Pub Date : 2023-08-14DOI: 10.3389/frhem.2023.1234726
Hui-juan Zhang, Xiao-Mei Hu, De-Dong Liu
Thalassemia is a heterogeneous group of genetic disorders affecting the hemoglobin genes leading to decrease synthesis of globin chains of hemoglobin and resulting in ineffective erythropoiesis. It usually contains α- and β-thalassemia, most of common mutation types of which can be detected. However, it’s inclined to miss rare thalassemia mutation types. Here, we analyzed the molecular and hematological characteristics of seven cases with rare β-thalassemia -90 (C>T) (HBB: c.-140 C>T) mutation. Five of them carried β-90 (C>T) heterozygous mutation with a β+ thalassemia trait. One case was αSEA/β-90 genotype with decreasing MCV and MCH obviously, and the other was a β+/β0 intermediate thalassemia patient with β-90/βCD17 genotype, presenting with moderate anemia. A pedigree of one case was analyzed subsequently. It was found that the proband’s maternal grandfather and mother were carriers of α3.7/β-90 double heterozygous thalassemia, who presented that MCV and MCH were decreased normally or slightly, and HbA2 was increased. The proband and his aunt were β-90 (C>T) carriers. It’s necessary to point that the MCV and MCH were much higher in carrier of α3.7/β-90 genotype compared with either αSEA/β-90 genotype or β-90 heterozygous mutation. In this study, we explore the genotypes and phenotypes of four diverse β-90、αSEA/β-90、α3.7/β-90、β-90/βCD17 thalassemia mutations, which enriches the gene profile of β-thalassemia mutation in Chinese population.
地中海贫血是一种影响血红蛋白基因的异质性遗传疾病，导致血红蛋白珠蛋白链合成减少，导致红细胞生成无效。它通常含有α-和β-地中海贫血，其中大多数常见的突变类型都可以检测到。然而，它倾向于忽略罕见的地中海贫血突变类型。本文分析了7例罕见β-地中海贫血-90 (C>T) (HBB: C -140 C>T)突变的分子和血液学特征。其中5例携带β-90 (C>T)杂合突变，具有β+地中海贫血性状。1例为αSEA/β-90基因型，MCV和MCH明显降低;1例为β+/β0型，β-90/β cd17基因型，表现为中度贫血。随后分析了1例病例的家系。先证者的外祖父和母亲均为α3.7/β-90双杂合型地中海贫血的携带者，MCV和MCH正常或轻度降低，HbA2升高。先证者及其姑母均为β-90 (C>T)携带者。需要指出的是，α3.7/β-90基因型携带者的MCV和MCH均高于αSEA/β-90基因型携带者和β-90杂合突变携带者。本研究对β-90、αSEA/β-90、α3.7/β-90、β-90/βCD17四种地中海贫血突变的基因型和表型进行了研究，丰富了中国人群中β-地中海贫血突变的基因谱。
{"title":"The research for various genotypes and phenotypes related to rare -90 (C>T) β-thalassemia mutation in Ganzhou city, Southern China","authors":"Hui-juan Zhang, Xiao-Mei Hu, De-Dong Liu","doi":"10.3389/frhem.2023.1234726","DOIUrl":"https://doi.org/10.3389/frhem.2023.1234726","url":null,"abstract":"Thalassemia is a heterogeneous group of genetic disorders affecting the hemoglobin genes leading to decrease synthesis of globin chains of hemoglobin and resulting in ineffective erythropoiesis. It usually contains α- and β-thalassemia, most of common mutation types of which can be detected. However, it’s inclined to miss rare thalassemia mutation types. Here, we analyzed the molecular and hematological characteristics of seven cases with rare β-thalassemia -90 (C>T) (HBB: c.-140 C>T) mutation. Five of them carried β-90 (C>T) heterozygous mutation with a β+ thalassemia trait. One case was αSEA/β-90 genotype with decreasing MCV and MCH obviously, and the other was a β+/β0 intermediate thalassemia patient with β-90/βCD17 genotype, presenting with moderate anemia. A pedigree of one case was analyzed subsequently. It was found that the proband’s maternal grandfather and mother were carriers of α3.7/β-90 double heterozygous thalassemia, who presented that MCV and MCH were decreased normally or slightly, and HbA2 was increased. The proband and his aunt were β-90 (C>T) carriers. It’s necessary to point that the MCV and MCH were much higher in carrier of α3.7/β-90 genotype compared with either αSEA/β-90 genotype or β-90 heterozygous mutation. In this study, we explore the genotypes and phenotypes of four diverse β-90、αSEA/β-90、α3.7/β-90、β-90/βCD17 thalassemia mutations, which enriches the gene profile of β-thalassemia mutation in Chinese population.","PeriodicalId":101407,"journal":{"name":"Frontiers in hematology","volume":"20 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115426536","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}
Pub Date : 2023-08-10DOI: 10.3389/frhem.2023.1191178
M. Andreescu
