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31.
Kanj N Shamseddine A Gharzeddine W Kanj M Nasr TA Koussa S Jibrail J Taher A 《European journal of haematology》2000,64(6):396-400
We studied 36 patients (17 males and 19 females) with thalassemia major by performing pulmonary function testing (PFT), arterial blood gas analysis (ABG), as well as determining the serum ferritin level. In addition, 19 of these patients were transfused with two units of packed cells, and a repeat ABG and PFT were performed. Twenty-three patients had normal PFTs, eleven patients (30.6%) showed a restrictive pattern (significant decrease in both TLC and DLCO), and only two patients (5.6%) showed an obstructive pattern. A significant negative correlation was found between serum ferritin and restrictive parameters, DLCO and TLC (p = 0.01 and p = 0.03, respectively). This correlation was even stronger after transfusion. Controlling for age, ferritin was still negatively correlated with DLCO (p = 0.04), but no longer with TLC. There was no correlation between age and DLCO or age and TLC; however, there was a statistically significant negative correlation between age and FVC (p = 0.003). Analysis of patients who were transfused revealed a significant decrease in forced vital capacity (89 +/- 4% vs. 74 +/- 5% of predicted; p-value < 0.001) and in maximum midexpiratory flow rate (79 +/- 4% vs. 67 +/- 5% of predicted; p-value = 0.004). For patients older than 15 yr of age, there was a statistically significant decrease in FEV1/FVC (84 +/- 2 vs. 83 +/- 2%; p-value = 0.04). The ABGs showed no significant change post-transfusion. In this study, PFT findings in thalassemia major were restrictive and correlated with serum ferritin level. Transfusion had an acute effect on the obstructive parameters of PFT. 相似文献
32.
《Transfusion and apheresis science》2023,62(3):103620
BackgroundA splenectomy can reduce transfusion requirements in patients with thalassemia. However, the role of a splenectomy remains controversial because its efficacy has not yet been fully determined and there are concerns over potential complications. The purpose of this study was to assess the efficacy, potential changes in hematologic parameters, and any complications associated with splenectomy.MethodsMedical records of 50 patients with transfusion-dependent thalassemia (TDT) who had undergone a splenectomy, along with those of 20 control subjects with intact spleens, were retrospectively reviewed.ResultsThe primary outcomes indicate the efficacy of a splenectomy in reducing red cell transfusions. Fifty TDT post-splenectomy patients were included in this study, of which 28 (56%) were female. The median age of all patients was 20.5 (18–28 years of age). Twenty-seven patients (54%) transformed from TDT to non-transfusion-dependent thalassemia (NTDT) after the splenectomy; 100% with Hb H disease, 58.3% with beta-thalassemia/Hb E disease, and 23.5% with homozygous beta-thalassemia. According to multivariable logistic regression analysis, Hb H disease (adjusted OR 55.23, 95% CI 1.35–22.8.10) and receiving a splenectomy at > ten years of age (adjusted OR 25.36, 95% CI 1.62–396.47) were associated with higher responses. The prevalence of pulmonary hypertension and thromboembolic events were similar between the splenectomy patients and non-splenectomy patients.ConclusionSplenectomy reduced transfusion requirements in TDT patients. The predictive factors as a response to a splenectomy included Hb H disease amongthose receiving a splenectomy at > ten years of age. 相似文献
33.
��־Ȫ�������� 《中国实用儿科杂志》2014,29(11):810-814
??Abstract??Congenital hemolytic anemia ??CHA?? is a hereditary disorder with main clinical presentation of hemolytic anemia??It is the most common disease of hereditary disorders in the world. According to the pathogenic mechanism??the disorders can be divided into three groups??abnormalities of the red cell membrane??red cell enzyme disorders and hemoglobinopathies.The most common CHA are hereditary spherocytosis??G-6-PD deficiency and the thalassemias??This article focuses on the management of these three types of diseases. 相似文献
34.
35.
Amos Toren Reuven Or Joseph Kapelushnik Gabriel Chividalli Memet Aku Shimon Slavin Arnon Nagler 《American journal of hematology》1996,51(2):166-167
Serum lactic dehydrogenase (LDH) levels are mildly elevated in β-thalassemia major due to ineffective erythropoiesis. We reviewed the charts of 15 consecutive thalassemic children who underwent allogeneic, T-cell-depleted bone marrow transplantation (BMT) in our department during the last 3 years. Eleven patients had successful engraftment and are alive and well without evidence of disease, according to physical examinations, blood counts, and polymerase chain reaction (PCR) tests, with a median follow-up of 2 years. Two patients died due to transplantation-related complications, and two rejected the graft and received their backup autologous marrow. The LDH levels in the transplanted patients gradually decreased from an average of 952 ± 155 IU/L 10 days pre-transplant (N = 300–620) to 426 ± 56 IU/L at the day of transplantation, and stayed at approximately the same level post-transplant (489 ± 55 IU/L). By contrast, the LDH levels reverted to the pre-transplant value in those patients who rejected their marrow. The significance of this clinical observation for the pathophysiologic mechanism of intramedullary hemolysis and ineffective erythropoiesis in β-thalassemia major is discussed. © 1996 Wiley-Liss, Inc. 相似文献
36.
