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Phenotyping and Genotyping of HNA: Prevalence, Risk of Alloimmunization, and HNA Incompatibilities in Indians. HNA的表型和基因分型:印度人的患病率、同种异体免疫风险和HNA不相容。
IF 2.2 4区 医学
Transfusion Medicine and Hemotherapy Pub Date : 2023-02-01 DOI: 10.1159/000525654
Harita Gogri, Meghana Parihar, Swati Kulkarni, Manisha Madkaikar, Jayashree Sharma, Ajit Gorakshakar
{"title":"Phenotyping and Genotyping of HNA: Prevalence, Risk of Alloimmunization, and HNA Incompatibilities in Indians.","authors":"Harita Gogri,&nbsp;Meghana Parihar,&nbsp;Swati Kulkarni,&nbsp;Manisha Madkaikar,&nbsp;Jayashree Sharma,&nbsp;Ajit Gorakshakar","doi":"10.1159/000525654","DOIUrl":"https://doi.org/10.1159/000525654","url":null,"abstract":"<p><strong>Background: </strong>Antibodies to human neutrophil alloantigens (HNA) are involved in the pathophysiology of several clinical conditions including transfusion-related acute lung injury (TRALI), alloimmune and autoimmune neutropenia, and febrile nonhemolytic transfusion reactions leading to neutropenia. The cognate antigens are polymorphic structures expressed on several glycoproteins on the neutrophils, i.e., antigens HNA-1a, -1b, -1c, and -1d on Fc-γ-receptor IIIb; HNA-2 on CD177; HNA-3a and -3b on choline transporter-like protein 2; HNA-4a and -4b on CD11b/αM subunit of the αMβ2-integrin (CD11b/CD18, Mac-1, CR3); and HNA-5a and -5b on αL-subunit (CD11a) of the αLβ2 integrin (CD11a/CD18), leukocyte function associated molecule (LFA)-1. Currently, there is a lacuna of diagnostic methods for detection of HNA in India. This study aimed to determine the HNA frequencies in Indians, estimate the risk of alloimmunization, and prepare typed neutrophil panels, which can be used to detect HNA antibodies in neutropenia cases.</p><p><strong>Material and methods: </strong>EDTA blood samples were collected from random 1,054 blood donors. HNA-2 was phenotyped on fresh EDTA samples using FITC labelled monoclonal anti-CD177 by flowcytometry. HNA-1 (<i>FCGR3B</i>) genotyping was carried out by DNA sequencing and PCR-RFLP. Antigens of HNA-3 (<i>SLC44A2</i>) and HNA-5 (<i>ITGAL</i>) were genotyped by PCR-RFLP using <i>TaqαI</i> and <i>Bsp1286I</i> restriction enzymes, respectively, while HNA-4 (<i>ITGAM</i>) was genotyped by PCR-SSP.</p><p><strong>Results: </strong>Allele frequencies of <i>FCGR3B</i>*<i>01</i>, <i>FCGR3B</i>*<i>02</i>, and <i>FCGR3B</i>*<i>03</i> were found to be 0.433, 0.444, and 0.087, respectively. FCGR3B*01+*02+*03- was the most common genotype (33.78%). Ten individuals showed deficiency of FCGR3B individuals, while 23 showed hyperexpression, i.e., <i>FCGR3B</i>*<i>01+</i>*<i>02+</i>*<i>03+</i>. <i>FCGR3B</i>*<i>04</i>and *<i>05</i> occurred with a frequency of 0.002 and 0.024. HNA-2 was found to be a high frequency antigen occurring in 98.8% population. Four percent individuals showed atypical expression of CD177 on their neutrophils. Allele frequencies of <i>SLC44A2</i>*<i>01</i> and <i>SLC44A2</i>*<i>02</i>were 0.812 and 0.188, respectively, and that of <i>ITGAM</i>*<i>01</i>, <i>ITGAM</i>*<i>02</i>, <i>ITGAL</i>*<i>01</i>, and <i>ITGAL</i>*<i>02</i> were 0.9546, 0.0454, 0.2372, and 0.7628, respectively.</p><p><strong>Conclusion: </strong>This is the first study in India to report the frequencies of HNA among blood donors. Typed neutrophil panels identified in the present study will enable us to investigate suspected cases of immune neutropenia in future.</p>","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a2/3a/tmh-0050-0030.PMC9911994.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10756726","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}
引用次数: 1
Non-Invasive Zinc Protoporphyrin Screening Offers Opportunities for Secondary Prevention of Iron Deficiency in Blood Donors. 非侵入性锌原卟啉筛查为献血者缺铁的二次预防提供了机会。
IF 2.2 4区 医学
Transfusion Medicine and Hemotherapy Pub Date : 2023-01-24 eCollection Date: 2023-08-01 DOI: 10.1159/000528545
Anne Schliemann, Christian Homann, Georg Hennig, Alexander Lang, Lesca Miriam Holdt, Michael Vogeser, Ronald Sroka, Herbert Stepp, Franz Weinauer, Ernst-Markus Quenzel
{"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":null,"pages":null},"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}
引用次数: 0
Identification of Lutheran Blood Groups and Genetic Variants within KLF1 among Thai Blood Donors. 泰国献血者中路德会血型和KLF1基因变异的鉴定。
IF 2.2 4区 医学
Transfusion Medicine and Hemotherapy Pub Date : 2023-01-18 eCollection Date: 2023-08-01 DOI: 10.1159/000528654
Kamphon Intharanut, Piyathida Khumsuk, Oytip Nathalang
{"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<sup>a</sup> and Lu<sup>b</sup> 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<sup>a</sup> and anti-Lu<sup>b</sup>. 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":null,"pages":null},"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}
引用次数: 1
Evaluation of Single Nucleotide Variants in Intron 1 of the ABO Gene as Diagnostic Markers for the A1 Blood Group. 评估ABO基因内含子1中的单核苷酸变体作为A1血型的诊断标记。
IF 2.2 4区 医学
Transfusion Medicine and Hemotherapy Pub Date : 2023-01-18 eCollection Date: 2023-08-01 DOI: 10.1159/000528683
Peter Bugert, Gabi Rink, Harald Klüter