Immune thrombocytopenia (ITP) manifests as depleted platelet reserves, primarily due to the immune-mediated destruction of platelets. The pathogenesis of ITP is complex and involves dysregulation of the immune system. This review aimed to summarize the current knowledge of the cytokine profile in ITP and its potential implications for diagnosis, treatment, and prognosis. Several studies have reported that ITP patients have an altered cytokine profile from that of healthy individuals. Specifically, there is evidence of an imbalance of pro-inflammatory (interleukin (IL)-6, tumor necrosis factor (TNF)-α, interferon (IFN)-γ) and anti-inflammatory cytokines (IL-10, TGF-β). The cytokine profile in ITP appears to be heterogeneous, with different patterns observed in different subsets of patients. For example, some studies have reported a Th1-type cytokine profile, characterized by elevated levels of IFN-γ and TNF-α, while others have reported a Th2-type cytokine profile, characterized by elevated levels of IL-4 and IL-10. There is also evidence of a shift from a Th1 to a Th2 cytokine profile in some patients over time. The cytokine profile in ITP may have important implications for diagnosis, treatment, and prognosis. Targeting specific cytokines or cytokine pathways may also represent a promising therapeutic approach for ITP. Further studies are needed to better understand the heterogeneity of the cytokine profile in ITP and its potential implications for clinical management.
{"title":"The link between immune thrombocytopenia and the cytokine profile: a bridge to new therapeutical targets","authors":"M. Andreescu","doi":"10.3389/frhem.2023.1191178","DOIUrl":"https://doi.org/10.3389/frhem.2023.1191178","url":null,"abstract":"Immune thrombocytopenia (ITP) manifests as depleted platelet reserves, primarily due to the immune-mediated destruction of platelets. The pathogenesis of ITP is complex and involves dysregulation of the immune system. This review aimed to summarize the current knowledge of the cytokine profile in ITP and its potential implications for diagnosis, treatment, and prognosis. Several studies have reported that ITP patients have an altered cytokine profile from that of healthy individuals. Specifically, there is evidence of an imbalance of pro-inflammatory (interleukin (IL)-6, tumor necrosis factor (TNF)-α, interferon (IFN)-γ) and anti-inflammatory cytokines (IL-10, TGF-β). The cytokine profile in ITP appears to be heterogeneous, with different patterns observed in different subsets of patients. For example, some studies have reported a Th1-type cytokine profile, characterized by elevated levels of IFN-γ and TNF-α, while others have reported a Th2-type cytokine profile, characterized by elevated levels of IL-4 and IL-10. There is also evidence of a shift from a Th1 to a Th2 cytokine profile in some patients over time. The cytokine profile in ITP may have important implications for diagnosis, treatment, and prognosis. Targeting specific cytokines or cytokine pathways may also represent a promising therapeutic approach for ITP. Further studies are needed to better understand the heterogeneity of the cytokine profile in ITP and its potential implications for clinical management.","PeriodicalId":101407,"journal":{"name":"Frontiers in hematology","volume":"36 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114785290","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}
Pub Date : 2023-08-04DOI: 10.3389/frhem.2023.1214902
Abdellatif Ismail, Ali Aqel, Ma’in Abumuhfouz, Mohamad Safieh, M. Arabyat, M. Ibrahim, Kalpana Singh, M. Yassin
Sickle cell disease (SCD) is a hemoglobin disorder inherited in an autosomal recessive pattern. Pain from vaso-occlusive crises (VOCs) is the most common symptom experienced by patients with SCD; thus, pain management constitutes a significant role in this patient population. We hypothesized that physicians with less favorable attitudes toward SCD patients are less likely to follow pain management guidelines. In this cross-sectional convenience sample survey, we aimed to assess the adherence of physicians in our institute to guidelines for the management of SCD pain crises and study the factors that are associated with non-adherence to these guidelines. Most surveyed physicians were early in their career and were found to adhere to the recommendations of using opioids and NSAIDs as a first-line therapy and avoiding using meperidine. On the other hand, some analgesic practices deviated from the recommendations, including less frequent assessment and reassessment of pain and response to pain medications and less frequent use of opioid patient-controlled analgesia (PCA). It is noteworthy that the frequency and severity of untreated pain in patients with SCD are associated with higher mortality, thus appropriate comprehensive care for such a vulnerable population should be prioritized and optimized. Although we did not find an association between the providers’ attitudes toward SCD patients and their pain management practices, improving these attitudes will promote the provider–patient relationship and its therapeutic outcomes. We conclude that the physicians taking care of SCD patients in our institute adhere to some of the guidelines in the field more than others. We also conclude that they have negative attitudes toward SCD patients; nevertheless, these did not affect their pain management practices.
