Pub Date : 2022-12-23DOI: 10.3390/thalassrep13010002
M. Angastiniotis, A. Eleftheriou, M. Naveed, Ali Al Assaf, A. Polynikis, E. Soteriades, D. Farmakis
Haemoglobin disorders are hereditary, lifelong and characterised by the need for multifaceted management. The question of quality in meeting standards of care that are likely to bring the best possible outcomes for patients is a necessary consideration. The concept of reference centres supporting peripheral treatment centres in a formal networking relationship is a response to the real needs of patients and a practical solution in public health terms. In this report, a team of advisors of Thalassaemia International Federation (TIF) attempts to suggest a set of standards for haemoglobinopathy reference centres, also based on the founding principles of TIF, aiming to act as a guideline for its member associations and professional collaborators. The standards described herein can form the basis of an accreditation process and also serve as a guide for those who would advocate for quality improvement for thalassaemia services.
{"title":"TIF Standards for Haemoglobinopathy Reference Centres","authors":"M. Angastiniotis, A. Eleftheriou, M. Naveed, Ali Al Assaf, A. Polynikis, E. Soteriades, D. Farmakis","doi":"10.3390/thalassrep13010002","DOIUrl":"https://doi.org/10.3390/thalassrep13010002","url":null,"abstract":"Haemoglobin disorders are hereditary, lifelong and characterised by the need for multifaceted management. The question of quality in meeting standards of care that are likely to bring the best possible outcomes for patients is a necessary consideration. The concept of reference centres supporting peripheral treatment centres in a formal networking relationship is a response to the real needs of patients and a practical solution in public health terms. In this report, a team of advisors of Thalassaemia International Federation (TIF) attempts to suggest a set of standards for haemoglobinopathy reference centres, also based on the founding principles of TIF, aiming to act as a guideline for its member associations and professional collaborators. The standards described herein can form the basis of an accreditation process and also serve as a guide for those who would advocate for quality improvement for thalassaemia services.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2022-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48499407","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 : 2022-12-22DOI: 10.3390/thalassrep13010001
L. Rahmartani, Micheylla Kusumaning Dewi, S. Iskandar, A. Pratanata, G. Ilmana, T. T. Sari, A. Lubis, P. Wahidiyat
Transfusion-dependent thalassemia is the most severe form of thalassemia; patients require regular blood transfusions to maintain their hemoglobin level. The COVID-19 pandemic has disrupted the routine measures for controlling chronic diseases like thalassemia. This study aims to measure the difference in pre-transfusion hemoglobin levels and the frequency of transfusions before and during pandemic. This retrospective cross-sectional study utilized medical record data of 101 transfusion-dependent thalassemia (TDT) patients treated in Cipto Mangunkusumo Hospital (CMH) from 2019–2021. The dependent variables of this study were pre-transfusion hemoglobin level and transfusion attendance. The pre-pandemic phase was defined as 30 March 2019 to 29 March 2020, whereas the during-pandemic phase was from 30 March 2020 to 29 March 2021. Up to 59.4% of subjects had suboptimal Hb levels of <9.0 g/dL, even before the pandemic, and this increased to 71.3% during the pandemic. The mean pre-transfusion hemoglobin level before the pandemic was 8.71 g/dL, and this decreased to 8.46 g/dL (p value < 0.001). Transfusion attendance before and during the pandemic showed no significant difference (p-value = 0.990). Our study shows poorer control of pre-transfusion Hb levels during the pandemic. This puts patients at higher risk of developing many long-term complications.
