Pub Date : 2023-04-13DOI: 10.33590/emjhematol/10306891
David J Sutton, S. Rhodes
A conversation with David Sutton, co-director of the Staffordshire Thrombosis and Anticoagulation Centre, University Hospitals North Midlands, UK, and Sue Rhodes, venous thromboembolism (VTE) clinical nurse specialist and joint Anticoagulant Lead at Great Western Hospitals, Swindon, UK. VTE is one of the major causes of morbidity and mortality, and is still a bigger killer than breast cancer, prostate cancer, and road traffic accidents.1 While there has been little change in the number of cases since 2010, treatment options have improved. EMJ talked to thromboembolism experts about VTE extension treatment and its role in preventing recurrence.
{"title":"Extension Treatment: Preventing Recurrence of Venous Thromboembolism","authors":"David J Sutton, S. Rhodes","doi":"10.33590/emjhematol/10306891","DOIUrl":"https://doi.org/10.33590/emjhematol/10306891","url":null,"abstract":"A conversation with David Sutton, co-director of the Staffordshire Thrombosis and Anticoagulation Centre, University Hospitals North Midlands, UK, and Sue Rhodes, venous thromboembolism (VTE) clinical nurse specialist and joint Anticoagulant Lead at Great Western Hospitals, Swindon, UK.\u0000\u0000VTE is one of the major causes of morbidity and mortality, and is still a bigger killer than breast cancer, prostate cancer, and road traffic accidents.1 While there has been little change in the number of cases since 2010, treatment options have improved. EMJ talked to thromboembolism experts about VTE extension treatment and its role in preventing recurrence.","PeriodicalId":326555,"journal":{"name":"EMJ Hematology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133416414","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 : 2022-07-21DOI: 10.33590/emjhematol/22c0248
Jennifer Taylor
Presenting at the European Hematology Association (EHA) 2022 Congress, Peter Borchmann from the University of Cologne, Germany, discussed a novel tandem cluster of differentiation (CD) 19 and CD20 chimeric antigen receptor (CAR)-T therapy for the treatment of patients with relapsed or refractory B cell non-Hodgkin lymphoma. Borchmann presented the 2-year follow up data from DALY 1 trial, which showed that beyond a favourable safety profile, zamtocabtagene autoleucel (MB-CART2019.1) led to durable complete remissions.
{"title":"Zamtocabtagene Autoleucel (MB-CART2019.1): An Investigational CAR-T Cell Product with Tandem Targeting of CD19 and CD20 as a Potential Treatment Option for Patients with Relapsed/ Refractory B Cell Non-Hodgkin Lymphoma","authors":"Jennifer Taylor","doi":"10.33590/emjhematol/22c0248","DOIUrl":"https://doi.org/10.33590/emjhematol/22c0248","url":null,"abstract":"Presenting at the European Hematology Association (EHA) 2022 Congress, Peter Borchmann from the University of Cologne, Germany, discussed a novel tandem cluster of differentiation (CD) 19 and CD20 chimeric antigen receptor (CAR)-T therapy for the treatment of patients with relapsed or refractory B cell non-Hodgkin lymphoma. Borchmann presented the 2-year follow up data from DALY 1 trial, which showed that beyond a favourable safety profile, zamtocabtagene autoleucel (MB-CART2019.1) led to durable complete remissions.","PeriodicalId":326555,"journal":{"name":"EMJ Hematology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131998547","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 : 2022-07-21DOI: 10.33590/emjhematol/22-00027
S. Aggoune, Nacer Djidjli, H. Maouche
Von Willebrand disease (VWD) is a bleeding disorder, resulting from a quantitative or qualitative defect in von Willebrand factor (VWF). A regulatory role for VWF in angiogenesis was postulated upon the clinical observation that qualitative or quantitative VWF defects are associated with the frequent occurrence of neoangiogenesis, particularly in the gastrointestinal (GI) tract. Vascular malformations of the GI tract are a cause of digestive bleeding in the form of either acute or chronic haemorrhage and represent a heterogeneous group of lesions, including angiodysplasias and telangiectasias. The management of these patients is challenging due to recurrent and severe episodes of GI bleeding. The mainstay of treatment of angiodysplasia is replacement therapy when this abnormality causes GI bleeding in patients with congenital VWD. When bleeding episodes recur frequently, regular prophylaxis should be implemented, leading to an acceptable degree of prevention of bleeding. The authors had a difficult experience in a 14-year-old adolescent with Type 3 VWD, who had presented with extremely serious recurrent bleeding secondary to duodenal angiodyplasia.