{"title":"Knowledge, attitude, and practice of physicians regarding pain management in patients with Sickle cell disease","authors":"Abdellatif Ismail, Ali Aqel, Ma’in Abumuhfouz, Mohamad Safieh, M. Arabyat, M. Ibrahim, Kalpana Singh, M. Yassin","doi":"10.3389/frhem.2023.1214902","DOIUrl":"https://doi.org/10.3389/frhem.2023.1214902","url":null,"abstract":"Sickle cell disease (SCD) is a hemoglobin disorder inherited in an autosomal recessive pattern. Pain from vaso-occlusive crises (VOCs) is the most common symptom experienced by patients with SCD; thus, pain management constitutes a significant role in this patient population. We hypothesized that physicians with less favorable attitudes toward SCD patients are less likely to follow pain management guidelines. In this cross-sectional convenience sample survey, we aimed to assess the adherence of physicians in our institute to guidelines for the management of SCD pain crises and study the factors that are associated with non-adherence to these guidelines. Most surveyed physicians were early in their career and were found to adhere to the recommendations of using opioids and NSAIDs as a first-line therapy and avoiding using meperidine. On the other hand, some analgesic practices deviated from the recommendations, including less frequent assessment and reassessment of pain and response to pain medications and less frequent use of opioid patient-controlled analgesia (PCA). It is noteworthy that the frequency and severity of untreated pain in patients with SCD are associated with higher mortality, thus appropriate comprehensive care for such a vulnerable population should be prioritized and optimized. Although we did not find an association between the providers’ attitudes toward SCD patients and their pain management practices, improving these attitudes will promote the provider–patient relationship and its therapeutic outcomes. We conclude that the physicians taking care of SCD patients in our institute adhere to some of the guidelines in the field more than others. We also conclude that they have negative attitudes toward SCD patients; nevertheless, these did not affect their pain management practices.","PeriodicalId":101407,"journal":{"name":"Frontiers in hematology","volume":"73 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132479623","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}
Pub Date : 2023-08-03DOI: 10.3389/frhem.2023.1216596
Lorna M. McLeman, A. Glaser, R. Conyers, A. Deans
Fanconi anemia (FA) is the most common inherited bone marrow failure syndrome, characterized by cellular DNA repair deficiency, developmental defects, and a 700-fold increased risk of developing cancer. A bone marrow transplant is the only treatment option for the hematological manifestations of FA, but it can have serious complications. Gene therapy, on the other hand, offers a promising alternative, using cells from the patient that have been corrected ex vivo. However, due to the complexity of cells with a compromised DNA repair pathway, it has been difficult to achieve success in treating FA with gene therapy, despite advancements in the treatment of other blood disorders. This review summarizes all published human trials to date, including a recent study that reported success in treating four pediatric patients with gene therapy, and its interim Phase II study that has successfully treated six further patients. We discuss the key advances, such as improvements in viral vectors, shorter ex vivo transduction protocols, and the use of hypoxia and/or media additives such as N-acetylcysteine or etanercept. We also discuss the potential use of mobilizing agents such as granulocyte-colony stimulating factor (G-CSF) and plerixafor. The data from human trials are systematically reviewed and advances in murine and in vitro studies are discussed.