{"title":"Impact of COVID-19 Pandemic on Pre-Transfusion Hemoglobin Level and Frequency of Transfusion in Transfusion-Dependent Thalassemia Patients in Indonesia","authors":"L. Rahmartani, Micheylla Kusumaning Dewi, S. Iskandar, A. Pratanata, G. Ilmana, T. T. Sari, A. Lubis, P. Wahidiyat","doi":"10.3390/thalassrep13010001","DOIUrl":"https://doi.org/10.3390/thalassrep13010001","url":null,"abstract":"Transfusion-dependent thalassemia is the most severe form of thalassemia; patients require regular blood transfusions to maintain their hemoglobin level. The COVID-19 pandemic has disrupted the routine measures for controlling chronic diseases like thalassemia. This study aims to measure the difference in pre-transfusion hemoglobin levels and the frequency of transfusions before and during pandemic. This retrospective cross-sectional study utilized medical record data of 101 transfusion-dependent thalassemia (TDT) patients treated in Cipto Mangunkusumo Hospital (CMH) from 2019–2021. The dependent variables of this study were pre-transfusion hemoglobin level and transfusion attendance. The pre-pandemic phase was defined as 30 March 2019 to 29 March 2020, whereas the during-pandemic phase was from 30 March 2020 to 29 March 2021. Up to 59.4% of subjects had suboptimal Hb levels of <9.0 g/dL, even before the pandemic, and this increased to 71.3% during the pandemic. The mean pre-transfusion hemoglobin level before the pandemic was 8.71 g/dL, and this decreased to 8.46 g/dL (p value < 0.001). Transfusion attendance before and during the pandemic showed no significant difference (p-value = 0.990). Our study shows poorer control of pre-transfusion Hb levels during the pandemic. This puts patients at higher risk of developing many long-term complications.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2022-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49480070","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 : 2022-11-22DOI: 10.3390/thalassrep12040020
D. Songdej, S. Fucharoen
One of the more common single-gene disorders worldwide is α-thalassemia, carriers of which are found at variable frequencies (>1%) across all tropical and subtropical countries. Two linked α-globin genes on each allele of chromosome 16 regulate α-globin chain production. Deletion of one or more α-globin genes is the most frequent molecular defect found in α-thalassemia, whereas non-deletional mutations also occur, leading to unstable α-globin chains. HbH is the most common clinically important α-thalassemia disease and occurs when three α-globin genes are deleted/mutated, leaving only one copy of the gene intact. HbH can be divided into deletional (--/-α) and non-deletional genotypes (--/αTα). Whereas clinical phenotypes of the former are usually homogenously mild to moderate, those of the latter can be diverse. As HbH disease is particularly prevalent in Southeast Asia and some parts of the Mediterranean region, where β-thalassemia is also prevalent, affected patients are sometimes left undertreated. Therefore, hematologists and general physicians need to be educated to provide optimal disease monitoring and early identification of those with more severe phenotypes. Some issues regarding transfusion and iron chelation management differ from those of β-thalassemia, and these need to be recognized. Hb Bart’s hydrops fetalis syndrome (BHFS) is the most severe form of α-thalassemia; affected patients lack production of α-globin chains. Recent advances in fetal medicine and neonatal intensive care have made it possible for BHFS to no longer constitute a universally fatal disorder. Transfusion and chelation strategies for rare survivors are distinct and require updating.
{"title":"Alpha-Thalassemia: Diversity of Clinical Phenotypes and Update on the Treatment","authors":"D. Songdej, S. Fucharoen","doi":"10.3390/thalassrep12040020","DOIUrl":"https://doi.org/10.3390/thalassrep12040020","url":null,"abstract":"One of the more common single-gene disorders worldwide is α-thalassemia, carriers of which are found at variable frequencies (>1%) across all tropical and subtropical countries. Two linked α-globin genes on each allele of chromosome 16 regulate α-globin chain production. Deletion of one or more α-globin genes is the most frequent molecular defect found in α-thalassemia, whereas non-deletional mutations also occur, leading to unstable α-globin chains. HbH is the most common clinically important α-thalassemia disease and occurs when three α-globin genes are deleted/mutated, leaving only one copy of the gene intact. HbH can be divided into deletional (--/-α) and non-deletional genotypes (--/αTα). Whereas clinical phenotypes of the former are usually homogenously mild to moderate, those of the latter can be diverse. As HbH disease is particularly prevalent in Southeast Asia and some parts of the Mediterranean region, where β-thalassemia is also prevalent, affected patients are sometimes left undertreated. Therefore, hematologists and general physicians need to be educated to provide optimal disease monitoring and early identification of those with more severe phenotypes. Some issues regarding transfusion and iron chelation management differ from those of β-thalassemia, and these need to be recognized. Hb Bart’s hydrops fetalis syndrome (BHFS) is the most severe form of α-thalassemia; affected patients lack production of α-globin chains. Recent advances in fetal medicine and neonatal intensive care have made it possible for BHFS to no longer constitute a universally fatal disorder. Transfusion and chelation strategies for rare survivors are distinct and require updating.