{"title":"Von Willebrand Disease-Associated Angiodysplasia: Presentation of a Paediatric Case","authors":"S. Aggoune, Nacer Djidjli, H. Maouche","doi":"10.33590/emjhematol/22-00027","DOIUrl":"https://doi.org/10.33590/emjhematol/22-00027","url":null,"abstract":"Von Willebrand disease (VWD) is a bleeding disorder, resulting from a quantitative or qualitative defect in von Willebrand factor (VWF). A regulatory role for VWF in angiogenesis was postulated upon the clinical observation that qualitative or quantitative VWF defects are associated with the frequent occurrence of neoangiogenesis, particularly in the gastrointestinal (GI) tract. Vascular malformations of the GI tract are a cause of digestive bleeding in the form of either acute or chronic haemorrhage and represent a heterogeneous group of lesions, including angiodysplasias and telangiectasias. The management of these patients is challenging due to recurrent and severe episodes of GI bleeding. The mainstay of treatment of angiodysplasia is replacement therapy when this abnormality causes GI bleeding in patients with congenital VWD. When bleeding episodes recur frequently, regular prophylaxis should be implemented, leading to an acceptable degree of prevention of bleeding. The authors had a difficult experience in a 14-year-old adolescent with Type 3 VWD, who had presented with extremely serious recurrent bleeding secondary to duodenal angiodyplasia.","PeriodicalId":326555,"journal":{"name":"EMJ Hematology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127651121","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 : 2022-04-28DOI: 10.33590/emjhematol/22-00041
F. Greco, F. Marino
β-Thalassaemia (BT) is a hereditary genetic blood disease caused by a mutation in the gene that encodes the haemoglobin protein. In the most severe forms, BT forces patients to undergo frequent blood transfusions, which has a significant impact on the quality of life. Classified as rare, BT is very common in the Mediterranean area, and is also found in the Middle East, Central Asia, India, South America, and North Africa. This disease does not currently have a definitive cure, although technological progress and new gene therapies are achieving promising results. This literature review was conducted with the aim to understand how BT affects patients' lives in various social contexts in which they are involved. The authors also aimed to understand which methods are used for this assessment and the possible social actions that can help in the management of the disease. Electronic databases, including PubMed, Scopus, and Web of Science, were used to search for the articles. Related article titles were selected and reduced to the abstracts of the relevant articles, after which the selected full articles were reviewed. The reviewed articles showed consistent agreement in observing that the quality of life of patients with BT is considerably lower compared with the healthy population in terms of physical, emotional, social, and functioning at school. The negative results highlight the significance of the introduction of suitable programmes by healthcare providers, counsellors, and education authorities to provide psychosocial support, and improve academic performance. In addition, genetic counselling and intervention programmes would positively impact the lives of patients with thalassaemia.
β-地中海贫血(BT)是一种遗传性血液疾病，由编码血红蛋白的基因突变引起。在最严重的情况下，BT迫使患者频繁输血，这对生活质量有重大影响。BT被归类为罕见，在地中海地区非常常见，在中东、中亚、印度、南美和北非也有发现。虽然技术进步和新的基因疗法正在取得可喜的成果，但这种疾病目前还没有明确的治疗方法。本文献综述进行的目的是了解BT如何影响患者的生活在不同的社会背景下，他们参与。作者还旨在了解用于这种评估的方法以及可能有助于疾病管理的社会行动。电子数据库，包括PubMed, Scopus和Web of Science，被用来搜索这些文章。选择相关文章的标题并将其简化为相关文章的摘要，然后对选定的全文进行审查。综述的文章一致认为，BT患者的生活质量在身体、情感、社交和学校功能方面明显低于健康人群。消极的结果突出了医疗保健提供者、咨询师和教育当局引入适当方案以提供心理社会支持和提高学习成绩的重要性。此外，遗传咨询和干预方案将对地中海贫血患者的生活产生积极影响。
{"title":"Social Impact and Quality of Life of Patients with β-Thalassaemia: A Systematic Review","authors":"F. Greco, F. Marino","doi":"10.33590/emjhematol/22-00041","DOIUrl":"https://doi.org/10.33590/emjhematol/22-00041","url":null,"abstract":"β-Thalassaemia (BT) is a hereditary genetic blood disease caused by a mutation in the gene that encodes the haemoglobin protein. In the most severe forms, BT forces patients to undergo frequent blood transfusions, which has a significant impact on the quality of life. Classified as rare, BT is very common in the Mediterranean area, and is also found in the Middle East, Central Asia, India, South America, and North Africa. \u0000\u0000This disease does not currently have a definitive cure, although technological progress and new gene therapies are achieving promising results. \u0000\u0000This literature review was conducted with the aim to understand how BT affects patients' lives in various social contexts in which they are involved. The authors also aimed to understand which methods are used for this assessment and the possible social actions that can help in the management of the disease. \u0000\u0000Electronic databases, including PubMed, Scopus, and Web of Science, were used to search for the articles. Related