{"title":"A systematic review investigating advances in gene therapy for Fanconi anemia over the last three decades","authors":"Lorna M. McLeman, A. Glaser, R. Conyers, A. Deans","doi":"10.3389/frhem.2023.1216596","DOIUrl":"https://doi.org/10.3389/frhem.2023.1216596","url":null,"abstract":"Fanconi anemia (FA) is the most common inherited bone marrow failure syndrome, characterized by cellular DNA repair deficiency, developmental defects, and a 700-fold increased risk of developing cancer. A bone marrow transplant is the only treatment option for the hematological manifestations of FA, but it can have serious complications. Gene therapy, on the other hand, offers a promising alternative, using cells from the patient that have been corrected ex vivo. However, due to the complexity of cells with a compromised DNA repair pathway, it has been difficult to achieve success in treating FA with gene therapy, despite advancements in the treatment of other blood disorders. This review summarizes all published human trials to date, including a recent study that reported success in treating four pediatric patients with gene therapy, and its interim Phase II study that has successfully treated six further patients. We discuss the key advances, such as improvements in viral vectors, shorter ex vivo transduction protocols, and the use of hypoxia and/or media additives such as N-acetylcysteine or etanercept. We also discuss the potential use of mobilizing agents such as granulocyte-colony stimulating factor (G-CSF) and plerixafor. The data from human trials are systematically reviewed and advances in murine and in vitro studies are discussed.","PeriodicalId":101407,"journal":{"name":"Frontiers in hematology","volume":"24 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127728364","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}
Pub Date : 2023-08-03DOI: 10.3389/frhem.2023.1243247
S. Chakrabarti, S. Jaiswal
Despite advances in transplantation techniques and immunosuppressive therapies, graft-versus-host disease (GVHD) remains a significant cause of morbidity and mortality, necessitating the use of innovative strategies for its prevention. T-cell activation plays a crucial role in the pathogenesis of GVHD, and T-cell costimulation blockade (COSBL) has emerged as a promising approach to prevent this devastating condition. This review aims to explore the concept of COSBL and its potential as a paradigm-shifting strategy in the prevention of GVHD, in the context of the existing modalities for the prevention of GVHD and the preclinical and clinical studies on COSBL. The unique property of abatacept (CTLA4Ig) is not just limited to dampening T-cell activation. The salutary effect of abatacept on natural killer (NK) cells and Tregs alike provides a unique opportunity to dissociate T-cell-mediated GVHD from NK cell-mediated graft-versus-leukemia. Further research is warranted to explore other modalities of COSBL, determine the optimal dosing and combinations for COSBL, and identify predictive biomarkers for patient stratification, ultimately paving the way for improved outcomes in hematopoietic cell transplantation recipients.