Kenneth W. Dumars Corinne Boehm James R. Eckman Patricia J. Giardina Peter A. Lane Frank E. Shafer 《American journal of medical genetics. Part A》1996,62(1):29-37
Thalassemias occur in individuals of all ethnic backgrounds and are among the most common genetic diseases worldwide. The diagnosis of thalassemia can easily be part of primary medical practice. Here we outline a practical approach to the detection of thalassemias in three common clinical settings. The first involves any patient with a low mean corpuscular volume (MCV) with or without anemia. The second is a neonatal screening result indicating possible presence of thalassemia. Finally, evaluation for thalassemia should be considered in the context of family planning or pregnancy in patients whose ethnicity indicates origin from high risk geographic areas. We also review the various types of the thalassemia syndromes and provide an overview of general therapeutic considerations. © 1996 Wiley-Liss, Inc. 相似文献
37.
Maria Pia Villa Pier Luigi Rotili Francesca Santamaria Andrea Vania Enea Bonci Giancarlo Tancredi Roberto Ronchetti 《Pediatric pulmonology》1996,21(6):367-372
Patients with thalassemia who are on chronic transfusion programs have chronic ventilatory and cardiocirculatory abnormalities. We studied flow-volume curves, blood gas exchange, and cardiorespiratory responses to exercise in 12 patients with thalassemia major (TM) before and 24 hours after transfusions. Cardiorespiratory fitness was assessed with an exercise tolerance test on a cycle-ergometer. Ten healthy controls underwent the same protocol twice, first at baseline and then 24 hours later, without having had transfusions. We identified two subgroups of patients with a questionnaire: 1) those with no history of airway disease; and 2) those with a history of airway obstruction. Patients with no history of airway disease had normal baseline expiratory flows and no posttransfusion changes; those with a history of airway obstruction had lower pretransfusion expiratory flows rates and significantly decreased posttransfusion forced expiratory volume in 1 second (FEV1) and forced expiratory flow at 25–75% of forced vital capacity (FEV25–75%). As a group, TM patients had significantly lower pretransfusion cardiorespiratory function than controls; TM patients' maximum workload was 33% lower, maximum ventilation was 38% lower, maximum oxygen uptake was 25.7% lower, oxygen pulse was 28.6% lower, dyspnea index was 10.6% lower, and ventilatory equivalent for oxygen was 27.1% lower than in control subjects. Although cardiorespiratory responses to exercise improved in both subgroups after transfusion, patients with a history of airways obstruction had a significant posttransfusion increase in their dyspnea index (P = 0.05) and further increased their already abnormally high values of PETCO2 (43 mmHg). These results suggest that the transfusion worsened relative hypoventilation at the maximum workload only in the subgroup with a history of airway obstruction. Pediatr Pulmonol. 1996; 21:367–372. © 1996 Wiley-Liss, Inc. 相似文献
38.
Abnormal iron accumulation in vital organs is one of the major complications of β‐thalassemia intermedia (β‐TI). Silymarin, a flavonolignan isolated from Silybum marianum, significantly decreases the serum ferritin levels of β‐TI patients. This finding suggests silymarin as a safe and effective natural iron‐chelating agent for the treatment of iron‐overloaded conditions. 相似文献
39.
目的:了解湖南省郴州市苏仙、北湖两区孕妇地中海贫血(简称地贫)携带率、基因突变频率及构成比.方法:采用高通量测序技术对11 212例样本进行地贫基因分析.结果:检出地贫患者938例,其中a-地贫618例,β-地贫268例,异常血红蛋白29例,αβ-复合地贫23例,检出率分别为5.51%、2.39%、0.26%、0.21... 相似文献
40.
目的:探讨小细胞或低色素人群中Ret-He和RBC在地中海贫血中的分布情况及联合HbA2对地中海贫血检测的价值。方法:选取本院2018年5月-2019年12月门诊检测出或住院的小细胞或低色素患者145例,将其分为地贫组(68例)及非地贫组(77例),并同时按贫血程度将患者分为非贫血、轻度贫血、中度贫血及重度贫血共4组,对患者进行Ret-He、RBC、RDW-CV及HbA2检测,比较各项参数的分布情况,并分析RBC、Ret-He与HbA2联合检测以辅助诊断地中海贫血的灵敏度特异度。结果:在小细胞或低色素患者中,根据贫血程度分级,Ret-He从非贫血组至重度贫血组逐渐下降(P<0.05);而RDW-CV则从轻度贫血组至重度贫血组逐渐上升(P<0.05);RBC及Ret-He在地贫组患者中均较非地贫组明显升高(P<0.05),而RDW-CV则在地贫组中较非地贫组明显降低(P<0.05);同时Ret-He在α-地贫中较β-地贫明显升高(P<0.05)。进行ROC曲线分析,Ret-He以19.25 pg为截断值,RBC以4.95×10^12/L为截断值时,联合HbA2,特异度为93.51%,灵敏度为66.18%,阳性预测值为90%,阴性预测值为75.189%。结论:在小细胞或低色素患者中,RBC、Ret-He及RDW-CV在地贫组及非地贫组的分布存在差异,并受贫血程度影响。加入Ret-He及RBC可提高小细胞或低色素患者依靠HbA2进行地中海贫血初筛时的特异度。 相似文献