article titles were selected and reduced to the abstracts of the relevant articles, after which the selected full articles were reviewed. \u0000\u0000The reviewed articles showed consistent agreement in observing that the quality of life of patients with BT is considerably lower compared with the healthy population in terms of physical, emotional, social, and functioning at school. The negative results highlight the significance of the introduction of suitable programmes by healthcare providers, counsellors, and education authorities to provide psychosocial support, and improve academic performance. In addition, genetic counselling and intervention programmes would positively impact the lives of patients with thalassaemia.","PeriodicalId":326555,"journal":{"name":"EMJ Hematology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132302226","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 : 2022-03-28DOI: 10.33590/emjhematol/21-00205
G. De Gregorio, S. D’Alessandro, G. Trapani, E. Quartuccio, A. Lo Casto, G. Evangelista
Thalassaemia is a chronic haemolytic anaemia that is endemic in the Mediterranean Basin. Extramedullary haematopoiesis (EMH) is a natural compensatory reaction involving several organs or tissues. This report outlines a case of dyspnoea due to bilateral dorsal paravertebral EMH, which was treated successfully with helical tomotherapy, a technique that combines intensity-modulate radiation therapy with image-guided radiation therapy. By the end of the first week of treatment, an increase in the haemoglobin value (up to 7.8 g/dL) and a remarkable reduction of dyspnoea were obtained, with haemoglobin values maintained at 7.8–7.3 g/dL without further blood transfusions. At 1-year follow-up, the patient was totally asymptomatic, with a complete resolution of dyspnoea and asthenia. The therapeutic approach to EMH remains controversial because there are no pre-established protocols, with current treatments including serial blood transfusions, hydroxyurea, radiation therapy, and surgical decompression. This clinical case description reports how helical tomotherapy may be used as a valid and effective treatment for compressive atelectasis due to EMH. In fact, radiation therapy improved the general clinical condition and self-reported symptoms of the patient and reduced the size of EMH masses visible in the chest CT scan.
{"title":"IMRT/IGRT Helical Tomotherapy: A Successful Treatment of Lung Parenchyma Compression Due to Extramedullary Haematopoiesis in Β-thalassaemia – a Case Report","authors":"G. De Gregorio, S. D’Alessandro, G. Trapani, E. Quartuccio, A. Lo Casto, G. Evangelista","doi":"10.33590/emjhematol/21-00205","DOIUrl":"https://doi.org/10.33590/emjhematol/21-00205","url":null,"abstract":"Thalassaemia is a chronic haemolytic anaemia that is endemic in the Mediterranean Basin. Extramedullary haematopoiesis (EMH) is a natural compensatory reaction involving several organs or tissues. This report outlines a case of dyspnoea due to bilateral dorsal paravertebral EMH, which was treated successfully with helical tomotherapy, a technique that combines intensity-modulate radiation therapy with image-guided radiation therapy. By the end of the first week of treatment, an increase in the haemoglobin value (up to 7.8 g/dL) and a remarkable reduction of dyspnoea were obtained, with haemoglobin values maintained at 7.8–7.3 g/dL without further blood transfusions. At 1-year follow-up, the patient was totally asymptomatic, with a complete resolution of dyspnoea and asthenia.\u0000\u0000The therapeutic approach to EMH remains controversial because there are no pre-established protocols, with current treatments including serial blood transfusions, hydroxyurea, radiation therapy, and surgical decompression. This clinical case description reports how helical tomotherapy may be used as a valid and effective treatment for compressive atelectasis due to EMH. In fact, radiation therapy improved the general clinical condition and self-reported symptoms of the patient and reduced the size of EMH masses visible in the chest CT scan.","PeriodicalId":326555,"journal":{"name":"EMJ Hematology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133645316","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 : 2022-02-03DOI: 10.33590/emjhematol/21-00164
Hind Zrikem, A. Raissi, Salma Amrani Idrissi, H. Yahyaoui, Saloua Abbassi, M. Ait Ameur, M. Chakour
Clinical manifestations of multiple myeloma are variable. The authors report a 68-year-old female who presented to the hospital with bilateral digital necrosis and dry gangrenous toes in both left and right feet. She was diagnosed with IgA-λ multiple myeloma associated with Type I cryoglobulinaemia. Emergency management consisted in hyperhydration (plasmapheresis was not available) and thromboprophylaxis. Necrotic digits were amputated. Chemotherapy (bortezomib, lenalidomide, and dexamethasone) was started with good initial evolution. This uncommon presentation can easily be missed, and clinicians should be aware of a possible underlying malignancy.