{"title":"Abatacept and T-cell costimulation blockade—shifting the paradigm in the prevention of graft-versus-host disease","authors":"S. Chakrabarti, S. Jaiswal","doi":"10.3389/frhem.2023.1243247","DOIUrl":"https://doi.org/10.3389/frhem.2023.1243247","url":null,"abstract":"Despite advances in transplantation techniques and immunosuppressive therapies, graft-versus-host disease (GVHD) remains a significant cause of morbidity and mortality, necessitating the use of innovative strategies for its prevention. T-cell activation plays a crucial role in the pathogenesis of GVHD, and T-cell costimulation blockade (COSBL) has emerged as a promising approach to prevent this devastating condition. This review aims to explore the concept of COSBL and its potential as a paradigm-shifting strategy in the prevention of GVHD, in the context of the existing modalities for the prevention of GVHD and the preclinical and clinical studies on COSBL. The unique property of abatacept (CTLA4Ig) is not just limited to dampening T-cell activation. The salutary effect of abatacept on natural killer (NK) cells and Tregs alike provides a unique opportunity to dissociate T-cell-mediated GVHD from NK cell-mediated graft-versus-leukemia. Further research is warranted to explore other modalities of COSBL, determine the optimal dosing and combinations for COSBL, and identify predictive biomarkers for patient stratification, ultimately paving the way for improved outcomes in hematopoietic cell transplantation recipients.","PeriodicalId":101407,"journal":{"name":"Frontiers in hematology","volume":"94 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114579932","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}
Pub Date : 2023-06-29DOI: 10.3389/frhem.2023.1205941
Christian Kjellander, E. Hernlund, M. Ivergård, A. Svedbom, T. Dibbern, A. Stenling, F. Sjöö, S. Vertuani, A. Glenthøj, H. Cherif
Introduction Sickle cell disease (SCD) describes a group of inherited disorders of hemoglobin. Globally, SCD occurs in approximately 300,000-400,000 births annually and is most prevalent in malaria-endemic countries. However, migration has impacted the epidemiology of SCD but data on the matter are scarce. The objective of this study was to describe the epidemiology, treatment uptake, and economic burden of SCD in Sweden, a country with substantial immigration over the last decades. Methods This nationwide retrospective observational registry cohort study identified patients with SCD from 2001 to 2018 and followed them from 2006 to 2018. Using data from high-quality population-based Swedish registers, we estimated prevalence, treatment uptake, and SCD-related health care resource use, sick leave and disability pension. Results Between 2006 and 2018 the number of patients with SCD increased from 504 to 670; inpatient hospital stays and outpatient visits increased by 200% and 300%, respectively. Patients with pain crises had approximately twice the number of inpatient episodes and outpatient visit per year, and had higher productivity losses compared to patients without crises. Conclusion In an era of emerging treatments for SCD, we have, to the best of our knowledge, for the first time comprehensively described epidemiological and economic aspects of SCD in a country where the disease is still rare and not well recognized by the healthcare system.
{"title":"Economic burden of sickle cell disease in Sweden: a population-based national register study with 13 years follow up","authors":"Christian Kjellander, E. Hernlund, M. Ivergård, A. Svedbom, T. Dibbern, A. Stenling, F. Sjöö, S. Vertuani, A. Glenthøj, H. Cherif","doi":"10.3389/frhem.2023.1205941","DOIUrl":"https://doi.org/10.3389/frhem.2023.1205941","url":null,"abstract":"Introduction Sickle cell disease (SCD) describes a group of inherited disorders of hemoglobin. Globally, SCD occurs in approximately 300,000-400,000 births annually and is most prevalent in malaria-endemic countries. However, migration has impacted the epidemiology of SCD but data on the matter are scarce. The objective of this study was to describe the epidemiology, treatment uptake, and economic burden of SCD in Sweden, a country with substantial immigration over the last decades. Methods This nationwide retrospective observational registry cohort study identified patients with SCD from 2001 to 2018 and followed them from 2006 to 2018. Using data from high-quality population-based Swedish registers, we estimated prevalence, treatment uptake, and SCD-related health care resource use, sick leave and disability pension. Results Between 2006 and 2018 the number of patients with SCD increased from 504 to 670; inpatient hospital stays and outpatient visits increased by 200% and 300%, respectively. Patients with pain crises had approximately twice the number of inpatient episodes and outpatient visit per year, and had higher productivity losses compared to patients without crises. Conclusion In an era of emerging treatments for SCD, we have, to the best of our knowledge, for the first time comprehensively described epidemiological and economic aspects of SCD in a country where the disease is still rare and not well recognized by the healthcare system.","PeriodicalId":101407,"journal":{"name":"Frontiers in hematology","volume":"14 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129575751","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}
Pub Date : 2023-06-26DOI: 10.3389/frhem.2023.1203369
R. Bergantim, S. Chacim, A. Monteiro, A. M. Macedo, G. Rodrigues, M. G. da Silva
Clinical features of Waldenström Macroglobulinemia (WM) are variable, often leading to heterogeneous decisions regarding patients’ diagnosis, risk stratification, and treatment. This study assessed the agreement rates on WM diagnosis, risk stratification, and active treatment strategies to capture how this heterogeneity may influence national practices among hematologists. A two-round Delphi-like Panel with 22 national hematologists experienced in WM was conducted online, where 33 statements were classified using a 4-point Likert scale. For each statement, the consensus level was set at 70% for “fully agree/disagree”; the majority level was defined as >70% in agreement or disagreement. After two rounds, no statements were categorized as consensus, and 15 out of 33 failed to obtain a qualified majority. Globally, the experts could not reach a qualified majority in approximately half of the sentences from each category (diagnosis, risk assessment, and therapeutic decision), indicating that contradictory opinions are transversal to all the topics involving WM. A lack of consensus in diagnosing and managing WM among Portuguese hematologists became evident. These results illustrate heterogeneity in clinical practices, and future research initiatives should be considered to improve and reinforce accepted guidelines for diagnosing, assessing, and treating WM patients.
