Iron deficiency anemia and iron overload conditions affect more than one billion people worldwide.Iron homeostasis involves the regulation of cells that export iron into the plasma and cells that utilize or store iron...Iron deficiency anemia and iron overload conditions affect more than one billion people worldwide.Iron homeostasis involves the regulation of cells that export iron into the plasma and cells that utilize or store iron.The cellular iron balance in humans is primarily mediated by the hepcidin-ferroportin axis.Ferroportin is the sole cellular iron export protein,and its expression is regulated transcriptionally,post-transcriptionally and posttranslationally.Hepcidin,a hormone produced by liver cells,post-translationally regulates ferroportin expression on iron exporting cells by binding with ferroportin and promoting its internalization by endocytosis and subsequent degradation by lysosomes.Dysregulation of iron homeostasis leading to iron deposition in vital organs is the main cause of death in betathalassemia patients.Beta-thalassemia patients show marked hepcidin suppression,ineffective eiythropoiesis,anemia and iron overload.Beta-thalassemia is common in the Mediterranean region,Southeast Asia and the Indian subcontinent,and the focus of this review is to provide an update on the factors mediating hepcidin related iron dysregulation in beta-thalassemia disease.Understanding this process may pave the way for new treatments to ameliorate iron overloading and improve the long term prognosis of these patients.展开更多
Beta(β)-thalassemia is one of the most common hemoglobinopathies worldwide,creating major public health problems and social burdens in many regions.Screening forβ-thalassemia carriers is crucial for controlling this...Beta(β)-thalassemia is one of the most common hemoglobinopathies worldwide,creating major public health problems and social burdens in many regions.Screening forβ-thalassemia carriers is crucial for controlling this condition.To investigate the?effectiveness?of?mean?corpuscular?volume?(MCV)and mean corpuscular hemoglobin(MCH)for screeningβ-thalassemia,retrospective data were analyzed for 6,779β-thalassemia carriers subjected to genetic testing following thalassemia screening in Guangdong province between January 2018 and December 2019.展开更多
Background: Adrenal and parathyroid insufficiency are uncommon in patients with transfusion dependent Beta Thalassemia (β-TM). Further, myocardial echocardiographic abnormalities are recognized but with a variable ou...Background: Adrenal and parathyroid insufficiency are uncommon in patients with transfusion dependent Beta Thalassemia (β-TM). Further, myocardial echocardiographic abnormalities are recognized but with a variable outcomes Aim: The aim is to determine the prevalence of adrenal and parathyroid insufficiency in patient with transfusion dependent β-TM. And to assess left ventricle systolic and diastolic function using Pulsed Doppler (PD) and Tissue Doppler (DT) echocardiogram. Methods:The study was conducted on patients with β-TM (n = 99, age 15.92 ± 8.92 years) and compared with an age-matched controls (n = 98 age 15.79 ± 8.94 years). In all participants echocardiographic indices of M mode and PD and TD were performed. Blood samples were withdrawn for measuring the serum cortisol, parathyroid and Ferritin. Correlation between the level of cortisol and ferritin level was evaluated. Results: Patients with β-TM compared with controls, had significantly thicker LV septal wall index of 0.65 ± 0.26 vs 0.44 ± 0.2190, p 0.001 and LV posterior wall of 0.65 ± 0.235 vs 0.43 ± 0.214, p ± 5.5 vs 5.0 ± 5.6, p = 0.23. Furthermore patients with β-TM had higher E/A ratio (1.54 ± 0.18 vs 1.23 ± 0.17, p 0.01) and shorter deceleration time (DT) (170.53 ± 13.3 vs 210.50 ± 19.20 m sec, p 0.01). The ratio of transmitral E wave velocity to the tissue Doppler E wave at the basal septal mitral annulus (E/Em) was significantly higher in β-TM group (19.68 ± 2.81 vs 13.86 ± 1.41, p 0.05). The tissue Doppler systolic wave (Sm) velocity and the early diastolic wave (Em) were significantly lower in β-TM group compared with controls with Sm, of 4.82 ± 1.2 vs 6.22 ± 2.1 cm/sec, p 0.05 and (Em) of 3.51 ± 2.7 vs 4.12 ± 2.5 cm/sec p 0.05, respectively). The tricuspid valve velocity was significantly higher in β-TM patients compared with controls (2.85 ± 0.56 vs 1.743 ± 0.47 m/sec, respectively, p 0.01). The prevalence of adrenal insufficiency in patients with β-TM was 16%, hypoparathyroidism of 4.5% weak negative correlation between serum level of cortisol and the serum Ferritin. Conclusion: Patients with β-thalassemia major had a high prevalence of subclinical adrenal insufficiency of 16%, hypoparathyroidism of 4.5% with weak negative correlation between the low level of cortisol ≤160 nmol/L and high serum ferritin. Echocardiographic Pulsed Doppler showed a restrictive LV diastolic pattern suggestive of advanced diastolic dysfunction but preserved left ventricle systolic function.展开更多