{"title":"Digital Necrosis as Initial Manifestation of Multiple Myeloma: An Unusual Case Report","authors":"Hind Zrikem, A. Raissi, Salma Amrani Idrissi, H. Yahyaoui, Saloua Abbassi, M. Ait Ameur, M. Chakour","doi":"10.33590/emjhematol/21-00164","DOIUrl":"https://doi.org/10.33590/emjhematol/21-00164","url":null,"abstract":"Clinical manifestations of multiple myeloma are variable. The authors report a 68-year-old female who presented to the hospital with bilateral digital necrosis and dry gangrenous toes in both left and right feet. She was diagnosed with IgA-λ multiple myeloma associated with Type I cryoglobulinaemia. Emergency management consisted in hyperhydration (plasmapheresis was not available) and thromboprophylaxis. Necrotic digits were amputated. Chemotherapy (bortezomib, lenalidomide, and dexamethasone) was started with good initial evolution. This uncommon presentation can easily be missed, and clinicians should be aware of a possible underlying malignancy.","PeriodicalId":326555,"journal":{"name":"EMJ Hematology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116642071","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 : 2022-01-24DOI: 10.33590/emjhematol/21-00209
R. Amaru, Mireya Carrasco, V. Gordeuk, T. Quispe, Silvia Mancilla, D. Patón, Ariel Amaru
Introduction: Polycythemia vera (PV) treatment focuses on preventing thrombotic events and delaying transformation to myelofibrosis or leukaemia. According to risk stratification, low-risk patients require therapeutic phlebotomy combined with acetylsalicylic acid, whilst the treatment of high-risk patients with PV relies on cytoreductive therapies, employing hydroxyurea (HU), ruxolitinib, or interferons. However, in low- and middle-income countries, the availability and cost of these drugs poses a challenge in treating high-risk patients, so optimising existing resources is required. Method: A prospective longitudinal study aimed to investigate the combination of atorvastatin (ATV), aspirin, and low-dose HU as a therapeutic strategy to treat PV in high-risk patients. The study evaluated the effect of statins on erythroid colony proliferation in vitro, as well as the applicability of ATV (20 mg/day), acetylsalicylic acid (100 mg/day), and hydroxiurea (500 mg/day) in high-risk patients with PV from La Paz, Bolivia, residing at 3,600 metres above sea level. Results: Simvastatin (3.5 μm) inhibited UKE-1 cell (JAK2V617F mutated) proliferation at 33%, and burstforming unit-erythroid colonies from patients with PV at 61%. Patients receiving ATV, aspirin, and low-dose HU displayed a good response and adequate tolerance to treatment (13-years follow-up). No patients experienced myelofibrosis or transformation to leukaemia, and no severe adverse events were observed. Conclusions: This accessible, effective, and low-cost therapeutic strategy could improve adherence to treatment and the overall survival of high-risk patients with PV in resource-limited countries.
