Transfusion Medicine and Hemotherapy最新文献

{"title":"Front & Back Matter","authors":"","doi":"10.1159/000529509","DOIUrl":"https://doi.org/10.1159/000529509","url":null,"abstract":"","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48005356","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Non-Invasive Zinc Protoporphyrin Screening Offers Opportunities for Secondary Prevention of Iron Deficiency in Blood Donors.","authors":"Anne Schliemann,&nbsp;Christian Homann,&nbsp;Georg Hennig,&nbsp;Alexander Lang,&nbsp;Lesca Miriam Holdt,&nbsp;Michael Vogeser,&nbsp;Ronald Sroka,&nbsp;Herbert Stepp,&nbsp;Franz Weinauer,&nbsp;Ernst-Markus Quenzel","doi":"10.1159/000528545","DOIUrl":"https://doi.org/10.1159/000528545","url":null,"abstract":"<p><strong>Background: </strong>Frequent blood donors are at high risk of developing iron deficiency. Currently, there is no potent screening during blood donation to detect iron deficient erythropoiesis (IDE) before anemia develops and deferral from donation is inevitable.</p><p><strong>Study design and methods: </strong>In addition to capillary and venous hemoglobin, the iron status of 99 frequent blood donors was assessed by various venous blood parameters and zinc protoporphyrin IX (ZnPP). ZnPP was determined by high-performance liquid chromatography (HPLC) and a new prototype fiber-optic device was employed for non-invasive measurements of ZnPP through the blood collection tubing (NI-tubing) and on lip tissue (NI-lip). We aimed to evaluate the feasibility and diagnostic value of the NI-tubing measurement for early detection of severe iron deficiency in blood donors.</p><p><strong>Results: </strong>NI-tubing and HPLC reference measurements of ZnPP showed narrow limits of agreement of 12.2 μmol ZnPP/mol heme and very high correlation (Spearman's Rho = 0.938). Using a cutoff of 65 μmol ZnPP/mol heme, NI-tubing measurements (<i>n</i> = 93) identified 100% of donors with iron deficiency anemia (IDA) and an additional 38% of donors with IDE. Accordingly, NI-tubing measurements would allow detection and selective protection of particularly vulnerable donors.</p><p><strong>Conclusion: </strong>NI-tubing measurements are an accurate and simple method to implement ZnPP determination into the routine blood donation process. ZnPP was able to identify the majority of subjects with IDE and IDA and might therefore be a valuable tool to provide qualified information to donors about dietary measures and adjustments of the donation interval and thereby help to prevent IDA and hemoglobin deferral in the future.</p>","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"50 4","pages":"303-312"},"PeriodicalIF":2.2,"publicationDate":"2023-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/0a/6f/tmh-0050-0303.PMC10521216.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41161613","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of Lutheran Blood Groups and Genetic Variants within <i>KLF1</i> among Thai Blood Donors.","authors":"Kamphon Intharanut,&nbsp;Piyathida Khumsuk,&nbsp;Oytip Nathalang","doi":"10.1159/000528654","DOIUrl":"https://doi.org/10.1159/000528654","url":null,"abstract":"<p><strong>Background: </strong>Lu^a and Lu^b are inherited as codominant allelic characters resulting from a single nucleotide variant (SNV) of the basal cell adhesion molecule (<i>BCAM</i>) gene. Red cells of the dominantly inherited suppressor of the Lutheran antigens In(Lu) phenotypically appear as Lu(a-b-) by the haemagglutination test. In(Lu) resulted from heterozygosity for mutations within the erythroid-specific Krüppel-like factor 1 (<i>KLF1</i>) gene. This study aimed to determine the frequency of the Lu(a) and Lu(b) phenotypes and genotypes and genetic variants of the distinct In(Lu) among Thai blood donors.</p><p><strong>Material and methods: </strong>Samples from 334 Thai donors were phenotyped with anti-Lu^a and anti-Lu^b. These DNA samples and an additional 1,370 donor DNA samples with unknown Lu(a)/Lu(b) phenotypes were genotyped using an in-house PCR-SSP. In the case of the three Lu(a-b-) donors, the <i>BCAM</i> and <i>KLF1</i> genes were analysed by PCR and sequencing.</p><p><strong>Results: </strong>A total of 331 of the 334 donors were Lu(a-b+), while the other observed phenotype, appearing as Lu(a-b-), was found among three donors. Of those three Lu(a-b-) donors with the <i>LU</i>*<i>02</i>/<i>02</i> genotype, we identified <i>KLF1</i> variant alleles, consisting of two variants: c.