Haemoglobinopathies are very serious clinical conditions caused by genetic mutations. They belong to autosomal recessive disorders and the most frequent genetic inherited diseases seen, specifically and above all amon...Haemoglobinopathies are very serious clinical conditions caused by genetic mutations. They belong to autosomal recessive disorders and the most frequent genetic inherited diseases seen, specifically and above all among Mediterranean countries. Thalassaemia syndromes (included Beta Thalassaemia and Sickle Cell Disease) have been the first diagnosed diseases since in intrauterine life using reccombinant DNA techniques. So, the better understanding of their pathophysiology has given a spectacolar improvement and a considerable impact on these conditional managements. Every year there are nearly 300,000 children born with haemoglobinopathies globally, and there are 60,000 - 70,000 children with Beta Thalassemia among them. Nowadays in Albania like everywhere, there is a significant increase of survival in these patients. As a result of life longevity and improvement of patients life quality, we can see that these patients may suffer from other concomitant illnesses. In our country, there are registered approximately 500 patients with haemoglobinopathies. We studied 50 pediatric patients at random ranging from age 2 until 18 years old. We excluded other pathologies among them. We found high values of biochemical indicators in blood (Ca 15-3 was found elevated in 75% of our patients, Lactate Dehydrogenases was found elevated in 70% of cases, Indirect Bilirubin was found elevated in 66% of cases). All three parameters are indicators of hemolysis. We found a correlation between high values of Ca 15-3 marker and high levels of LDH, Indirect Bilirubin and low level of hemoglobin (p < 0.05). Ca 15-3 is much elevated among patients non regularly transfused and in those who take an unsufficient amount of blood. Continuous monitoring of these biochemical parameters is going to help in the more effective follow up of patients with haemoglobinopathies.展开更多
Background: The most common causes of microcytic hypochromic anemia are iron deficiency anemia (IDA) and the beta-thalassemia trait (β-TT). The aim of the work is to compare the validity of the various simple indices...Background: The most common causes of microcytic hypochromic anemia are iron deficiency anemia (IDA) and the beta-thalassemia trait (β-TT). The aim of the work is to compare the validity of the various simple indices to differentiate between iron deficiency anemia and β-thalassemia trait. Subjects and methods: A total of 2000 individuals were screened, by complete blood picture, measurement of serum iron, serum ferritin and hemoglobin separation;224 patients were detected as having hypochromia and microcytosis. Among them 166 cases were IDA and 58 cases were β-TT. We calculated 11 discrimination indices. The number of correctly identified cases were determined, sensitivity, specificity, positive and negative predictive value and Youden’s index (YI) of each discrimination index was calculated. Results: The percentage of correctly diagnosed patients is highest for Matos and Carvalho index (MCI) (95.5%) which is closely followed by Red cell distribution width index (RDWI) (93.7%). The third high index was Green and King (GKI) (91.9%). Sensitivity, specificity of MCI for detection of IDA was found 98.8%, 87.9% respectively. For β-TT, sensitivity and specificity was found 86.2% and 98.8% respectively. The YI of MCI was found 85.9%. It is followed by RDWI;its sensitivity and specificity for detection of IDA was found 97.6%, 85.3%. For β-TT, sensitivity and specificity was found 82.7% and 97.6% respectively. The YI of RDWI was 81.6%. Conclusion: Matos and Carvalho index and RDWI are easily available automated cell-count-based indices coming out as good discriminator between IDA and β-TT in our study.展开更多