{"title":"Atorvastan, Apsirin and Hydorxyurea for an Effective and Low-Cost Treatment in High-Risk Polycythemia Vera","authors":"R. Amaru, Mireya Carrasco, V. Gordeuk, T. Quispe, Silvia Mancilla, D. Patón, Ariel Amaru","doi":"10.33590/emjhematol/21-00209","DOIUrl":"https://doi.org/10.33590/emjhematol/21-00209","url":null,"abstract":"Introduction: Polycythemia vera (PV) treatment focuses on preventing thrombotic events and delaying transformation to myelofibrosis or leukaemia. According to risk stratification, low-risk patients require therapeutic phlebotomy combined with acetylsalicylic acid, whilst the treatment of high-risk patients with PV relies on cytoreductive therapies, employing hydroxyurea (HU), ruxolitinib, or interferons. However, in low- and middle-income countries, the availability and cost of these drugs\u0000poses a challenge in treating high-risk patients, so optimising existing resources is required.\u0000Method: A prospective longitudinal study aimed to investigate the combination of atorvastatin (ATV), aspirin, and low-dose HU as a therapeutic strategy to treat PV in high-risk patients. The study evaluated the effect of statins on erythroid colony proliferation in vitro, as well as the applicability of ATV (20 mg/day), acetylsalicylic acid (100 mg/day), and hydroxiurea (500 mg/day) in high-risk patients with PV from La Paz, Bolivia, residing at 3,600 metres above sea level.\u0000Results: Simvastatin (3.5 μm) inhibited UKE-1 cell (JAK2V617F mutated) proliferation at 33%, and burstforming unit-erythroid colonies from patients with PV at 61%. Patients receiving ATV, aspirin, and low-dose HU displayed a good response and adequate tolerance to treatment (13-years follow-up). No patients experienced myelofibrosis or transformation to leukaemia, and no severe adverse events were observed.\u0000Conclusions: This accessible, effective, and low-cost therapeutic strategy could improve adherence to treatment and the overall survival of high-risk patients with PV in resource-limited countries.","PeriodicalId":326555,"journal":{"name":"EMJ Hematology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134438522","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 : 2021-07-27DOI: 10.33590/10.33590/emjhematol/21f10727
T. Wolf
ON DAY 6 of the European Hematology Association (EHA) Virtual Congress 2021, Pieter Sonneveld, Professor of Hematology, Erasmus MC Cancer Institute, Rotterdam, the Netherlands, chaired the European Society for Medical Oncology and EHA (ESMO-EHA) joint session on clinical practice guidelines for the diagnosis, treatment, and follow-up of multiple myeloma.
{"title":"EHA-ESMO Guidelines for the Diagnosis, Treatment, and Follow-up of Multiple Myeloma","authors":"T. Wolf","doi":"10.33590/10.33590/emjhematol/21f10727","DOIUrl":"https://doi.org/10.33590/10.33590/emjhematol/21f10727","url":null,"abstract":"ON DAY 6 of the European Hematology Association (EHA) Virtual Congress 2021, Pieter Sonneveld, Professor of Hematology, Erasmus MC Cancer Institute, Rotterdam, the Netherlands, chaired the European Society for Medical Oncology and EHA (ESMO-EHA) joint session on clinical practice guidelines for the diagnosis, treatment, and follow-up of multiple myeloma.","PeriodicalId":326555,"journal":{"name":"EMJ Hematology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131776288","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 : 2021-07-27DOI: 10.33590/emjhematol/20-00249
L. Giannoni, E. Angelucci
This article will review recent and forthcoming advances in the treatment of thalassaemia. Prognosis of thalassaemia has dramatically improved in the last 50 years with the development of regular and safe blood transfusions and iron chelation. Almost 20 years ago, development of oral chelators, and more recently the improvement in the knowledge and understanding of iron pathophysiology, have led to optimal iron toxicity prevention and treatment. These considerable advancements in medical therapy have transformed transfusion-dependent thalassaemia from a lethal childhood disease to a chronic disease with an open prognosis, even in those individuals over 50 years of age, and with the disease being, in some instances, curable. In the 1980s, the introduction of allogeneic haematopoietic cell transplantation provided the possibility of curing the congenital disease for the first time. More recent developments include an improved understanding of erythropoiesis, which led to the development of new erythroid-stimulating factors effective in thalassaemia, an expansion of donor pull for transplantation, and the approach of the long-term promised gene therapy in clinical practice. Moreover, ongoing trials of gene editing and agents modulating iron metabolism promise new improvements. Today, patients with thalassaemia have several weapons in their therapeutic arsenal and, hopefully, will have much more to come. As usual in medical practice, new advancements provide new challenges for the medical community, and it is the duty of this community to clearly understand the benefits and challenges of any new approach in order to provide the highest clinical benefit to patients.
