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Biomedicines
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Advances in Molecular Diagnostics of Transfusion Medicine
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Advances in Molecular Diagnostics of Transfusion Medicine

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".

Deadline for manuscript submissions: closed (30 June 2024) | Viewed by 13209

Special Issue Editor

Dr. Tracey Madgett

E-Mail Website
Guest Editor
School of Biomedical Sciences, Faculty of Health, University of Plymouth, Plymouth PL4 8AA, UK
Interests: blood group genotyping; non-invasive prenatal testing; molecular diagnostics; RHD genetics

Special Issue Information

Dear Colleagues,

Molecular diagnostics can greatly aid in the safe supply of blood and blood components in transfusion settings.  The determination of reference DNA sequences for humans and pathogens has led to the incorporation of molecular diagnostic approaches in everything from blood group genotyping to nucleic acid testing of blood products for infectious diseases.  There are currently 43 blood group systems where the genes have been cloned and sequenced, allowing the molecular bases associated with most antigens to be determined.  Knowing the molecular basis of these blood group systems then opens the door to apply molecular diagnostic techniques to be able to detect variants.  DNA microarrays and next generation sequencing studies have paved the way for blood group genotyping.  Recent studies have reported how cutting-edge single molecule sequencing can detect variants in blood group alleles.  Molecular diagnostics for blood group genotyping can also identify risk of haemolytic disease of the fetus and newborn in prenatal testing.  This Special Issue welcomes original articles and reviews focused on new molecular diagnostic approaches to blood group genotyping and the process of safely supplying blood to patients.

Potential topics include but are not limited to:

  • Next generation sequencing of novel blood group alleles
  • Single molecule sequencing of novel blood group alleles
  • Novel molecular assays for blood grouping
  • High throughput techniques for ensuring safe supply of blood to patients
  • Fetal blood group genotyping

Dr. Tracey Madgett
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Biomedicines is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • next generation sequencing
  • single molecule sequencing
  • blood group genotyping
  • molecular diagnostics
  • transfusion medicine
  • blood group alleles
  • non-invasive prenatal blood group genotyping
  • free fetal DNA

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Published Papers (5 papers)