A five-year old Iraqi patient with beta thalassemia major was presented with recurrent attack of Bell＇s palsy on 2 successive years being a milder one in the second year. This is a rare occurrence in beta thalassemia...A five-year old Iraqi patient with beta thalassemia major was presented with recurrent attack of Bell＇s palsy on 2 successive years being a milder one in the second year. This is a rare occurrence in beta thalassemia major patients and needs to be further explored. This is a case report of a nine-year old Iraqi child who is the only child born to parents of secondary consanguinity relatives from Babil Province who was diagnosed as beta thalassemia on the age of 6 months and is on regular blood transfusion and iron chelation therapy of deferasirox tablets （Exjade）, his medical follow up takes place at Babil Thalassemia center in Babil Maternity and Child Hospital. On the age of five years, he was presented with a sudden onset of right sided Bell＇s palsy within twenty four hours of swimming in a cool swimming pool at his home in July 2011. A neurosurgeon examined him at that time, no investigations were done, the diagnosis was purely clinical, steroid ＆ neurotonics were recommended as a treatment for the condition, antiviral agents were not prescribed, lacrimation ＆ taste were not affected, there was a slow improvement, two weeks later physiotherapy sessions including facial massage ad electric stimulation were recommended after which the child improved. The next year, another attach of Bell＇s Palsy developed at a similar time with the same sequel of events, this time the attack was milder and with residual effects seen in the eye ＆ mouth. This coincidence of beta thalassemia and Bell＇s palsy should be further studied by observational epidemiologic studies to prove or disprove the hypothesis that thalassemic patients especially children are at higher risk of developing Bell＇s palsy than healthy children. Beta thalassemia patients may be at higher risk of developing Bell＇s Palsy.展开更多
Repeated blood transfusions in thalassemia patients is followed by endo-crinopathies as diabetes,hypothyroidism,hypogonadism,hypoparathy-roidism,and disorders in calcium and vitamin D homeostasis.The aim of this study...Repeated blood transfusions in thalassemia patients is followed by endo-crinopathies as diabetes,hypothyroidism,hypogonadism,hypoparathy-roidism,and disorders in calcium and vitamin D homeostasis.The aim of this study was to evaluate the association of beta-thalassemia patients endocrinopathies and osteoporosis.Serum level of some factors related to the function of gonads,thyroid,adrenal,and pancreas along with serum levels of calcium,phosphate,albumin,vitamin D,and iron were measured.Bone marrow density was tested via dualenergy x-ray absorptiometry(DXA densitometry).In this study,56 patients with major thalassemia were investigated.Paraclinical analysis indicated osteopenia in 17(30.4%)and osteoporosis in 39 patients(69.6%)in addition to other types of endocrine disorders,such as hypogonadism in 29(51.8%),hypothyroidism in 13(23.2%),hypoparathyroidism in 1(1.8%),hypocortisolism in 2(3.6%),and diabetes in 9(16.1%)patients.Endocrinopathies had no signifi cant relationship with osteoporosis and osteopenia in men.However,hypogonadism had a significant relationship with osteoporosis and osteopenia in women with thalassemia.Estradiol level was lower in women with osteoporosis in comparison with women with osteopenia.Ferritin levels had neither association with osteoporosis nor with LH levels(P>0.05).Secondary hypogonadism disorders are the main causes of osteoporosis and osteopenia in female beta-thalassemia patients.展开更多
The conversion of acetone derived from biomass to isobutene has attracted extensive attentions.In comparison with Brønsted acidic catalyst,Lewis acidic catalyst could exhibit a better catalytic performance with a...The conversion of acetone derived from biomass to isobutene has attracted extensive attentions.In comparison with Brønsted acidic catalyst,Lewis acidic catalyst could exhibit a better catalytic performance with a higher isobutene selectivity.However,the catalyst stability remains a key problem for the long-running acetone conversion and the reasons for catalyst deactivation are poorly understood up to now.Herein,the deactivation mechanism of Lewis acidic Y/Beta catalyst during the acetone to isobutene conversion was investigated by various characterization techniques,including acetone-temperature-programmed surface reaction,gas chromatography-mass spectrometry,in situ ultraviolet-visible,and ^(13)C cross polarization magic angle spinning nuclear magnetic resonance spectroscopy.A successive aldol condensation and cyclization were observed as the main side-reactions during the acetone conversion at Lewis acidic Y sites.In comparison with the low reaction temperature,a rapid formation and accumulation of the larger cyclic unsaturated aldehydes/ketones and aromatics could be observed,and which could strongly adsorb on the Lewis acidic sites,and thus cause the catalyst deactivation eventually.After a simple calcination,the coke deposits could be easily removed and the catalytic activity could be well restored.展开更多