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2022-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48931068","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 : 2022-11-04DOI: 10.3390/thalassrep12040019
M. Angastiniotis, S. Christou, Annita Kolnakou, Evangelia Pangalou, Irene Savvidou, D. Farmakis, A. Eleftheriou
Haemoglobinopathies, including thalassaemias and sickle-cell syndromes, are demanding, lifelong conditions that pose a significant burden to patients, families, and healthcare systems. Despite the therapeutic advances and the resulting improvements in prognosis accomplished in past decades, these patients still face important challenges, including suboptimal access to quality care in areas with developing economies, changing epidemiology due to massive migration flows, an evolving clinical spectrum due to ageing in well-treated patients, and limited access to novel high-cost therapies. We herein describe the organization of healthcare services for haemoglobinopathies in Cyprus—with particular focus on beta-thalassaemia, the most prevalent condition in this region—along with selected patient outcomes. This report aims at underscoring the fact that nationally funded and well-coordinated prevention and care programmes for chronic and complex conditions, such as haemoglobinopathies, with active involvement from patient organizations lead to effective disease control and excellent outcomes in survival, quality of life, social adaptation, and public health savings, and allow timely and effective responses to emerging crises, such as the COVID-19 pandemic. The Cyprus paradigm could therefore serve as a blueprint for the organization or adaptation of haemoglobinopathy programs in other countries since these disorders are still widely occurring.
{"title":"The Outcomes of Patients with Haemoglobin Disorders in Cyprus: A Joined Report of the Thalassaemia International Federation and the Nicosia and Paphos Thalassaemia Centres (State Health Services Organisation)","authors":"M. Angastiniotis, S. Christou, Annita Kolnakou, Evangelia Pangalou, Irene Savvidou, D. Farmakis, A. Eleftheriou","doi":"10.3390/thalassrep12040019","DOIUrl":"https://doi.org/10.3390/thalassrep12040019","url":null,"abstract":"Haemoglobinopathies, including thalassaemias and sickle-cell syndromes, are demanding, lifelong conditions that pose a significant burden to patients, families, and healthcare systems. Despite the therapeutic advances and the resulting improvements in prognosis accomplished in past decades, these patients still face important challenges, including suboptimal access to quality care in areas with developing economies, changing epidemiology due to massive migration flows, an evolving clinical spectrum due to ageing in well-treated patients, and limited access to novel high-cost therapies. We herein describe the organization of healthcare services for haemoglobinopathies in Cyprus—with particular focus on beta-thalassaemia, the most prevalent condition in this region—along with selected patient outcomes. This report aims at underscoring the fact that nationally funded and well-coordinated prevention and care programmes for chronic and complex conditions, such as haemoglobinopathies, with active involvement from patient organizations lead to effective disease control and excellent outcomes in survival, quality of life, social adaptation, and public health savings, and allow timely and effective responses to emerging crises, such as the COVID-19 pandemic. The Cyprus paradigm could therefore serve as a blueprint for the organization or adaptation of haemoglobinopathy programs in other countries since these disorders are still widely occurring.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2022-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44051090","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 : 2022-10-19DOI: 10.3390/thalassrep12040018
Nadeeja Amarasinghe, Amila Amarasena, Anoj Thabrew, Prabath Wearawatte, A. Premawardhena, F. Malik, Mohamed Abusaeed, Champika Wickramasinghe