{"title":"Evaluation of Single Nucleotide Variants in Intron 1 of the ABO Gene as Diagnostic Markers for the A<sub>1</sub> 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 A<sub>1</sub> blood group is based on the exclusion of <i>ABO</i> gene variants causing blood groups A<sub>2</sub>, B, or O. A specific genetic marker for the A<sub>1</sub> 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 A<sub>1</sub> 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 A<sub>1</sub>, A<sub>2</sub>, 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":null,"pages":null},"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}
引用次数: 0
The Impact of Prepartum Platelet Count on Postpartum Blood Loss and Its Association with Coagulation Factor XIII Activity. 产前血小板计数对产后失血量的影响及其与凝血因子 XIII 活性的关系
IF 1.9 4区 医学
Transfusion Medicine and Hemotherapy Pub Date : 2023-01-18 eCollection Date: 2023-02-01 DOI: 10.1159/000529020
Romana Brun, Torsten Hothorn, Eva Eigenmann, Marie Louise Frevert, Roland Zimmermann, Wolfgang Korte, Christian Haslinger
{"title":"The Impact of Prepartum Platelet Count on Postpartum Blood Loss and Its Association with Coagulation Factor XIII Activity.","authors":"Romana Brun, Torsten Hothorn, Eva Eigenmann, Marie Louise Frevert, Roland Zimmermann, Wolfgang Korte, Christian Haslinger","doi":"10.1159/000529020","DOIUrl":"10.1159/000529020","url":null,"abstract":"<p><strong>Background: </strong>Postpartum hemorrhage is a leading cause of maternal morbidity and mortality worldwide. Contradictory information exists regarding the relevance of prepartum platelet count on postpartum hemorrhage. We have shown prepartum coagulation factor XIII to be associated with postpartum blood loss; however, little is known about the association of platelet count with factor XIII activity. Our objectives were, first, to evaluate the impact of prepartum platelet count on measured postpartum blood loss in the context of prepartum measurements of coagulation factors I, II, and XIII and, second, to evaluate the association of platelet count with coagulation factor XIII, both pre- and postpartum.</p><p><strong>Material and methods: </strong>This is a secondary analysis of a prospective cohort study (PPH 1,300 study) which analyzed the impact of prepartum blood coagulation factors on postpartum blood loss in 1,300 women. Blood loss was quantified using a validated technique. The impact of prepartum platelet count on measured blood loss was assessed by continuous outcome logistic regression; the association of platelet count with factor XIII activity by Spearman rank correlation.</p><p><strong>Results: </strong>Prepartum platelet count was significantly associated with measured postpartum blood loss: every one unit (G/L) increase in prepartum thrombocytes was associated with an odds ratio of 1.002 (95% confidence interval, 1.001-1.004, <i>p</i> = 0.005) to keep blood loss below any given cut-off level. This means that the probability of postpartum hemorrhage decreases with increasing prepartum platelet levels. Moreover, a significant association of platelet count with factor XIII activity was shown (Spearman rank correlation coefficient for prepartum values 0.228, <i>p</i> < 0.001, and for postpartum values 0.293, <i>p</i> < 0.001).</p><p><strong>Discussion/conclusion: </strong>The significant association of prepartum platelet count and postpartum blood loss as well as the association of platelet count with blood coagulation factor XIII activity support the likely role of platelets in preventing postpartum hemorrhage and support the new guidelines for the treatment of postpartum hemorrhage in Germany, Austria, and Switzerland, which calls for optimizing platelet counts peripartally in case of postpartum hemorrhage. A possible effect of platelets on the level of circulating factor XIII cannot be ruled out and should prompt further investigation.</p>","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9911997/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10763922","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}
引用次数: 0
PharmaNews 医药新闻
4区 医学
Transfusion Medicine and Hemotherapy Pub Date : 2023-01-01 DOI: 10.1159/000533127
{"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":null,"pages":null},"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}
引用次数: 0
Hämophilie A bei Säuglingen: Effektive Prophylaxe 婴儿血友病 A:有效预防
4区 医学
Transfusion Medicine and Hemotherapy Pub Date : 2023-01-01 DOI: 10.1159/000534222
{"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":null,"pages":null},"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}
引用次数: 0
PharmaNews 医药新闻
4区 医学
Transfusion Medicine and Hemotherapy Pub Date : 2023-01-01 DOI: 10.1159/000534097
{"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":null,"pages":null},"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}
引用次数: 0
Long-Read Sequencing in Blood Group Genetics 血型遗传学中的长读测序
4区 医学
Transfusion Medicine and Hemotherapy Pub Date : 2023-01-01 DOI: 10.1159/000530652
Gian Andri Thun, Morgan Gueuning, Maja Mattle-Greminger
{"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":null,"pages":null},"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}
引用次数: 2
PharmaNews PharmaNews
IF 2.2 4区 医学
Transfusion Medicine and Hemotherapy Pub Date : 2023-01-01 DOI: 10.1159/000531214
{"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":null,"pages":null},"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}
引用次数: 0
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