基金supported by the Thailand Research Fund(BRG5780004, IRG5780009 and IRN58W0002)by a Research Chair Grant from the National Science and Technology Development Agency(NSTDA)supported by a Thai Royal Golden Jubilee Ph.D.Research Scholarship(PHD/0101/2553)
文摘Iron deficiency anemia and iron overload conditions affect more than one billion people worldwide.Iron homeostasis involves the regulation of cells that export iron into the plasma and cells that utilize or store iron.The cellular iron balance in humans is primarily mediated by the hepcidin-ferroportin axis.Ferroportin is the sole cellular iron export protein,and its expression is regulated transcriptionally,post-transcriptionally and posttranslationally.Hepcidin,a hormone produced by liver cells,post-translationally regulates ferroportin expression on iron exporting cells by binding with ferroportin and promoting its internalization by endocytosis and subsequent degradation by lysosomes.Dysregulation of iron homeostasis leading to iron deposition in vital organs is the main cause of death in betathalassemia patients.Beta-thalassemia patients show marked hepcidin suppression,ineffective eiythropoiesis,anemia and iron overload.Beta-thalassemia is common in the Mediterranean region,Southeast Asia and the Indian subcontinent,and the focus of this review is to provide an update on the factors mediating hepcidin related iron dysregulation in beta-thalassemia disease.Understanding this process may pave the way for new treatments to ameliorate iron overloading and improve the long term prognosis of these patients.
基金the Data quality evaluation study of the national free preconception eugenics health screening program[No.C2018033].
文摘Beta(β)-thalassemia is one of the most common hemoglobinopathies worldwide,creating major public health problems and social burdens in many regions.Screening forβ-thalassemia carriers is crucial for controlling this condition.To investigate the?effectiveness?of?mean?corpuscular?volume?(MCV)and mean corpuscular hemoglobin(MCH)for screeningβ-thalassemia,retrospective data were analyzed for 6,779β-thalassemia carriers subjected to genetic testing following thalassemia screening in Guangdong province between January 2018 and December 2019.
文摘Background: Adrenal and parathyroid insufficiency are uncommon in patients with transfusion dependent Beta Thalassemia (β-TM). Further, myocardial echocardiographic abnormalities are recognized but with a variable outcomes Aim: The aim is to determine the prevalence of adrenal and parathyroid insufficiency in patient with transfusion dependent β-TM. And to assess left ventricle systolic and diastolic function using Pulsed Doppler (PD) and Tissue Doppler (DT) echocardiogram. Methods:The study was conducted on patients with β-TM (n = 99, age 15.92 ± 8.92 years) and compared with an age-matched controls (n = 98 age 15.79 ± 8.94 years). In all participants echocardiographic indices of M mode and PD and TD were performed. Blood samples were withdrawn for measuring the serum cortisol, parathyroid and Ferritin. Correlation between the level of cortisol and ferritin level was evaluated. Results: Patients with β-TM compared with controls, had significantly thicker LV septal wall index of 0.65 ± 0.26 vs 0.44 ± 0.2190, p 0.001 and LV posterior wall of 0.65 ± 0.235 vs 0.43 ± 0.214, p ± 5.5 vs 5.0 ± 5.6, p = 0.23. Furthermore patients with β-TM had higher E/A ratio (1.54 ± 0.18 vs 1.23 ± 0.17, p 0.01) and shorter deceleration time (DT) (170.53 ± 13.3 vs 210.50 ± 19.20 m sec, p 0.01). The ratio of transmitral E wave velocity to the tissue Doppler E wave at the basal septal mitral annulus (E/Em) was significantly higher in β-TM group (19.68 ± 2.81 vs 13.86 ± 1.41, p 0.05). The tissue Doppler systolic wave (Sm) velocity and the early diastolic wave (Em) were significantly lower in β-TM group compared with controls with Sm, of 4.82 ± 1.2 vs 6.22 ± 2.1 cm/sec, p 0.05 and (Em) of 3.51 ± 2.7 vs 4.12 ± 2.5 cm/sec p 0.05, respectively). The tricuspid valve velocity was significantly higher in β-TM patients compared with controls (2.85 ± 0.56 vs 1.743 ± 0.47 m/sec, respectively, p 0.01). The prevalence of adrenal insufficiency in patients with β-TM was 16%, hypoparathyroidism of 4.5% weak negative correlation between serum level of cortisol and the serum Ferritin. Conclusion: Patients with β-thalassemia major had a high prevalence of subclinical adrenal insufficiency of 16%, hypoparathyroidism of 4.5% with weak negative correlation between the low level of cortisol ≤160 nmol/L and high serum ferritin. Echocardiographic Pulsed Doppler showed a restrictive LV diastolic pattern suggestive of advanced diastolic dysfunction but preserved left ventricle systolic function.