Sri Lanka, a country with 22 million people, has nearly 2000 thalassemia patients with severe thalassemia, two-thirds of whom have beta thalassemia major (TM). The current prevention program based on promoting “safe marriages”, which has been in existence for over 15 years, has failed to reduce thalassemia major births. We set about to examine the cost-effectiveness of novel policy options for thalassemia prevention in Sri Lanka. Methods: The current cost for treatment of a thalassemia major patient (USD 2602/yr) was compared against the cost per reduction of single birth with three novel strategies, namely intensifying the screening in the current five districts combined with an education program (policy option 1), a nationwide screening program (policy option 2), and antenatal screening combined with the termination of pregnancy (policy option 3). The incremental cost-effectiveness ratio (ICER) of the different strategies was calculated. Results: The status quo was considered to reduce one TM birth whilst the new policy options were able to reduce births by 14, 35, and 48, respectively. The costs incurred for the program for a year for status quo and the three novel programs were USD 104,788, 173,884, 781,372, and 904,186 respectively. Cost per prevention of a thalassemia major birth was USD 87,324, 12,420, 22,324, and 20,084, respectively. The lifetime cost per treatment of a thalassemia major patient was USD 34,653. Conclusions: Given the current legal restriction on termination of pregnancy for fetal indications, policy option 2, an island-wide screening with mass education, is the most cost-effective and will be expected to deliver a substantial reduction in new births
{"title":"Redesigning New Policy Options for Thalassemia Prevention in Sri Lanka","authors":"Nadeeja Amarasinghe, Amila Amarasena, Anoj Thabrew, Prabath Wearawatte, A. Premawardhena, F. Malik, Mohamed Abusaeed, Champika Wickramasinghe","doi":"10.3390/thalassrep12040018","DOIUrl":"https://doi.org/10.3390/thalassrep12040018","url":null,"abstract":"Sri Lanka, a country with 22 million people, has nearly 2000 thalassemia patients with severe thalassemia, two-thirds of whom have beta thalassemia major (TM). The current prevention program based on promoting “safe marriages”, which has been in existence for over 15 years, has failed to reduce thalassemia major births. We set about to examine the cost-effectiveness of novel policy options for thalassemia prevention in Sri Lanka. Methods: The current cost for treatment of a thalassemia major patient (USD 2602/yr) was compared against the cost per reduction of single birth with three novel strategies, namely intensifying the screening in the current five districts combined with an education program (policy option 1), a nationwide screening program (policy option 2), and antenatal screening combined with the termination of pregnancy (policy option 3). The incremental cost-effectiveness ratio (ICER) of the different strategies was calculated. Results: The status quo was considered to reduce one TM birth whilst the new policy options were able to reduce births by 14, 35, and 48, respectively. The costs incurred for the program for a year for status quo and the three novel programs were USD 104,788, 173,884, 781,372, and 904,186 respectively. Cost per prevention of a thalassemia major birth was USD 87,324, 12,420, 22,324, and 20,084, respectively. The lifetime cost per treatment of a thalassemia major patient was USD 34,653. Conclusions: Given the current legal restriction on termination of pregnancy for fetal indications, policy option 2, an island-wide screening with mass education, is the most cost-effective and will be expected to deliver a substantial reduction in new births","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2022-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41783594","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 : 2022-09-09DOI: 10.3390/thalassrep12030017
Tsz Yuen Au, Shamiram Benjamin, O. Wiśniewski
Thalassemia is a disease of erythrocytes that varies largely on its genetic composition and associated clinical presentation. Though some patients may remain asymptomatic, those with a complicated course may experience severe anemia early in childhood, carrying into adulthood and requiring recurrent blood transfusions as a pillar of symptom management. Due to the consequences of ineffective erythropoiesis and frequent transfusions, patients with severe beta thalassemia may be subsequently susceptible to hemochromatosis. In light of the established role of hepcidin and erythroferrone in the pathogenesis of beta thalassemia, this review aims to discuss current clinical trials and studies in the field while presenting clinical implications of the HAMP gene polymorphisms and novel treatments. Research suggested incorporating erythroferrone and serum hepcidin testing as a part of routine workups for beta thalassemia, as they could be a predictive tool for early iron accumulation. Furthermore, ameliorating low hepcidin and high erythroferrone appeared to be crucial in treating beta thalassemia and its complications due to iron overload. Currently, hepcidin-like compounds, such as minihepcidins, LJPC-401, PTG-300, VIT-2763, and agents that promote hepcidin production by inhibiting TMPRSS6 expression or erythroferrone, were shown to be effective in restoring iron homeostasis in preliminary studies. Moreover, the natural bioactives astragalus polysaccharide and icariin have been recently recognized as hepcidin expression inductors.
