Annals of blood最新文献_第3页

RHD molecular analysis—from discovery to next generation sequencing RHD 分子分析--从发现到新一代测序

Annals of blood Pub Date : 2023-12-01 DOI: 10.21037/aob-22-41

Tracey E. Madgett, Wajnat A. Tounsi, A. J. Halawani, N. Avent

{"title":"RHD molecular analysis—from discovery to next generation sequencing","authors":"Tracey E. Madgett, Wajnat A. Tounsi, A. J. Halawani, N. Avent","doi":"10.21037/aob-22-41","DOIUrl":"https://doi.org/10.21037/aob-22-41","url":null,"abstract":": This review traces the evolution of RHD genotyping from the very early days of the discovery of Rh polypeptides in 1982, and the pioneering work of the late 1980s and early 1990s that made the whole approach of RH genotyping possible. This work is often overlooked in contemporary Rh literature with citations of reviews being used which often do not give the complete background story. We have attempted to rectify this here. This review focuses primarily on RHD genotyping, primarily because of space constraints not to include RHCE but also because RHD is of greater clinical significance. In Europe many countries offer routine non-invasive prenatal RHD screening to direct the use of prophylactic anti-D to mothers that require it-namely are carrying D-positive fetuses. The genotyping approach is empirical (and wisely so) and any potential variant identified in this process is treated as D-positive. In such cases although sometimes unnecessary administration of prophylactic anti-D may be given, it only reflects the situation that predated mass scale non-invasive testing, and many countries not offering RHD screening. The complexity of the RHD gene and the known plethora of D variants (partial, weak D-elute and multiple genetic mechanisms generating the D-negative phenotype) are explored but only inasmuch as the technology to detect them is discussed. By far the most powerful means of accurate RHD genotyping, so called gold standard testing is next-generation sequencing although our discussion is tempered by several caveats mainly involving the rapid bioinformatic determination of a D variant from its resultant sequence. We stress however that next generation sequencing (NGS) offers the substantial advantage over other conventional RHD genotyping strategies in that novel variants can be identified whereas other methods require that the variant has been previously described so as to direct sequence specific analysis.","PeriodicalId":72211,"journal":{"name":"Annals of blood","volume":"115 42","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138608116","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Serological analysis of Rh antigens: how far can we go? Rh 抗原血清学分析：我们能走多远？

Annals of blood Pub Date : 2023-12-01 DOI: 10.21037/aob-23-30

Veera Sekaran Nadarajan

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Predictive value of the lactate dehydrogenase-to-albumin ratio (LAR) in classical Hodgkin’s lymphoma 经典霍奇金淋巴瘤中乳酸脱氢酶与白蛋白比率 (LAR) 的预测价值

Annals of blood Pub Date : 2023-12-01 DOI: 10.21037/aob-23-24

Elba Nydia Reyes-Pérez, Lisette Maricruz Flores-Cuevas, Gustavo Martínez-Mier, Luis Eduardo Chávez-Güitrón, María Concepción Martínez-Jiménez, Martha Audelo-Guzmán, Jacqueline Calderón-García, J. M. Reyes-Ruiz

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Introductory preface of blood group genotyping 血型基因分型介绍序言

Annals of blood Pub Date : 2023-12-01 DOI: 10.21037/aob-2023-02

F. B. Clausen

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Frequencies of ABO and RhD blood groups among blood donors in Hong Kong 香港献血者的 ABO 和 RhD 血型频率

Annals of blood Pub Date : 2023-12-01 DOI: 10.21037/aob-23-6

Yun Wing Ng, Chi Yeung Tong, W. C. Tsoi, Cheuk Kwong Lee

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The importance of patient blood management for patients, providers and the public 患者血液管理对患者、医疗服务提供者和公众的重要性

Annals of blood Pub Date : 2023-12-01 DOI: 10.21037/aob-22-39

Colleen W. Gilstad, Jessica Poisson, Rounak Dubey, Sherry Shariatmadar, Melanie Jorgenson, R. Gammon

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RH genotyping by next-generation sequencing 通过新一代测序进行 RH 基因分型

Annals of blood Pub Date : 2023-12-01 DOI: 10.21037/aob-23-10

Aditi Khandelwal, Sandra Zittermann, Thomas Sierocinski, Celina Montemayor

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Elucidation of the molecular bases of the Rh system and its contribution to transfusion and obstetric medicine—historical and current perspective: a review 阐明 Rh 系统的分子基础及其对输血和产科医学的贡献--历史和当前视角：综述

