Beta thalassemia(β-thalassemia)syndromes are a heterogeneous group of inherited hemoglobinopathies caused by molecular defects in the beta-globin gene that lead to the impaired synthesis of beta-globin chains of the ...Beta thalassemia(β-thalassemia)syndromes are a heterogeneous group of inherited hemoglobinopathies caused by molecular defects in the beta-globin gene that lead to the impaired synthesis of beta-globin chains of the hemoglobin.The hallmarks of the disease include ineffective erythropoiesis,chronic hemolytic anemia,and iron overload.Clinical presentation ranges from asymptomatic carriers to severe anemia requiring lifelong blood transfusions with subsequent devastating complications.The management of patients with severeβ-thalassemia represents a global health problem,particularly in low-income countries.Until recently,management strategies were limited to regular transfusions and iron chelation therapy,with allogeneic hematopoietic stem cell transplantation available only for a subset of patients.Better understanding of the underlying pathophysiological mechanisms ofβ-thalassemia syndromes and associated clinical phenotypes has paved the way for novel therapeutic options,including pharmacologic enhancers of effective erythropoiesis and gene therapy.展开更多
BACKGROUND Hypertriglyceridemia thalassemia syndrome is a rare condition that occurs in patients with thalassemia.It typically presents with a combination of profound anemia and milky serum.Although previous case seri...BACKGROUND Hypertriglyceridemia thalassemia syndrome is a rare condition that occurs in patients with thalassemia.It typically presents with a combination of profound anemia and milky serum.Although previous case series have demonstrated the benefit of blood transfusions in reducing serum triglycerides,information regar-ding clinical outcomes and standard management in this setting remains limited.AIM To identify the clinical course,treatment strategies,and outcomes of patients with hypertriglyceridemia thalassemia syndrome.METHODS We performed a comprehensive search of the Scopus,PubMed,and Embase databases.We included only English-language articles and did not apply any publication date limits.The databases were last accessed on September 1,2024.This study was registered under number CRD420250587918 and included studies involving children and adults with thalassemia,hypertriglyceridemia,and available data on clinical course.RESULTS A total of 14 publications were included in the analysis,all of which were case reports or case series.No higher-quality evidence was available.Among 28 children with hypertriglyceridemia thalassemia syndrome,there were 22 cases ofβ-thalassemia major and 6 cases of hemoglobin E/β-thalassemia,including our illustrative case.The median age of onset was 11 months,and 92.3%of cases presented prior to the first blood transfusion.The common clinical manifestations included pallor(100%)and hepatosplenomegaly(67.9%).For hypertriglyceridemia-related symptoms,lipemia retinalis and xanthomas were observed in 25.0%and 10.7%of cases,respectively.The median hemoglobin level was 5.5 g/dL,while the median triglyceride level was 935 mg/dL.For management,92.9%of cases received blood transfusions with or without other interventions.At a median of 12 months’follow-up,all patients responded to the treatment without lipid-lowering agents,and 85.7%of cases were alive.CONCLUSION Hypertriglyceridemia thalassemia syndrome occurs exclusively in young children and usually presents with anemia and severe hypertriglyceridemia prior to the first transfusion.Management with blood transfusions provides a favorable response.However,long-term regular monitoring is warranted.展开更多
BACKGROUND Iron overload cardiomyopathy is a significant cause of morbidity and mortality in transfusion-dependent thalassemia patients.Standard iron chelation therapy is less efficient in alleviating iron accumulatio...BACKGROUND Iron overload cardiomyopathy is a significant cause of morbidity and mortality in transfusion-dependent thalassemia patients.Standard iron chelation therapy is less efficient in alleviating iron accumulation in many organs,especially when iron enters the cells via specific calcium channels.AIM To validate our hypothesis that adding amlodipine to the iron chelation regimen is more efficient in alleviating myocardial iron overload.METHODS Five databases,including PubMed,Cochrane Library,Embase,ScienceDirect,and ClinicalTrials.gov,were systematically searched,and three randomized controlled trials involving 144 pediatric patients with transfusion-dependent thalassemia were included in our meta-analysis based on the predefined eligibility criteria.The quality of the included studies was assessed based on the Cochrane collab-oration tool for bias assessment.The primary outcome assessed was myocardial-T2 and myocardial iron concentration,while the secondary results showed serum ferritin level,liver iron concentration,and treatment adverse outcomes.Weighted mean difference and odds ratio were calculated to measure the changes in the estimated treatment effects.RESULTS During the follow-up period,Amlodipine treatment significantly improved cardiac T2 by 2.79 ms compared to the control group[95%confidence interval(CI):0.34-5.24,P=0.03,I2=0%].Additionally,a significant reduction of 0.31 in myocardial iron concentration was observed with amlodipine treatment compared to the control group[95%CI:-0.38-(-0.25),P<0.00001,I2=0%].Liver iron concentration was slightly lower in the amlodipine group by-0.04 mg/g,but this difference was not statistically significant(95%CI:-0.33-0.24,P=0.77,I2=0%).Amlodipine also showed a non-significant trend toward a reduction in serum ferritin levels(-328.86 ng/mL,95%CI:-1212.34-554.62,P=0.47,I2=90%).Regarding safety,there were no significant differences between the groups in the incidence of gastrointestinal upset,hypotension,or lower limb edema.CONCLUSION Amlodipine with iron chelation therapy significantly improved cardiac parameters,including cardiac-T2 and myocardial iron,in patients with transfusion-dependent thalassemia without causing significant adverse events but enhancing the efficacy of iron chelation therapy.展开更多
文摘Beta thalassemia(β-thalassemia)syndromes are a heterogeneous group of inherited hemoglobinopathies caused by molecular defects in the beta-globin gene that lead to the impaired synthesis of beta-globin chains of the hemoglobin.The hallmarks of the disease include ineffective erythropoiesis,chronic hemolytic anemia,and iron overload.Clinical presentation ranges from asymptomatic carriers to severe anemia requiring lifelong blood transfusions with subsequent devastating complications.The management of patients with severeβ-thalassemia represents a global health problem,particularly in low-income countries.Until recently,management strategies were limited to regular transfusions and iron chelation therapy,with allogeneic hematopoietic stem cell transplantation available only for a subset of patients.Better understanding of the underlying pathophysiological mechanisms ofβ-thalassemia syndromes and associated clinical phenotypes has paved the way for novel therapeutic options,including pharmacologic enhancers of effective erythropoiesis and gene therapy.