文摘Haemoglobinopathies are very serious clinical conditions caused by genetic mutations. They belong to autosomal recessive disorders and the most frequent genetic inherited diseases seen, specifically and above all among Mediterranean countries. Thalassaemia syndromes (included Beta Thalassaemia and Sickle Cell Disease) have been the first diagnosed diseases since in intrauterine life using reccombinant DNA techniques. So, the better understanding of their pathophysiology has given a spectacolar improvement and a considerable impact on these conditional managements. Every year there are nearly 300,000 children born with haemoglobinopathies globally, and there are 60,000 - 70,000 children with Beta Thalassemia among them. Nowadays in Albania like everywhere, there is a significant increase of survival in these patients. As a result of life longevity and improvement of patients life quality, we can see that these patients may suffer from other concomitant illnesses. In our country, there are registered approximately 500 patients with haemoglobinopathies. We studied 50 pediatric patients at random ranging from age 2 until 18 years old. We excluded other pathologies among them. We found high values of biochemical indicators in blood (Ca 15-3 was found elevated in 75% of our patients, Lactate Dehydrogenases was found elevated in 70% of cases, Indirect Bilirubin was found elevated in 66% of cases). All three parameters are indicators of hemolysis. We found a correlation between high values of Ca 15-3 marker and high levels of LDH, Indirect Bilirubin and low level of hemoglobin (p < 0.05). Ca 15-3 is much elevated among patients non regularly transfused and in those who take an unsufficient amount of blood. Continuous monitoring of these biochemical parameters is going to help in the more effective follow up of patients with haemoglobinopathies.
文摘Background: The most common causes of microcytic hypochromic anemia are iron deficiency anemia (IDA) and the beta-thalassemia trait (β-TT). The aim of the work is to compare the validity of the various simple indices to differentiate between iron deficiency anemia and β-thalassemia trait. Subjects and methods: A total of 2000 individuals were screened, by complete blood picture, measurement of serum iron, serum ferritin and hemoglobin separation;224 patients were detected as having hypochromia and microcytosis. Among them 166 cases were IDA and 58 cases were β-TT. We calculated 11 discrimination indices. The number of correctly identified cases were determined, sensitivity, specificity, positive and negative predictive value and Youden’s index (YI) of each discrimination index was calculated. Results: The percentage of correctly diagnosed patients is highest for Matos and Carvalho index (MCI) (95.5%) which is closely followed by Red cell distribution width index (RDWI) (93.7%). The third high index was Green and King (GKI) (91.9%). Sensitivity, specificity of MCI for detection of IDA was found 98.8%, 87.9% respectively. For β-TT, sensitivity and specificity was found 86.2% and 98.8% respectively. The YI of MCI was found 85.9%. It is followed by RDWI;its sensitivity and specificity for detection of IDA was found 97.6%, 85.3%. For β-TT, sensitivity and specificity was found 82.7% and 97.6% respectively. The YI of RDWI was 81.6%. Conclusion: Matos and Carvalho index and RDWI are easily available automated cell-count-based indices coming out as good discriminator between IDA and β-TT in our study.