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Research

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11 pages, 1680 KiB  
Article
Evaluation of the LightCycler® PRO Instrument as a Platform for Rhesus D Typing
by Helene Polin, Barbara Wenighofer, Nina Polonyi and Martin Danzer
Biomedicines 2024, 12(8), 1785; https://doi.org/10.3390/biomedicines12081785 - 6 Aug 2024
Viewed by 914
Abstract
Rapid and reliable Rhesus D typing is crucial for blood donation centers. In instances of massive blood transfusion or reduced antigen expression, DNA-based phenotype prediction becomes mandatory. Our molecular RHD typing approach involves an initial real-time PCR for the most common aberrant RHD [...] Read more.
Rapid and reliable Rhesus D typing is crucial for blood donation centers. In instances of massive blood transfusion or reduced antigen expression, DNA-based phenotype prediction becomes mandatory. Our molecular RHD typing approach involves an initial real-time PCR for the most common aberrant RHD types in our region, RHD*01W.1 (weak D type 1), RHD*01W.2 (weak D type 2), RHD*01W.3 (weak D type 3), and RHD*07.01 (DVII). For comprehensive coverage, Sanger sequencing of RHD coding regions is performed in the case of PCR target-negative results. We evaluated the specificity and accuracy of these methods using the recently launched LightCycler® PRO real-time platform. All findings demonstrated remarkable accuracy. Notably, the LightCycler® PRO instrument offers a distinct advantage in data interpretation and integration via the HL7 interface. This study underlines the importance of including advanced molecular techniques in blood typing protocols, especially in scenarios where conventional serological methods may be insufficient. Full article
(This article belongs to the Special Issue Advances in Molecular Diagnostics of Transfusion Medicine)
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12 pages, 4309 KiB  
Article
Characterization of Novel RHD Allele Variants and Their Implications for Routine Blood Group Diagnostics
by Eva M. Matzhold, Maria Bemelmans, Helene Polin, Günther F. Körmöczi, Marlies Schönbacher and Thomas Wagner
Biomedicines 2024, 12(2), 456; https://doi.org/10.3390/biomedicines12020456 - 18 Feb 2024
Cited by 2 | Viewed by 3188
Abstract
The Rh system, including the highly immunogenic D antigen, is one of the clinically most important blood group systems in transfusion medicine. Numerous alleles of the RHD gene are associated with variant RhD phenotypes. In case of Rh incompatibility, some of them can [...] Read more.
The Rh system, including the highly immunogenic D antigen, is one of the clinically most important blood group systems in transfusion medicine. Numerous alleles of the RHD gene are associated with variant RhD phenotypes. In case of Rh incompatibility, some of them can induce hemolytic transfusion reactions and hemolytic disease of the fetus and newborn. Thus, accurate blood group diagnostics are critical for safe transfusion therapy. We characterized phenotypes of four individuals revealing weakened D expression during routine pre-transfusion testing. Standard gel card matrix techniques with monoclonal and polyclonal anti-D antibodies were used for serological typing, complemented using D epitope and antigen density analysis. Genotyping employing PCR with sequence-specific primers, genomic and allele-specific Sanger sequencing and in silico protein analysis were performed. Four novel RHD alleles associated with weak D or partial D phenotypes were identified. One of the mutations is predicted to disrupt the terminal stop codon and result in an elongated translation of the mutant D protein that phenotypically exhibits a loss of D epitopes. Furthermore, a hybrid gene formed with the homologue RHCE gene is described. The presented data enhances the understanding of the Rh system and may contribute to continued advances in blood group diagnostics. Full article
(This article belongs to the Special Issue Advances in Molecular Diagnostics of Transfusion Medicine)
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12 pages, 1875 KiB  
Article
Resolving Genotype–Phenotype Discrepancies of the Kidd Blood Group System Using Long-Read Nanopore Sequencing
by Morgan Gueuning, Gian Andri Thun, Nadine Trost, Linda Schneider, Sonja Sigurdardottir, Charlotte Engström, Naemi Larbes, Yvonne Merki, Beat M. Frey, Christoph Gassner, Stefan Meyer and Maja P. Mattle-Greminger
Biomedicines 2024, 12(1), 225; https://doi.org/10.3390/biomedicines12010225 - 19 Jan 2024
Cited by 3 | Viewed by 2292
Abstract
Due to substantial improvements in read accuracy, third-generation long-read sequencing holds great potential in blood group diagnostics, particularly in cases where traditional genotyping or sequencing techniques, primarily targeting exons, fail to explain serological phenotypes. In this study, we employed Oxford Nanopore sequencing to [...] Read more.
Due to substantial improvements in read accuracy, third-generation long-read sequencing holds great potential in blood group diagnostics, particularly in cases where traditional genotyping or sequencing techniques, primarily targeting exons, fail to explain serological phenotypes. In this study, we employed Oxford Nanopore sequencing to resolve all genotype–phenotype discrepancies in the Kidd blood group system (JK, encoded by SLC14A1) observed over seven years of routine high-throughput donor genotyping using a mass spectrometry-based platform at the Blood Transfusion Service, Zurich. Discrepant results from standard serological typing and donor genotyping were confirmed using commercial PCR-SSP kits. To resolve discrepancies, we amplified the entire coding region of SLC14A1 (~24 kb, exons 3 to 10) in two overlapping long-range PCRs in all samples. Amplicons were barcoded and sequenced on a MinION flow cell. Sanger sequencing and bridge-PCRs were used to confirm findings. Among 11,972 donors with both serological and genotype data available for the Kidd system, we identified 10 cases with unexplained conflicting results. Five were linked to known weak and null alleles caused by variants not included in the routine donor genotyping. In two cases, we identified novel null alleles on the JK*01 (Gly40Asp; c.119G>A) and JK*02 (Gly242Glu; c.725G>A) haplotypes, respectively. Remarkably, the remaining three cases were associated with a yet unknown deletion of ~5 kb spanning exons 9–10 of the JK*01 allele, which other molecular methods had failed to detect. Overall, nanopore sequencing demonstrated reliable and accurate performance for detecting both single-nucleotide and structural variants. It possesses the potential to become a robust tool in the molecular diagnostic portfolio, particularly for addressing challenging structural variants such as hybrid genes, deletions and duplications. Full article
(This article belongs to the Special Issue Advances in Molecular Diagnostics of Transfusion Medicine)
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10 pages, 578 KiB  
Article
Fetal RHD Screening in RH1 Negative Pregnant Women: Experience in Switzerland
by Bernd Schimanski, Rahel Kräuchi, Jolanda Stettler, Sofia Lejon Crottet, Christoph Niederhauser, Frederik Banch Clausen, Stefano Fontana, Markus Hodel, Sofia Amylidi-Mohr, Luigi Raio, Claire Abbal and Christine Henny
Biomedicines 2023, 11(10), 2646; https://doi.org/10.3390/biomedicines11102646 - 27 Sep 2023
Cited by 3 | Viewed by 1941
Abstract
RH1 incompatibility between mother and fetus can cause hemolytic disease of the fetus and newborn. In Switzerland, fetal RHD genotyping from maternal blood has been recommended from gestational age 18 onwards since the year 2020. This facilitates tailored administration of RH immunoglobulin (RHIG) [...] Read more.
RH1 incompatibility between mother and fetus can cause hemolytic disease of the fetus and newborn. In Switzerland, fetal RHD genotyping from maternal blood has been recommended from gestational age 18 onwards since the year 2020. This facilitates tailored administration of RH immunoglobulin (RHIG) only to RH1 negative women carrying a RH1 positive fetus. Data from 30 months of noninvasive fetal RHD screening is presented. Cell-free DNA was extracted from 7192 plasma samples using a commercial kit, followed by an in-house qPCR to detect RHD exons 5 and 7, in addition to an amplification control. Valid results were obtained from 7072 samples, with 4515 (64%) fetuses typed RHD positive and 2556 (36%) fetuses being RHD negative. A total of 120 samples led to inconclusive results due to the presence of maternal or fetal RHD variants (46%), followed by women being serologically RH1 positive (37%), and technical issues (17%). One sample was typed false positive, possibly due to contamination. No false negative results were observed. We show that unnecessary administration of RHIG can be avoided for more than one third of RH1 negative pregnant women in Switzerland. This reduces the risks of exposure to a blood-derived product and conserves this limited resource to women in actual need. Full article
(This article belongs to the Special Issue Advances in Molecular Diagnostics of Transfusion Medicine)
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Review