文摘BACKGROUND Hypertriglyceridemia thalassemia syndrome is a rare condition that occurs in patients with thalassemia.It typically presents with a combination of profound anemia and milky serum.Although previous case series have demonstrated the benefit of blood transfusions in reducing serum triglycerides,information regar-ding clinical outcomes and standard management in this setting remains limited.AIM To identify the clinical course,treatment strategies,and outcomes of patients with hypertriglyceridemia thalassemia syndrome.METHODS We performed a comprehensive search of the Scopus,PubMed,and Embase databases.We included only English-language articles and did not apply any publication date limits.The databases were last accessed on September 1,2024.This study was registered under number CRD420250587918 and included studies involving children and adults with thalassemia,hypertriglyceridemia,and available data on clinical course.RESULTS A total of 14 publications were included in the analysis,all of which were case reports or case series.No higher-quality evidence was available.Among 28 children with hypertriglyceridemia thalassemia syndrome,there were 22 cases ofβ-thalassemia major and 6 cases of hemoglobin E/β-thalassemia,including our illustrative case.The median age of onset was 11 months,and 92.3%of cases presented prior to the first blood transfusion.The common clinical manifestations included pallor(100%)and hepatosplenomegaly(67.9%).For hypertriglyceridemia-related symptoms,lipemia retinalis and xanthomas were observed in 25.0%and 10.7%of cases,respectively.The median hemoglobin level was 5.5 g/dL,while the median triglyceride level was 935 mg/dL.For management,92.9%of cases received blood transfusions with or without other interventions.At a median of 12 months’follow-up,all patients responded to the treatment without lipid-lowering agents,and 85.7%of cases were alive.CONCLUSION Hypertriglyceridemia thalassemia syndrome occurs exclusively in young children and usually presents with anemia and severe hypertriglyceridemia prior to the first transfusion.Management with blood transfusions provides a favorable response.However,long-term regular monitoring is warranted.
文摘BACKGROUND Iron overload cardiomyopathy is a significant cause of morbidity and mortality in transfusion-dependent thalassemia patients.Standard iron chelation therapy is less efficient in alleviating iron accumulation in many organs,especially when iron enters the cells via specific calcium channels.AIM To validate our hypothesis that adding amlodipine to the iron chelation regimen is more efficient in alleviating myocardial iron overload.METHODS Five databases,including PubMed,Cochrane Library,Embase,ScienceDirect,and ClinicalTrials.gov,were systematically searched,and three randomized controlled trials involving 144 pediatric patients with transfusion-dependent thalassemia were included in our meta-analysis based on the predefined eligibility criteria.The quality of the included studies was assessed based on the Cochrane collab-oration tool for bias assessment.The primary outcome assessed was myocardial-T2 and myocardial iron concentration,while the secondary results showed serum ferritin level,liver iron concentration,and treatment adverse outcomes.Weighted mean difference and odds ratio were calculated to measure the changes in the estimated treatment effects.RESULTS During the follow-up period,Amlodipine treatment significantly improved cardiac T2 by 2.79 ms compared to the control group[95%confidence interval(CI):0.34-5.24,P=0.03,I2=0%].Additionally,a significant reduction of 0.31 in myocardial iron concentration was observed with amlodipine treatment compared to the control group[95%CI:-0.38-(-0.25),P<0.00001,I2=0%].Liver iron concentration was slightly lower in the amlodipine group by-0.04 mg/g,but this difference was not statistically significant(95%CI:-0.33-0.24,P=0.77,I2=0%).Amlodipine also showed a non-significant trend toward a reduction in serum ferritin levels(-328.86 ng/mL,95%CI:-1212.34-554.62,P=0.47,I2=90%).Regarding safety,there were no significant differences between the groups in the incidence of gastrointestinal upset,hypotension,or lower limb edema.CONCLUSION Amlodipine with iron chelation therapy significantly improved cardiac parameters,including cardiac-T2 and myocardial iron,in patients with transfusion-dependent thalassemia without causing significant adverse events but enhancing the efficacy of iron chelation therapy.