{"title":"Waldenström Macroglobulinemia diagnosis, risk assessment and treatment in Portugal – results from a Delphi-like Panel","authors":"R. Bergantim, S. Chacim, A. Monteiro, A. M. Macedo, G. Rodrigues, M. G. da Silva","doi":"10.3389/frhem.2023.1203369","DOIUrl":"https://doi.org/10.3389/frhem.2023.1203369","url":null,"abstract":"Clinical features of Waldenström Macroglobulinemia (WM) are variable, often leading to heterogeneous decisions regarding patients’ diagnosis, risk stratification, and treatment. This study assessed the agreement rates on WM diagnosis, risk stratification, and active treatment strategies to capture how this heterogeneity may influence national practices among hematologists. A two-round Delphi-like Panel with 22 national hematologists experienced in WM was conducted online, where 33 statements were classified using a 4-point Likert scale. For each statement, the consensus level was set at 70% for “fully agree/disagree”; the majority level was defined as >70% in agreement or disagreement. After two rounds, no statements were categorized as consensus, and 15 out of 33 failed to obtain a qualified majority. Globally, the experts could not reach a qualified majority in approximately half of the sentences from each category (diagnosis, risk assessment, and therapeutic decision), indicating that contradictory opinions are transversal to all the topics involving WM. A lack of consensus in diagnosing and managing WM among Portuguese hematologists became evident. These results illustrate heterogeneity in clinical practices, and future research initiatives should be considered to improve and reinforce accepted guidelines for diagnosing, assessing, and treating WM patients.","PeriodicalId":101407,"journal":{"name":"Frontiers in hematology","volume":"187 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133670427","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}
Pub Date : 2023-06-20DOI: 10.3389/frhem.2023.1187681
G. Forni, G. Grazzini, J. Boudreaux, V. Agostini, L. Omert
Beta thalassemia (β-thalassemia) is part of a group of inherited hemoglobinopathies caused by a mutation in the beta globin gene, leading to minimal functional hemoglobin and resulting in damaged red blood cells and anemia. β-Thalassemia is most common in the Mediterranean region, South-East Asia, the Indian subcontinent, and the Middle East. Many of these regions include low- and middle-income countries where there are significant unmet needs in the adequate care and management of thalassemia. Patients with transfusion-dependent β-thalassemia, the most severe form of the disease, require regular blood transfusions. Chronic transfusions are often accompanied by iron chelation therapy to manage ferritin levels. Complications caused by transfusions and iron overload are only partially addressed by current treatment strategies, which negatively affect the quality of life of patients with transfusion-dependent β-thalassemia. Until curative modalities become available for all patients worldwide, methods of optimizing supportive treatments are needed to reduce the symptoms of ineffective erythropoiesis; minimize transfusion-related reactions and side effects; reduce rates of alloimmunization and transfusion-transmitted infections; and to reduce the psychosocial burden on both patients and their caregivers. This review aims to provide an overview and comparison of the ways transfusion-dependent β-thalassemia is identified and treated in different geographic regions, to assess unmet needs specific to these regions, and to discuss how therapies currently in development may improve care.