[304T>C, 1001C>G] and c.[304T>C, 519_525dupCGGCGCC], leading to the In(Lu) phenotype, and one homozygous variant (c.304T>C) mutation. Also, only one Thai donor was genotyped as <i>LU</i>*<i>01</i>/<i>02</i>, confirmed by serology test and DNA sequencing.</p><p><strong>Conclusion: </strong>In this study, we identified <i>KLF1</i> variants to be included in Lutheran typing analysis in Thai populations. Therefore, the application of genotyping and phenotyping methods has simultaneously been in use to screen and confirm the rare Lu(a+) and In(Lu) phenotypes.</p>","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"50 4","pages":"313-320"},"PeriodicalIF":2.2,"publicationDate":"2023-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/59/fd/tmh-0050-0313.PMC10521248.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41137757","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of Single Nucleotide Variants in Intron 1 of the ABO Gene as Diagnostic Markers for the A₁ Blood Group.","authors":"Peter Bugert,&nbsp;Gabi Rink,&nbsp;Harald Klüter","doi":"10.1159/000528683","DOIUrl":"https://doi.org/10.1159/000528683","url":null,"abstract":"<p><strong>Introduction: </strong>The molecular diagnosis of the A₁ blood group is based on the exclusion of <i>ABO</i> gene variants causing blood groups A₂, B, or O. A specific genetic marker for the A₁ blood group is still missing. Recently, long-read ABO sequencing revealed four sequence variations in intron 1 as promising markers for the <i>ABO</i>*<i>A1</i> allele. Here, we evaluated the diagnostic values of the 4 variants in blood donors with regular and weak A phenotypes and genotypes.</p><p><strong>Methods: </strong>ABO phenotype data (A, B, AB, or O) were taken from the blood donor files. The <i>ABO</i> genotypes (low resolution) were known from a previous study and included the variants c.261delG, c.802G>A, c.803G>C, and c.1061delC. <i>ABO</i> variant alleles (<i>ABO</i>*<i>AW.06,</i>*<i>AW.08,</i>*<i>AW.09,</i>*<i>AW.13</i>, *<i>AW.30</i>, and *<i>A3.02</i>) were identified in weak A donors by sequencing the <i>ABO</i> exons before. For genotyping of the <i>ABO</i> intron 1 variants rs532436, rs1554760445, rs507666, and rs2519093, we applied TaqMan assays with endpoint fluorescence detection according to a standard protocol. Genotypes of the variants were compared with the ABO phenotype and genotype. Evaluation of diagnostic performance included sensitivity, specificity, positive (PPV), and negative predictive value (NPV).</p><p><strong>Results: </strong>In 1,330 blood donors with regular ABO phenotypes and genotypes, the intron 1 variants were significantly associated with the proposed A₁ blood group. In 15 donors, we found discrepancies to the genotype of at least one of the 4 variants. For the diagnosis of the ABO*A1 allele, the variants showed 98.79-99.48% sensitivity, 99.66-99.81% specificity, 98.80-99.31% PPV, and 99.66-99.86% NPV. Regarding the A phenotype, the diagnostic values were 99.02-99.41% sensitivity, 99.63-99.76% specificity, 99.41-99.61% PPV, and 99.39-99.63% NPV. The *<i>A1</i> marker allele of all intron 1 variants was also associated with the *<i>AW.06</i>, *<i>AW.13</i>, and *<i>AW.30</i> variants. Samples with *<i>AW.08</i>, *<i>AW.09</i>, and *<i>A3.02</i> variants lacked this association.</p><p><strong>Conclusion: </strong>The <i>ABO</i> intron 1 variants revealed significant association with the <i>ABO</i>*<i>A1</i> allele and the A phenotype. However, the intron 1 genotype does not exclude variant alleles causing weak A phenotypes. With the introduction of reliable tag, single nucleotide variants for the A₁, A₂, B, and O blood groups and the genotyping instead of phenotyping of the ABO blood group are getting more feasible on a routine basis.</p>","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"50 4","pages":"263-269"},"PeriodicalIF":2.2,"publicationDate":"2023-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/be/85/tmh-0050-0263.PMC10521232.