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13 pages, 2570 KiB  
Review
Identification and Diagnosis of Complete Haptoglobin Gene Deletion, One of the Genes Responsible for Adverse Posttransfusion Reactions
by Mikiko Soejima and Yoshiro Koda
Biomedicines 2024, 12(4), 790; https://doi.org/10.3390/biomedicines12040790 - 3 Apr 2024
Cited by 1 | Viewed by 3515
Abstract
Allergic reactions are the most frequent adverse events in blood transfusion, and anaphylactic shock, although less frequent, is systemic and serious. The cause of allergic reactions to blood transfusions are largely unknown, but deficiencies in serum proteins such as haptoglobin (Hp) can lead [...] Read more.
Allergic reactions are the most frequent adverse events in blood transfusion, and anaphylactic shock, although less frequent, is systemic and serious. The cause of allergic reactions to blood transfusions are largely unknown, but deficiencies in serum proteins such as haptoglobin (Hp) can lead to anaphylactic shock. A complete deletion of the haptoglobin gene (HPdel) was first identified in families with anomalous inheritance and then verified as a genetic variant that can cause anaphylactic shock because homozygotes for HPdel have complete Hp deficiency. Thereby, they may produce antibodies against Hp from blood transfusions. HPdel is found in East and Southeast Asian populations, with a frequency of approximately 0.9% to 4%, but not in other populations. Diagnosis of Hp deficiency due to HPdel prior to transfusion is advisable because severe adverse reactions can be prevented by washing the red blood cells and/or platelets with saline or by administering plasma products obtained from an Hp-deficient donor pool. This review outlines the background of the identification of HPdel and several genetic and immunological methods developed for diagnosing Hp deficiency caused by HPdel. Full article
(This article belongs to the Special Issue Advances in Molecular Diagnostics of Transfusion Medicine)
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