{"title":"Current and Future Therapies for β-Thalassaemia: A Review Article","authors":"L. Giannoni, E. Angelucci","doi":"10.33590/emjhematol/20-00249","DOIUrl":"https://doi.org/10.33590/emjhematol/20-00249","url":null,"abstract":"This article will review recent and forthcoming advances in the treatment of thalassaemia. Prognosis of thalassaemia has dramatically improved in the last 50 years with the development of regular and safe blood transfusions and iron chelation. Almost 20 years ago, development of oral chelators, and more recently the improvement in the knowledge and understanding of iron pathophysiology, have led to optimal iron toxicity prevention and treatment. These considerable advancements in medical therapy have transformed transfusion-dependent thalassaemia from a lethal childhood disease to a chronic disease with an open prognosis, even in those individuals over 50 years of age, and with the disease being, in some instances, curable. In the 1980s, the introduction of allogeneic haematopoietic cell transplantation provided the possibility of curing the congenital disease for the first time. More recent developments include an improved understanding of erythropoiesis, which led to the development of new erythroid-stimulating factors effective in thalassaemia, an expansion of donor pull for transplantation, and the approach of the long-term promised gene therapy in clinical practice. Moreover, ongoing trials of gene editing and agents modulating iron metabolism promise new improvements. Today, patients with thalassaemia have several weapons in their therapeutic arsenal and, hopefully, will have much more to come. As usual in medical practice, new advancements provide new challenges for the medical community, and it is the duty of this community to clearly understand the benefits and challenges of any new approach in order to provide the highest clinical benefit to patients.","PeriodicalId":326555,"journal":{"name":"EMJ Hematology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123969844","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 : 2021-07-27DOI: 10.33590/emjhematol/20-00274
Laith Al-Azrai, A. Mustafa, Adi Yousef al-Wahadneh
Polycythaemia vera (PV) is one of the chronic myeloproliferative neoplasms, which are collectively characterised by clonal proliferation of myeloid cells with variable morphologic maturity and haematopoietic efficiency. PV is distinguished clinically from other myeloproliferative neoplasms by the presence of an elevated red blood cell mass because of uncontrolled red blood cell production. This is accompanied by increased white blood cells and platelet production, which is because of abnormal clone of haematopoietic stem cells with increased sensitivity to the different growth factors for maturation. PV can present with variable symptoms because of impaired oxygen delivery caused by slugging of blood, such as headaches, dizziness, vertigo, tinnitus, visual disturbances, and angina pectoris. Some patients present with bleeding complications (1%); another 1% of patients present with thrombotic complications. It is uncommon for patients with myeloproliferative disorders to present with features of angioedema. There are many reported cases in the literature that describe the relationship between the occurrence of angioedema and lymphoproliferative diseases; however, there are no reported cases describing instances of myeloproliferative neoplasm with angioedema. In this article, the authors have studied a case of a 53-year-old male who presented with recurrent episodes of features that are suggestive of angioedema. He was diagnosed with JAK2-positive myeloproliferative disorder consistent with PV; this is the first reported case in Jordan.
{"title":"Recurrent Episodes of Angioedema as Presenting Feature of JAK2-Positive Myeloproliferative Disorder Consistent with Polycythaemia Vera","authors":"Laith Al-Azrai, A. Mustafa, Adi Yousef al-Wahadneh","doi":"10.33590/emjhematol/20-00274","DOIUrl":"https://doi.org/10.33590/emjhematol/20-00274","url":null,"abstract":"Polycythaemia vera (PV) is one of the chronic myeloproliferative neoplasms, which are collectively characterised by clonal proliferation of myeloid cells with variable morphologic maturity and haematopoietic efficiency. PV is distinguished clinically from other myeloproliferative neoplasms by the presence of an elevated red blood cell mass because of uncontrolled red blood cell production. This is accompanied by increased white blood cells and platelet production, which is because of abnormal clone of haematopoietic stem cells with increased sensitivity to the different growth factors for maturation. PV can present with variable symptoms because of impaired oxygen delivery caused by slugging of blood, such as headaches, dizziness, vertigo, tinnitus, visual disturbances, and angina pectoris.\u0000\u0000Some patients present with bleeding complications (1%); another 1% of patients present with thrombotic complications. It is uncommon for patients with myeloproliferative disorders to present with features of angioedema. There are many reported cases in the literature that describe the relationship between the occurrence of angioedema and lymphoproliferative diseases; however, there are no reported cases describing instances of myeloproliferative neoplasm with angioedema.\u0000\u0000In this article, the authors have studied a case of a 53-year-old male who presented with recurrent episodes of features that are suggestive of angioedema. He was diagnosed with JAK2-positive myeloproliferative disorder consistent with PV; this is the first reported case in Jordan.","PeriodicalId":326555,"journal":{"name":"EMJ Hematology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122595688","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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