGINAL R EP O RT 147 Assessment of common red blood cell pretreatments to yield an accurate serologic antigen phenotype compared with genotype- predicted phenotype T. Horn, J. Hamilton, J. Kosanke, V.W. Hare, W. Kluver, W. Beres, S. Nance, and M.A. Keller C ASE R EP O RT 152 Anti-Vel alloimmunization and severe hemolytic disease of the fetus and newborn K.J. Moise Jr., Y. Morales, M.F. Bertholf, S.N. Rossmann, and Y. Bai S ER O LO GI C M ETH O D R EVIEW 155 Separation of multiple antibodies by adsorption with allogeneic red blood cells E.M. Ekema O RIGINAL R EP O RT 159 Hemovigilance and the Notify Library B.I. Whitaker, D.M. Strong, M.J. Gandhi, and E. Petrisli O RIGINAL R EP O RT 165 Clinical and laboratory profile of anti-M D. Basu, S. Basu, M. Reddy, K. Gupta, and M. Chandy S ER O LO GI C M ETH O D R EVIEW 170 Dithiothreitol treatment of red blood cells C.B. Bub C omm UNI C AT I O NS 173 Thank You S. Nance and C. Flickinger 174 175 183 187 191 E R R AT U M A NN O UN C E M ENTS A DVERTISE M ENTS I NSTRU C TI O NS S UBS C RIPTI O N F O R A UTH O RS I NF O R M AT I O N E DITO R - IN -C HIEF E DITO RIAL B OARD Sandra Nance, MS, MT(ASCP)SBB Philadelphia, Pennsylvania Patricia Arndt, MT(ASCP)SBB Geralyn M. -
Mission Impossible with Anti-Vel
Mission Impossible with Anti-Vel BBTS September 2014 Stephanie Stone, Sheffield Teaching Hospitals Helen Kilgallon, NHSBT Sheffield 74 yr old female Presented to ENT May 2013: 4/52 bilateral nasal obstruction and intermittent epistaxis No B symptoms Past medical history: - Metallic mitral valve replacement 1974: Warfarin INR 3-4 - Dilated left atrium, AF, Pulmonary HTN - Angina, COPD - Type II DM, CKD stage 4, Gout, Bullous pemphygoid Social history - Retired, lives alone - 4 daughters – first in 1957 - Ex smoker - No regular ETOH - Exercise tolerance 25-40 yards - ECOG performance status 2 - Independent of activities of daily living Drug history - No known drug allergies – mild allergic reaction to blood component 2012 - Warfarin - Digoxin 125mcg od - Furosemide 40mg bd - Pravastatin 40mg on - Candesartan 8mg od - Linagliptin 5mg od - Quinine 300mg od - Betahistine 8mg tds Examination and investigations www.trialx.com Fibre optic examination: large post nasal mass – Fine needle aspiration taken 2cm cervical LN. No other palpable LN/hepatosplenomegaly/masses Hb 97 Mcv 92 Platelets 287 Wbc 6.9 Lymph 0.6 Reticulocytes 248 B12 394 Folate 8.0 Ferritin 252 Bil 10 Alt 40 Alb 44 LDH 708 DAT –ve Haptoglobin normal Immunoglobulins normal HIV/Hep B/C serology normal Bone marrow: normal Echo: good LV function, dilated LA, moderate TR, increased PA pressure CT neck, chest, abdomen and pelvis R-sided post nasal mass CT chest, abdomen and pelvis Multiple cervical and mediastinal lymph nodes Fine needle aspiration High grade cell Non Hodgkins Lymphoma: -
Art184 Bloodgroup
Issue 184, October 2016 www.proteinspotlight.org seeing red Vivienne Baillie Gerritsen The smallest of things can cause devastation. A word can hurt deeply. Distraction can create an accident. A spark can set off a fire. In the world of molecular biology, “small” rules. Life itself thrives on an intricate and very fragile harmony perpetuated by myriads of tiny molecules. And when something goes wrong, when a molecule changes its habits, it can create havoc. A few examples: cancer, Parkinson’s disease, Alzheimer’s and diabetes, to name but four. Blood transfusion – and even more so its effects – also depends on very small regions which themselves belong to very small molecules on the surface of each of our red blood cells. Pour the wrong kind of blood into someone, and you are in for serious complications. We all belong to a certain blood type, or group. As a consequence, we can only receive certain types of blood. Most of us have relatively common types and finding donors is usually not a problem. However, some people belong to very rare blood types, thus making blood transfusion a particularly delicate task. One of these types is known as Vel-negative. And after 60 years of scientific bafflement, it has finally been pinned down to a protein named SMIM1. shadowed until the 1920s. Today, however, Janský is credited with having been the blood group pioneer. With time it became apparent that everyone’s group is inherited, and that the success of transfusion depends on both the donor’s and the receiver’s blood type. -
Identification and Characterisation of SMIM1 Variants Determining the Vel Blood Group