{"title":"Global burden and unmet needs in the treatment of transfusion-dependent β-thalassemia","authors":"G. Forni, G. Grazzini, J. Boudreaux, V. Agostini, L. Omert","doi":"10.3389/frhem.2023.1187681","DOIUrl":"https://doi.org/10.3389/frhem.2023.1187681","url":null,"abstract":"Beta thalassemia (β-thalassemia) is part of a group of inherited hemoglobinopathies caused by a mutation in the beta globin gene, leading to minimal functional hemoglobin and resulting in damaged red blood cells and anemia. β-Thalassemia is most common in the Mediterranean region, South-East Asia, the Indian subcontinent, and the Middle East. Many of these regions include low- and middle-income countries where there are significant unmet needs in the adequate care and management of thalassemia. Patients with transfusion-dependent β-thalassemia, the most severe form of the disease, require regular blood transfusions. Chronic transfusions are often accompanied by iron chelation therapy to manage ferritin levels. Complications caused by transfusions and iron overload are only partially addressed by current treatment strategies, which negatively affect the quality of life of patients with transfusion-dependent β-thalassemia. Until curative modalities become available for all patients worldwide, methods of optimizing supportive treatments are needed to reduce the symptoms of ineffective erythropoiesis; minimize transfusion-related reactions and side effects; reduce rates of alloimmunization and transfusion-transmitted infections; and to reduce the psychosocial burden on both patients and their caregivers. This review aims to provide an overview and comparison of the ways transfusion-dependent β-thalassemia is identified and treated in different geographic regions, to assess unmet needs specific to these regions, and to discuss how therapies currently in development may improve care.","PeriodicalId":101407,"journal":{"name":"Frontiers in hematology","volume":"94 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129808093","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}
Pub Date : 2023-06-20DOI: 10.3389/frhem.2023.1171991
D. Derudas, S. Massidda, M. P. Simula, D. Dessì, S. Usai, G. Longhitano, Daniela Ibba, Loredana Aracu, M. Atzori, G. La Nasa
Background Non-Hodgkin’s lymphoma (NHL) and Hodgkin’s lymphoma (HL) are two of the most common hematologic diseases that require an infusion of immunochemotherapies in conjunction with radiotherapy, often in an outpatient setting. For relapsed/refractory disease, autologous peripheral hematopoietic stem cell transplantation and sometimes allogeneic transplantation (HSCT) are considered standard treatment options. Recently, chimeric antigen receptor (CAR) T cells and bispecific antibodies have emerged as an important and effective option for the treatment of relapsed/refractory patients. These medical approaches deserve effective, safe, and durable vascular access, especially for the ambulatory population undergoing discontinuous treatment associated with high rates of complications and life-threatening toxicities. Peripherally inserted central catheters (PICCs) are vascular devices with an intermediate-to-long-term lifespan that are inserted ultrasonically into a peripheral brachial vein. Their ease of insertion by trained nurses and low rate of catheter-related infectious and thrombotic complications make them ideal devices for treating oncology and hematology patients. Purpose In this study, we aim to demonstrate that PICCs are an essential tool for the treatment of HL and NHL patients in terms of efficiency and safety Methods and results From March 2007 to June 2020, 316 PICC implantations were performed by our PICC team in 276 HL patients and 363 PICC in 322 NHL patients. The total lifespan of the PICCs was 50,660 days in HL and 43,919 days in NHL patients. Most PICCs were removed at the end of therapy, and the rate of mechanical complications was low. Only one and four episodes of confirmed PICC-related catheter-related bloodstream infections (CRBSIs) (0.3%; 0.02/1,000 days/PICC and 1.2%; 0.07/1,000 days/PICC) were recorded in HL and NHL patients, respectively. There were only 11 (3.6%; 0.25/1,000 days/PICC) and nine (2.6%; 0.17/1,000 days/PICC) episodes of symptomatic PICC-related thrombotic complications in HL and NHL patients, respectively, without removal. Conclusion Our data indicate that the PICC can be considered the device of choice for treating HL and NHL patients because it is easy to insert, safe to use, long-lasting, and has a low complication rate, especially in the outpatient setting.