Annals of blood Pub Date : 2023-12-01 DOI: 10.21037/aob-23-4

Carlos Cotorruelo

引用次数: 0

Atypical hemolytic uremic syndrome: genetically-based insights into pathogenesis through an analysis of the complement regulator CD46. 非典型溶血性尿毒症综合征:通过对补体调节因子CD46的分析来了解其发病机制

Annals of blood Pub Date : 2023-09-30 Epub Date: 2023-04-11 DOI: 10.21037/aob-22-40

Xiaobo Wu, M Kathryn Liszewski, Anuja Java, John P Atkinson

{"title":"Atypical hemolytic uremic syndrome: genetically-based insights into pathogenesis through an analysis of the complement regulator CD46.","authors":"Xiaobo Wu, M Kathryn Liszewski, Anuja Java, John P Atkinson","doi":"10.21037/aob-22-40","DOIUrl":"10.21037/aob-22-40","url":null,"abstract":"The complement system is a critical innate immune defense mechanism that also facilitates antigen recognition as well as antibody production through the adaptive immune response. Overall, complement activation contributes to the immune system's recognition and response to foreign pathogens and altered self. Regulating complement activation, particularly its powerful alternative pathway (AP) amplification loop, plays a key role in modulating tissue damage at sites of injury. Besides a predisposition to infections and autoimmunity (particularly systemic lupus erythematosus) in individuals deficient in activating components, variants in complement regulators are associated with multiple diseases including atypical hemolytic uremic syndrome (aHUS), paroxysmal nocturnal hemoglobinuria (PNH), and age-related macular degeneration (AMD). In particular, the pathogenesis of aHUS is commonly related to a rare heterozygous loss-of-function (LOF) mutation in the gene for complement factor H (CFH), CD46 [membrane cofactor protein (MCP)] or factor I (CFI) or a gain-of-function (GOF) secondary to a variant in factor B (CFB) or C3. The variants associated with complement regulators are the most prevalent and clearly demonstrate that cofactor activity (CA) is essential to control complement activation and thereby avoid collateral damage to normal tissues. Importantly, multiple studies have now established the therapeutic efficacy of blocking the membrane attack complex (MAC) with a humanized monoclonal antibody that targets the fifth component, C5. In this review, we primarily focus on insights derived from the assessment of rare variants in a membrane complement inhibitor CD46 in aHUS. We also discuss the putative pathological mechanisms relative to these variants of the complement system.","PeriodicalId":72211,"journal":{"name":"Annals of blood","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11824723/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47694388","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Immune thrombotic thrombocytopenic purpura: pathogenesis and novel therapies: a narrative review. 免疫性血栓性血小板减少性紫癜:发病机制和新疗法:叙述性回顾

Annals of blood Pub Date : 2023-09-30 Epub Date: 2023-01-06 DOI: 10.21037/aob-22-29

Szumam Liu, X Long Zheng

{"title":"Immune thrombotic thrombocytopenic purpura: pathogenesis and novel therapies: a narrative review.","authors":"Szumam Liu, X Long Zheng","doi":"10.21037/aob-22-29","DOIUrl":"10.21037/aob-22-29","url":null,"abstract":"Background and objectives: Immune thrombotic thrombocytopenic purpura (iTTP) is a rare, but potentially fatal blood disease, resulting from autoantibodies against A Disintegrin and Metalloprotease with ThromboSpondin Type 1 Repeats, 13 (ADAMTS13). While major progress has been made in past decades concerning early diagnosis and management of iTTP, the mechanisms underlying the formation and the mechanism of action of these autoantibodies against ADMATS13 are still unknown. This review will provide a narrative review of pathogenesis and novel therapeutics of iTTP.Methods: We did PubMed literature search using a combination of thrombotic thrombocytopenic purpura and treatment or pathogenesis from 1955 to November 2022. A total of 4,767 articles with full text were found and only relevant articles in English were further reviewed and summarized.Key content and findings: We found that the primary mechanism underlying severe ADAMTS13 deficiency in patients with iTTP is autoantibody-mediated inhibition and/or accelerated clearance of ADAMTS13 metalloprotease. Other factors including allosteric regulation and post-translational modifications (i.e., glycosylation and citrullination, and arginine methylation, etc.) may affect ADAMTS13 secretion and function and also contribute to the pathogenesis of iTTP. The standard of care for iTTP today consists of therapeutic plasma exchange, anti-von Willebrand factor (vWF) caplacizumab, and immunosuppressives (e.g., corticosteroids and rituximab), known as the triple therapy, which has significantly reduced exacerbation and mortality rates.Conclusions: We hope that the information provided in the review article helps better understand the pathogenesis of iTTP, which may guide design novel and more effective therapeutics for this potentially fatal disorder.","PeriodicalId":72211,"journal":{"name":"Annals of blood","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11296612/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44674704","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0