Identification and characterisation of SMIM1 variants determining the Vel blood group Christophersen, Mikael Kronborg 2017 Document Version: Publisher's PDF, also known as Version of record Link to publication Citation for published version (APA): Christophersen, M. K. (2017). Identification and characterisation of SMIM1 variants determining the Vel blood group. Lund University: Faculty of Medicine. Total number of authors: 1 General rights Unless other specific re-use rights are stated the following general rights apply: Copyright and moral rights for the publications made accessible in the public portal are retained by the authors and/or other copyright owners and it is a condition of accessing publications that users recognise and abide by the legal requirements associated with these rights. • Users may download and print one copy of any publication from the public portal for the purpose of private study or research. • You may not further distribute the material or use it for any profit-making activity or commercial gain • You may freely distribute the URL identifying the publication in the public portal Read more about Creative commons licenses: https://creativecommons.org/licenses/ Take down policy If you believe that this document breaches copyright please contact us providing details, and we will remove access to the work immediately and investigate your claim. LUND UNIVERSITY PO Box 117 221 00 Lund +46 46-222 00 00 Download date: 02. Oct. 2021 Identification and characterisation of SMIM1 variants determining the Vel blood group -
Canine Blood Group Prevalence and Geographical Distribution Around the World: an Updated Systematic Review
animals Review Canine Blood Group Prevalence and Geographical Distribution around the World: An Updated Systematic Review Sara Mangiaterra 1, Giacomo Rossi 1 , Maria Teresa Antognoni 2, Matteo Cerquetella 1 , Andrea Marchegiani 1 , Arianna Miglio 2 and Alessandra Gavazza 1,* 1 School of Biosciences and Veterinary Medicine, University of Camerino, 62032 Camerino, Italy; [email protected] (S.M.); [email protected] (G.R.); [email protected] (M.C.); [email protected] (A.M.) 2 Department of Veterinary Medicine, Blood Bank and Transfusion Unit EMOVET-UNIPG, University of Perugia, 06126 Perugia, Italy; [email protected] (M.T.A.); [email protected] (A.M.) * Correspondence: [email protected] Simple Summary: “Blood group” or “blood type” refers to the blood group system comprising red blood cell antigens and a specific pattern. Many studies have characterized dog blood groups by the prevalence of the Dog Erythrocyte Antigen (DEA), Kai, and Dal antigens in different geographic areas and by using a variety of methods. Some pioneering studies on blood groups, upon which others were subsequently based, were conducted by Bowdler, Colling, and Hall in the 1970s and 1980s. Our results show that most relevant studies covered the European and American continents, and the methods used to identify DEA, Kai, and Dal groups evolved from 1999 to 2020, albeit without a single method based upon specificity and sensitivity. However, the existence of rapid commercial kits for the determination of the DEA 1 group makes this group the most widely used in clinical Citation: Mangiaterra, S.; Rossi, G.; practice. Through a systematic review, our aim was to illustrate the countries in the world where Antognoni, M.T.; Cerquetella, M.; different blood groups have been identified with reference to the different methods used and the Marchegiani, A.; Miglio, A.; prevalence of those groups among dog breeds. -
Questions in a Case of Suspected HDFN with Maternal Anti-Vel Reported
Questions in a case of suspected HDFN with maternal anti-Vel reported Karen Rubio MT(ASCP)SBBcm Children’s Mercy Hospital Transfusion Services Laboratory Lead Technologist © The Children's Mercy Hospital 2017 1 Objectives • Review Vel | Cellano | ISBT definitions • Review of data for this case and discuss the problems • A surprise conversation 2 The “not so” usual admission • The call to evening shift • The outside Bombshell maternal results. • Pathologist on-call notified • Our results??? 3 Outside lab results Mom is R2r, O pos with anti-Vel identified in her plasma. Her phenotype at an outside facility was C-, E+, c+, e+; K+, k-; Fy(a+b+); Jk(a+-b+); M+, N- , S+, s+; Vel- Mom had a positive antibody screen with anti-Vel identified. Titers performed indicated an increase from 16 to 64 prior to delivery. 4 Outside lab results • Baby born at 39 weeks and weighed 2.96 Kg. • Meconium stained fluid noted. Apneic and floppy with agars of 2,4,7 with poor respiratory effort | Large abdomen noted with absent bowel sounds | Bronze pale skin | Thrombocytopenic | Possible sepsis with bandemia of 26% | HDFN | Hyperbilirubinemia and elevated liver enzymes | CHD | Persistent pulmonary hypertension | Generalized edema | Anemic with birth Hgb of 7 g/dL | Excessive umbilical bleeding during line insertion | CRP increasing from 0.37 to 2.32 • Cord Blood results – O pos with a negative DAT test • Transfusions – 3 syringes of Red Cells all from the same donor unit 3 syringes of platelets all from the same donor unit 2 syringes of plasma, both from the same