{"title":"Peripherally inserted central catheter insertion and management in Hodgkin and non-Hodgkin lymphomas: a 13-year monocentric experience","authors":"D. Derudas, S. Massidda, M. P. Simula, D. Dessì, S. Usai, G. Longhitano, Daniela Ibba, Loredana Aracu, M. Atzori, G. La Nasa","doi":"10.3389/frhem.2023.1171991","DOIUrl":"https://doi.org/10.3389/frhem.2023.1171991","url":null,"abstract":"Background Non-Hodgkin’s lymphoma (NHL) and Hodgkin’s lymphoma (HL) are two of the most common hematologic diseases that require an infusion of immunochemotherapies in conjunction with radiotherapy, often in an outpatient setting. For relapsed/refractory disease, autologous peripheral hematopoietic stem cell transplantation and sometimes allogeneic transplantation (HSCT) are considered standard treatment options. Recently, chimeric antigen receptor (CAR) T cells and bispecific antibodies have emerged as an important and effective option for the treatment of relapsed/refractory patients. These medical approaches deserve effective, safe, and durable vascular access, especially for the ambulatory population undergoing discontinuous treatment associated with high rates of complications and life-threatening toxicities. Peripherally inserted central catheters (PICCs) are vascular devices with an intermediate-to-long-term lifespan that are inserted ultrasonically into a peripheral brachial vein. Their ease of insertion by trained nurses and low rate of catheter-related infectious and thrombotic complications make them ideal devices for treating oncology and hematology patients. Purpose In this study, we aim to demonstrate that PICCs are an essential tool for the treatment of HL and NHL patients in terms of efficiency and safety Methods and results From March 2007 to June 2020, 316 PICC implantations were performed by our PICC team in 276 HL patients and 363 PICC in 322 NHL patients. The total lifespan of the PICCs was 50,660 days in HL and 43,919 days in NHL patients. Most PICCs were removed at the end of therapy, and the rate of mechanical complications was low. Only one and four episodes of confirmed PICC-related catheter-related bloodstream infections (CRBSIs) (0.3%; 0.02/1,000 days/PICC and 1.2%; 0.07/1,000 days/PICC) were recorded in HL and NHL patients, respectively. There were only 11 (3.6%; 0.25/1,000 days/PICC) and nine (2.6%; 0.17/1,000 days/PICC) episodes of symptomatic PICC-related thrombotic complications in HL and NHL patients, respectively, without removal. Conclusion Our data indicate that the PICC can be considered the device of choice for treating HL and NHL patients because it is easy to insert, safe to use, long-lasting, and has a low complication rate, especially in the outpatient setting.","PeriodicalId":101407,"journal":{"name":"Frontiers in hematology","volume":"9 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116782310","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}
Pub Date : 2023-05-30DOI: 10.3389/frhem.2023.1160049
Y. Jin, F. Ren, Shuyan Wang, Jin Xu, Ying-Hua Wu, Jin-fen Tang, Jianfeng Xu
Large granular lymphocytic leukemia (LGLL) is a clonal lymphoproliferative disease with a slow course and considerable difficulties in correct diagnosis and therapy. T-LGLL is the most prevalent subtype of LGLL, accounting for approximately 85%. T-LGLL co-existence with solid malignancies is relatively rare. CD20-positive T-cell neoplasm is a rare disease in clinics. In this study, we report a case of CD20-positive T-LGLL with renal cell carcinoma (RCC) that was eventually diagnosed by splenectomy and nephrectomy. The accumulation of cases will contribute to diagnosing and treating CD20-positive T-LGLL complicated with solid tumors.
{"title":"Case Report: A rare case of CD20-positive T-cell large granular lymphocyte leukemia with renal cell carcinoma: a challenging diagnosis","authors":"Y. Jin, F. Ren, Shuyan Wang, Jin Xu, Ying-Hua Wu, Jin-fen Tang, Jianfeng Xu","doi":"10.3389/frhem.2023.1160049","DOIUrl":"https://doi.org/10.3389/frhem.2023.1160049","url":null,"abstract":"Large granular lymphocytic leukemia (LGLL) is a clonal lymphoproliferative disease with a slow course and considerable difficulties in correct diagnosis and therapy. T-LGLL is the most prevalent subtype of LGLL, accounting for approximately 85%. T-LGLL co-existence with solid malignancies is relatively rare. CD20-positive T-cell neoplasm is a rare disease in clinics. In this study, we report a case of CD20-positive T-LGLL with renal cell carcinoma (RCC) that was eventually diagnosed by splenectomy and nephrectomy. The accumulation of cases will contribute to diagnosing and treating CD20-positive T-LGLL complicated with solid tumors.","PeriodicalId":101407,"journal":{"name":"Frontiers in hematology","volume":"23 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124030260","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}
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