{"title":"Is the Role of Hepcidin and Erythroferrone in the Pathogenesis of Beta Thalassemia the Key to Developing Novel Treatment Strategies?","authors":"Tsz Yuen Au, Shamiram Benjamin, O. Wiśniewski","doi":"10.3390/thalassrep12030017","DOIUrl":"https://doi.org/10.3390/thalassrep12030017","url":null,"abstract":"Thalassemia is a disease of erythrocytes that varies largely on its genetic composition and associated clinical presentation. Though some patients may remain asymptomatic, those with a complicated course may experience severe anemia early in childhood, carrying into adulthood and requiring recurrent blood transfusions as a pillar of symptom management. Due to the consequences of ineffective erythropoiesis and frequent transfusions, patients with severe beta thalassemia may be subsequently susceptible to hemochromatosis. In light of the established role of hepcidin and erythroferrone in the pathogenesis of beta thalassemia, this review aims to discuss current clinical trials and studies in the field while presenting clinical implications of the HAMP gene polymorphisms and novel treatments. Research suggested incorporating erythroferrone and serum hepcidin testing as a part of routine workups for beta thalassemia, as they could be a predictive tool for early iron accumulation. Furthermore, ameliorating low hepcidin and high erythroferrone appeared to be crucial in treating beta thalassemia and its complications due to iron overload. Currently, hepcidin-like compounds, such as minihepcidins, LJPC-401, PTG-300, VIT-2763, and agents that promote hepcidin production by inhibiting TMPRSS6 expression or erythroferrone, were shown to be effective in restoring iron homeostasis in preliminary studies. Moreover, the natural bioactives astragalus polysaccharide and icariin have been recently recognized as hepcidin expression inductors.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2022-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49065120","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 : 2022-09-06DOI: 10.3390/thalassrep12030016
Sehjeong Kim, Hamda AlDhaheri, So-Yeun Kim
We investigated the impact of three marriageable actions: normal-to-carrier, carrier-to-normal, and carrier-to-carrier marriages on thalassemia and carrier populations. The well-known strategy is limiting the carrier-to-carrier marriage to reduce the thalassemia population. Thus, the other two marriageable actions were often ignored. Other than a simple explanation of their genetic consequences, their important aspect in the thalassemia inheritance mechanism has never been studied at the population level. Moreover, there is no mathematical model investigating problem of interest for blood disorders at the population level. Hence, we developed a mathematical model to examine the possibility of eradication/reduction of thalassemia and carrier populations through each of the three marriageable actions in the long-term. We conducted computer simulations with the demographic data of the United Arab Emirates in which high thalassemia carrier prevalence is identified. We found that promoting more carrier-to-normal marriage will eventually have the same effects on marriage reconsideration for carrier-carrier couples, contributing to the reduction of the carrier population in the long-term. Interestingly, the normal-to-carrier marriage does not necessarily have a similar effect on thalassemia and carrier populations as that of the carrier-to-normal marriage. Thus, the two marriageable actions should be distinguished and also seriously considered in education and public awareness campaigns for thalassemia.
{"title":"Going Back to Fundamentals: Three Marriageable Actions for Thalassemia and Carrier Population Management","authors":"Sehjeong Kim, Hamda AlDhaheri, So-Yeun Kim","doi":"10.3390/thalassrep12030016","DOIUrl":"https://doi.org/10.3390/thalassrep12030016","url":null,"abstract":"We investigated the impact of three marriageable actions: normal-to-carrier, carrier-to-normal, and carrier-to-carrier marriages on thalassemia and carrier populations. The well-known strategy is limiting the carrier-to-carrier marriage to reduce the thalassemia population. Thus, the other two marriageable actions were often ignored. Other than a simple explanation of their genetic consequences, their important aspect in the thalassemia inheritance mechanism has never been studied at the population level. Moreover, there is no mathematical model investigating problem of interest for blood disorders at the population level. Hence, we developed a mathematical model to examine the possibility of eradication/reduction of thalassemia and carrier populations through each of the three marriageable actions in the long-term. We conducted computer simulations with the demographic data of the United Arab Emirates in which high thalassemia carrier prevalence is identified. We found that promoting more carrier-to-normal marriage will eventually have the same effects on marriage reconsideration for carrier-carrier couples, contributing to the reduction of the carrier population in the long-term. Interestingly, the normal-to-carrier marriage does not necessarily have a similar effect on thalassemia and carrier populations as that of the carrier-to-normal marriage. Thus, the two marriageable actions should be distinguished and also seriously considered in education and public awareness campaigns for thalassemia.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2022-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47448866","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 : 2022-09-01DOI: 10.3390/thalassrep12030014
Ellen B Fung, Elijah K Goldberg, Sakina Bambot, Raquel Manzo, Ashutosh Lal
Patients with thalassemia (Thal) engage in less physical activity than non-Thal populations, which may contribute to pain and osteoporosis. The purpose of this study was to assess relationships between physical activity, pain, and low bone mass in a contemporary sample of patients with Thal. Seventy-one patients with Thal (50 adults ≥18 years, 61% male, 82% transfusion-dependent) completed the Brief Pain Inventory Short Form and validated physical activity questionnaires for youth and adults. Nearly half of the patients reported daily somatic pain. Using multiple regression, after controlling for age and gender, sedentary behavior was positively associated with pain severity (p = 0.017, r2 = 0.28). Only 37% of adult participants met CDC recommendations for physical activity. Spine BMD Z-score was higher (-2.1 ± 0.7) in those who met activity guidelines compared to those who did not (-2.8 ± 1.2, p = 0.048). A positive relationship was observed between self-reported physical activity (hours/week) and hip BMD Z-score in adults with Thal after controlling for transfusion status and sedentary activity time (p = 0.009, r2 = 0.25). These results suggest that decreased physical activity and increased sedentary behavior contribute to low bone mass, which may be related to pain severity in some patients with Thal. Studies focused on increasing physical activity may contribute to improved bone health and reduced pain in patients with Thal.
