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 Blood samples were withdrawn for measuring the serum cortisol, parathyroid and Ferritin.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
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
Background: Major β-thalassemia occurs when impaired genes received by a neonate from the parents. In most of the parents, there are no apparent clinical manifestation and they just show some impairments in hematolog...Background: Major β-thalassemia occurs when impaired genes received by a neonate from the parents. In most of the parents, there are no apparent clinical manifestation and they just show some impairments in hematological indices. This study was designed to determine prevalence of minor and silent carries parents that have children suffering from major β-thalassemia, compare it with national protocol about prevention of thalassemia. Methods: A blood sample was taken from parents of all major thalassemic patients covered by TaleghaniHospitalin Gorgan (n = 195), CBC and Hemoglobin electrophoresis were done. Data were analyzed using SPSS software. Results: Amongst 196 parents one case have normal level of MCV, MCH, RBC, HbA, HbF and mentzer = 22.05 (0.51%) that diagnosed as alpha triplication/N by real time PCR, RFLP informative. The means of hematological indices were based on the national protocol. Conclusion: Present results showed that there are a few cases of thalassemia disorders with normal MCV, MCH, RBC, Mentzer index and Hb electrophoresis which could be missed in routine and pre-marital screening tests, resulted in a thalassemia child that it is possible in every screening test. Generally, indices were according to range of the national guideline.展开更多
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.
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.
文摘Background: Major β-thalassemia occurs when impaired genes received by a neonate from the parents. In most of the parents, there are no apparent clinical manifestation and they just show some impairments in hematological indices. This study was designed to determine prevalence of minor and silent carries parents that have children suffering from major β-thalassemia, compare it with national protocol about prevention of thalassemia. Methods: A blood sample was taken from parents of all major thalassemic patients covered by TaleghaniHospitalin Gorgan (n = 195), CBC and Hemoglobin electrophoresis were done. Data were analyzed using SPSS software. Results: Amongst 196 parents one case have normal level of MCV, MCH, RBC, HbA, HbF and mentzer = 22.05 (0.51%) that diagnosed as alpha triplication/N by real time PCR, RFLP informative. The means of hematological indices were based on the national protocol. Conclusion: Present results showed that there are a few cases of thalassemia disorders with normal MCV, MCH, RBC, Mentzer index and Hb electrophoresis which could be missed in routine and pre-marital screening tests, resulted in a thalassemia child that it is possible in every screening test. Generally, indices were according to range of the national guideline.