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41150407","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"PharmaNews","authors":"","doi":"10.1159/000533127","DOIUrl":"https://doi.org/10.1159/000533127","url":null,"abstract":"","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"12 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135947890","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hämophilie A bei Säuglingen: Effektive Prophylaxe","authors":"","doi":"10.1159/000534222","DOIUrl":"https://doi.org/10.1159/000534222","url":null,"abstract":"mophilie A ist der frühe Einsatz einer effektiven Prophylaxe von besonderer Bedeutung. Bei Neugeborenen und Kindern mit schwerer Hämophilie A unter 2 Jahren gehören Weichteilund intramuskuläre Blutungen, mukokutane sowie extrakranielle Blutungen und Blutungen im Zusammenhang mit einem medizinischen Eingriff zu den häufigsten Blutungsarten [2, 3]. Zudem ist das Risiko für Blutungskomplikationen, wie inWird bei einem Säugling Hämophilie A diagnostiziert, ist nichts mehr so wie vorher. Um ein möglichst normales Leben mit einer hohen Lebensqualität zu gewährleisten, ist es daher wichtig, Blutungen und deren Konsequenzen effektiv vorzubeugen. Aktuelle Daten bestätigen für Emicizumab (Hemlibra®) nun die effektive und sichere Anwendung auch bei Säuglingen [1]. Zudem bieten lange Applikationsintervalle von bis zu 4 Wochen Entlastung im Alltag. trakranielle Blutungen, um das 10-fache erhöht [4]. Rund ein Drittel der Kinder mit intrakraniellen Blutungen leidet unter langfristigen Folgen wie geistigen Einschränkungen, Verhaltensproblemen, Parese oder Epilepsie [4]. Allerdings konnte auch gezeigt werden, dass Kinder, die eine regelmäßige Blutungsprophylaxe erhalten, im Vergleich zu Kindern ohne Prophylaxe ein deutlich geringeres Risiko für intrakranielle Blutungen aufweisen [4].","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"31 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135051831","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"PharmaNews","authors":"","doi":"10.1159/000534097","DOIUrl":"https://doi.org/10.1159/000534097","url":null,"abstract":"","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"92 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135051823","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-Read Sequencing in Blood Group Genetics","authors":"Gian Andri Thun, Morgan Gueuning, Maja Mattle-Greminger","doi":"10.1159/000530652","DOIUrl":"https://doi.org/10.1159/000530652","url":null,"abstract":"Background: The key advantages of latest third-generation long-read sequencing (TGS) technologies include the ability to resolve long haplotypes and to characterize genomic regions that are challenging to analyze with short-read sequencing. Recent advancements in TGS technologies have significantly improved accuracy, a crucial requirement for the transition from research to diagnostic applications. Summary: In the field of immunohematology, the adoption of TGS is still in its early stages and published applications are scarce. An undeniable utility of TGS in blood group genomics is the ability to resolve ambiguous genotype-phenotype blood group results. In particular, hybrid genes and other large structural variants, as commonly found in the RHD/CE and MNS blood group systems, cause such discrepant results that can hardly be resolved by conventional methods. Long-read sequencing also greatly aids to generate high-standard reference alleles, establish haplotype sequence databases, or could even serve for high-resolution genotyping of all blood groups in parallel. Additionally, TGS holds the potential to close important knowledge gaps in blood group transcriptomics and epigenetics. Key Messages: The aims of this review were to examine the prospects of TGS technologies within the field of immunohematology and to highlight practical applications. Furthermore, we present a comprehensive overview of the existing and emerging wet-laboratory strategies for data generation, as well as a summary on bioinformatic data analysis methods. Finally, we provide an outlook on anticipated advancements in the near future.","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"31 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135051834","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"PharmaNews","authors":"","doi":"10.1159/000531214","DOIUrl":"https://doi.org/10.1159/000531214","url":null,"abstract":"","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"1 1","pages":""},"PeriodicalIF":2.2,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65304012","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Front & Back Matter","authors":"","doi":"10.1159/000531713","DOIUrl":"https://doi.org/10.1159/000531713","url":null,"abstract":"","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":"1 1","pages":""},"PeriodicalIF":2.2,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65304444","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}