{"title":"Relationships among Physical Activity, Pain, and Bone Health in Youth and Adults with Thalassemia: An Observational Study.","authors":"Ellen B Fung, Elijah K Goldberg, Sakina Bambot, Raquel Manzo, Ashutosh Lal","doi":"10.3390/thalassrep12030014","DOIUrl":"https://doi.org/10.3390/thalassrep12030014","url":null,"abstract":"<p><p>Patients with thalassemia (Thal) engage in less physical activity than non-Thal populations, which may contribute to pain and osteoporosis. The purpose of this study was to assess relationships between physical activity, pain, and low bone mass in a contemporary sample of patients with Thal. Seventy-one patients with Thal (50 adults ≥18 years, 61% male, 82% transfusion-dependent) completed the Brief Pain Inventory Short Form and validated physical activity questionnaires for youth and adults. Nearly half of the patients reported daily somatic pain. Using multiple regression, after controlling for age and gender, sedentary behavior was positively associated with pain severity (<i>p</i> = 0.017, <i>r</i> <sup><i>2</i></sup> = 0.28). Only 37% of adult participants met CDC recommendations for physical activity. Spine BMD Z-score was higher (-2.1 ± 0.7) in those who met activity guidelines compared to those who did not (-2.8 ± 1.2, <i>p</i> = 0.048). A positive relationship was observed between self-reported physical activity (hours/week) and hip BMD Z-score in adults with Thal after controlling for transfusion status and sedentary activity time (<i>p</i> = 0.009, <i>r</i> <sup><i>2</i></sup> = 0.25). These results suggest that decreased physical activity and increased sedentary behavior contribute to low bone mass, which may be related to pain severity in some patients with Thal. Studies focused on increasing physical activity may contribute to improved bone health and reduced pain in patients with Thal.</p>","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"12 3","pages":"90-100"},"PeriodicalIF":0.3,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10154047/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9792621","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}
Pub Date : 2022-08-29DOI: 10.3390/thalassrep12030015
H. Jalali, H. Karami, M. Mahdavi, M. Mahdavi
This is a report of a couple with abnormal hematological indices who were investigated for α & β-thalassemia mutations. Based on CBC and capillary hemoglobin electrophoresis results, the male and female subjects were β & α-thalassemia carriers, respectively. Multiplex-Gap-PCR and Sanger sequencing techniques were used for the identification of mutations on α and β-globin genes. The DNA test showed the presence of c.315 + 1 G > A mutation on β-globin gene of male subject while the female case had – MED double gene deletion and c.427T > C mutation on α-globin and, interestingly, she was also a carrier for c.315 + 1 G > A mutation on β-globin gene. Cases with the coinheritance of heterozygous β0-thalassemia with one functional α-globin gene have normal HbA2 levels that may lead to their being misdiagnosed as β-thalassemia carriers, especially in premarital screening programs for thalassemia. Therefore, β-globin gene sequencing is recommended in cases with normal Hb electrophoresis and reduced hematological indices in premarital screening programs for thalassemia, especially in regions with a high frequency of β-globin mutations, in order to identify all the β-thalassemia carriers.