文摘A five-year old Iraqi patient with beta thalassemia major was presented with recurrent attack of Bell＇s palsy on 2 successive years being a milder one in the second year. This is a rare occurrence in beta thalassemia major patients and needs to be further explored. This is a case report of a nine-year old Iraqi child who is the only child born to parents of secondary consanguinity relatives from Babil Province who was diagnosed as beta thalassemia on the age of 6 months and is on regular blood transfusion and iron chelation therapy of deferasirox tablets （Exjade）, his medical follow up takes place at Babil Thalassemia center in Babil Maternity and Child Hospital. On the age of five years, he was presented with a sudden onset of right sided Bell＇s palsy within twenty four hours of swimming in a cool swimming pool at his home in July 2011. A neurosurgeon examined him at that time, no investigations were done, the diagnosis was purely clinical, steroid ＆ neurotonics were recommended as a treatment for the condition, antiviral agents were not prescribed, lacrimation ＆ taste were not affected, there was a slow improvement, two weeks later physiotherapy sessions including facial massage ad electric stimulation were recommended after which the child improved. The next year, another attach of Bell＇s Palsy developed at a similar time with the same sequel of events, this time the attack was milder and with residual effects seen in the eye ＆ mouth. This coincidence of beta thalassemia and Bell＇s palsy should be further studied by observational epidemiologic studies to prove or disprove the hypothesis that thalassemic patients especially children are at higher risk of developing Bell＇s palsy than healthy children. Beta thalassemia patients may be at higher risk of developing Bell＇s Palsy.
文摘Repeated blood transfusions in thalassemia patients is followed by endo-crinopathies as diabetes,hypothyroidism,hypogonadism,hypoparathy-roidism,and disorders in calcium and vitamin D homeostasis.The aim of this study was to evaluate the association of beta-thalassemia patients endocrinopathies and osteoporosis.Serum level of some factors related to the function of gonads,thyroid,adrenal,and pancreas along with serum levels of calcium,phosphate,albumin,vitamin D,and iron were measured.Bone marrow density was tested via dualenergy x-ray absorptiometry(DXA densitometry).In this study,56 patients with major thalassemia were investigated.Paraclinical analysis indicated osteopenia in 17(30.4%)and osteoporosis in 39 patients(69.6%)in addition to other types of endocrine disorders,such as hypogonadism in 29(51.8%),hypothyroidism in 13(23.2%),hypoparathyroidism in 1(1.8%),hypocortisolism in 2(3.6%),and diabetes in 9(16.1%)patients.Endocrinopathies had no signifi cant relationship with osteoporosis and osteopenia in men.However,hypogonadism had a significant relationship with osteoporosis and osteopenia in women with thalassemia.Estradiol level was lower in women with osteoporosis in comparison with women with osteopenia.Ferritin levels had neither association with osteoporosis nor with LH levels(P>0.05).Secondary hypogonadism disorders are the main causes of osteoporosis and osteopenia in female beta-thalassemia patients.
文摘The conversion of acetone derived from biomass to isobutene has attracted extensive attentions.In comparison with Brønsted acidic catalyst,Lewis acidic catalyst could exhibit a better catalytic performance with a higher isobutene selectivity.However,the catalyst stability remains a key problem for the long-running acetone conversion and the reasons for catalyst deactivation are poorly understood up to now.Herein,the deactivation mechanism of Lewis acidic Y/Beta catalyst during the acetone to isobutene conversion was investigated by various characterization techniques,including acetone-temperature-programmed surface reaction,gas chromatography-mass spectrometry,in situ ultraviolet-visible,and ^(13)C cross polarization magic angle spinning nuclear magnetic resonance spectroscopy.A successive aldol condensation and cyclization were observed as the main side-reactions during the acetone conversion at Lewis acidic Y sites.In comparison with the low reaction temperature,a rapid formation and accumulation of the larger cyclic unsaturated aldehydes/ketones and aromatics could be observed,and which could strongly adsorb on the Lewis acidic sites,and thus cause the catalyst deactivation eventually.After a simple calcination,the coke deposits could be easily removed and the catalytic activity could be well restored.