本文报告了一对血液学指标异常的夫妇，他们被调查了α和β-地中海贫血突变。CBC和毛细管血红蛋白电泳结果显示，男性和女性分别为β和α-地中海贫血携带者。采用多重间隙pcr和Sanger测序技术鉴定α和β-珠蛋白基因突变。DNA检测显示，男性受试者β-珠蛋白基因存在C .315 + 1 G > A突变，女性患者α-珠蛋白存在- MED双基因缺失和C . 427t > C突变，有趣的是，她也是C .315 + 1 G > A突变的β-珠蛋白基因携带者。杂合型β0-地中海贫血与一个功能性α-珠蛋白基因共遗传的病例，其HbA2水平正常，可能导致其被误诊为β-地中海贫血携带者，特别是在婚前地中海贫血筛查项目中。因此，在婚前地中海贫血筛查中，特别是在β-珠蛋白突变频率高的地区，建议对Hb电泳正常、血液学指标降低的病例进行β-珠蛋白基因测序，以确定所有β-地中海贫血携带者。
{"title":"Co-Inheritance of Heterozygous β0-Thalassemia with Single Functional α-Globin Gene: Challenges of Carrier Detection in Pre-Marital Screening Program for Thalassemia","authors":"H. Jalali, H. Karami, M. Mahdavi, M. Mahdavi","doi":"10.3390/thalassrep12030015","DOIUrl":"https://doi.org/10.3390/thalassrep12030015","url":null,"abstract":"This is a report of a couple with abnormal hematological indices who were investigated for α & β-thalassemia mutations. Based on CBC and capillary hemoglobin electrophoresis results, the male and female subjects were β & α-thalassemia carriers, respectively. Multiplex-Gap-PCR and Sanger sequencing techniques were used for the identification of mutations on α and β-globin genes. The DNA test showed the presence of c.315 + 1 G > A mutation on β-globin gene of male subject while the female case had – MED double gene deletion and c.427T > C mutation on α-globin and, interestingly, she was also a carrier for c.315 + 1 G > A mutation on β-globin gene. Cases with the coinheritance of heterozygous β0-thalassemia with one functional α-globin gene have normal HbA2 levels that may lead to their being misdiagnosed as β-thalassemia carriers, especially in premarital screening programs for thalassemia. Therefore, β-globin gene sequencing is recommended in cases with normal Hb electrophoresis and reduced hematological indices in premarital screening programs for thalassemia, especially in regions with a high frequency of β-globin mutations, in order to identify all the β-thalassemia carriers.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2022-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43003015","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 : 2022-07-20DOI: 10.3390/thalassrep12030013
R. Di Maggio, A. Giuliano, D. Renda, G. Calvaruso, S. Raso, L. Pitrolo, A. Carroccio, A. Maggio
Venous thromboembolism (VTE) is a life-threatening complication, especially in case of recurrence. The appropriate duration of anticoagulant treatment following the first event is crucial. Risk factors that increase the risk of recurrence of VTE are many, and include medications, kidney disease, renal transplantation (RT), and a diagnosis of sickle cell disease (SCD). There are currently no guidelines that define the duration of anticoagulant therapy after the first event in a patient with RT. We report a case of recurring episodes of VTE after RT in a SCD patient. Our case suggests that the use of a long-term anticoagulant treatment may be recommended in patients with SCD and RT after the first event of VTE.
{"title":"A Patient with Sickle Cell Disease and Recurrent Venous Thromboembolism after Renal Transplantation","authors":"R. Di Maggio, A. Giuliano, D. Renda, G. Calvaruso, S. Raso, L. Pitrolo, A. Carroccio, A. Maggio","doi":"10.3390/thalassrep12030013","DOIUrl":"https://doi.org/10.3390/thalassrep12030013","url":null,"abstract":"Venous thromboembolism (VTE) is a life-threatening complication, especially in case of recurrence. The appropriate duration of anticoagulant treatment following the first event is crucial. Risk factors that increase the risk of recurrence of VTE are many, and include medications, kidney disease, renal transplantation (RT), and a diagnosis of sickle cell disease (SCD). There are currently no guidelines that define the duration of anticoagulant therapy after the first event in a patient with RT. We report a case of recurring episodes of VTE after RT in a SCD patient. Our case suggests that the use of a long-term anticoagulant treatment may be recommended in patients with SCD and RT after the first event of VTE.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2022-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44830958","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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