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Hematopoietic stem cell transplantation for people with sickle cell disease.


  • 影响因子:6.1030
  • DOI:10.1002/14651858.CD007001.pub5
  • 作者列表:"Oringanje C","Nemecek E","Oniyangi O
  • 发表时间:2020-07-03

BACKGROUND:Sickle cell disease is a genetic disorder involving a defect in the red blood cells due to its sickled hemoglobin. The main therapeutic interventions include preventive and supportive measures. Hematopoietic stem cell transplantations are carried out with the aim of replacing the defective cells and their progenitors (hematopoietic (i.e. blood forming) stem cells) in order to correct the disorder. This is an update of a previously published review. OBJECTIVES:To determine whether stem cell transplantation can improve survival and prevent symptoms and complications associated with sickle cell disease. To examine the risks of stem cell transplantation against the potential long-term gain for people with sickle cell disease. SEARCH METHODS:We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Group's Haemoglobinopathies Trials Register complied from electronic searches of the Cochrane Central Register of Controlled Trials (CENTRAL) (updated each new issue of the Cochrane Library) and quarterly searches of MEDLINE. We also searched trial registries for ongoing trials up to April 2020. Date of the most recent search of the Group's Haemoglobinopathies Trials Register: 09 December 2019. SELECTION CRITERIA:Randomized controlled and quasi-randomized trials that compared any method of stem cell transplantation with either each other or with any of the preventive or supportive interventions (e.g. periodic blood transfusion, use of hydroxyurea, antibiotics, pain relievers, supplemental oxygen) in people with sickle cell disease irrespective of the type of sickle cell disease, gender and setting. DATA COLLECTION AND ANALYSIS:No trials were eligible for inclusion in the review. MAIN RESULTS:We identified 12 potentially-eligible trials by the searches; we excluded 11 of these and the remaining trial is an ongoing trial that may be eligible for inclusion in a future version of the review. AUTHORS' CONCLUSIONS:Reports on the use of hematopoietic stem cell transplantation improving survival and preventing symptoms and complications associated with sickle cell disease are currently limited to observational and other less robust studies. We did not find any eligible randomized controlled trials assessing the benefit or risk of hematopoietic stem cell transplantations. However, there is an ongoing quasi-randomized trial comparing hematopoietic stem cell transplantation with standard care, Thus, this systematic review identifies the need for a multicentre randomized controlled trial assessing the benefits and possible risks of hematopoietic stem cell transplantations comparing sickle status and severity of disease in people with sickle cell disease.


背景: 镰状细胞病是一种遗传性疾病,由于其镰状血红蛋白导致红细胞缺陷。主要的治疗干预措施包括预防和支持措施。进行造血干细胞移植的目的是替换有缺陷的细胞及其祖细胞 (造血 (即血液形成) 干细胞),以纠正紊乱。这是以前发表的评论的更新。 目的: 确定干细胞移植是否可以改善生存率,预防镰状细胞病相关的症状和并发症。研究干细胞移植对镰状细胞病患者潜在长期获益的风险。 检索方法: 我们检索了Cochrane囊性纤维化和遗传性疾病组的血红蛋白病试验登记册,该试验登记册符合Cochrane中心对照试验登记册 (Central) 的电子检索 (Cochrane Library每期更新) 和MEDLINE的季度检索。我们还检索了截至2020年4月的试验注册中心。该组织血红蛋白病试验注册的最新搜索日期: 2019年12月9日。 选择标准: 比较任何干细胞移植方法的随机对照和半随机试验,或者相互比较,或者与任何预防或支持性干预 (例如g.定期输血,使用羟基脲,抗生素,止痛药,补充氧气) 在镰状细胞病患者中,无论镰状细胞病的类型,性别和设置。 数据收集和分析: 没有试验符合纳入审查的条件。 主要结果: 我们通过检索确定了12项潜在合格的试验; 我们排除了其中的11项,其余的试验是一项正在进行的试验,可能有资格纳入未来版本的综述. 作者的结论: 关于使用造血干细胞移植改善生存率和预防镰状细胞病相关症状和并发症的报道目前仅限于观察性和其他不太有力的研究。我们没有发现任何评估造血干细胞移植获益或风险的合格随机对照试验。然而,有一项正在进行的准随机试验将造血干细胞移植与标准治疗进行比较,因此,本系统综述确定需要一项多中心随机对照试验,评估造血干细胞移植的益处和可能的风险,比较镰状细胞病患者的镰状细胞状态和疾病严重程度.



作者列表:["Yang J","Peng CF","Qi Y","Rao XQ","Guo F","Hou Y","He W","Wu J","Chen YY","Zhao X","Wang YN","Peng H","Wang D","Du L","Luo MY","Huang QF","Liu HL","Yin A"]

METHODS:BACKGROUND:Thalassemia is one of the most common monogenetic diseases in the south of China and Southeast Asia. Hemoglobin Bart's hydrops fetalis syndrome was caused by a homozygous Southeast Asian deletion (-/-) in the HBA gene. Few studies have proved the potential of screen for Bart's hydrops fetalis using fetal cell-free DNA. However, the number of cases is still relatively small. Clinical trials of large samples would be needed. OBJECTIVE:In this study, we aimed to develop a noninvasive method of target-captured sequencing and genotyping by the Bayesian method using cell-free fetal DNA to identify the fetal genotype in pregnant women who are at risk of having hemoglobin Bart hydrops fetalis in a large-scale study. STUDY DESIGN:In total, 192,173 couples from 30 hospitals were enrolled in our study and 878 couples were recruited, among whom both the pregnant women and their husbands were detected to be carriers of Southeast Asian type (-/αα) of α-thalassemia. Prenatal diagnosis was performed by chorionic villus sampling, amniocentesis, or cordocentesis using gap-polymerase chain reaction considered as the golden standard. RESULTS:As a result, we found that the sensitivity and specificity of our noninvasive method were 98.81% and 94.72%, respectively, in the training set as well as 100% and 99.31%, respectively, in the testing set. Moreover, our method could identify all of 885 maternal samples with the Southeast Asian carrier and 36 trisomy samples with 100% of sensitivity in T13, T18, and T21 and 99.89% (1 of 917) and 99.88% (1 of 888) of specificity in T18 and T21, respectively. CONCLUSION:Our method opens the possibility of early screening for maternal genotyping of α-thalassemia, fetal aneuploidies in chromosomes 13/18/21, and hemoglobin Bart hydrops fetalis detection in 1 tube of maternal plasma.

作者列表:["Suarez ML","Schlaeger JM","Angulo V","Shuey DA","Carrasco J","Roach KL","Ezenwa MO","Yao Y","Wang ZJ","Molokie RE","Wilkie DJ"]

METHODS:OBJECTIVES:Sickle cell disease (SCD) is a serious illness with disabling acute and chronic pain that needs better therapies, but insufficient patient participation in research is a major impediment to advancing SCD pain management. The purpose of this article is to discuss the challenges of conducting an SCD study and approaches to successfully overcoming those challenges. DESIGN:In a repeated-measures, longitudinal study designed to characterize SCD pain phenotypes, we recruited 311 adults of African ancestry. Adults with SCD completed 4 study visits 6 months apart, and age- and gender-matched healthy controls completed 1 visit. RESULTS:We recruited and completed measures on 186 patients with SCD and 125 healthy controls. We retained 151 patients with SCD with data at 4 time points over 18 months and 125 healthy controls (1 time point) but encountered many challenges in recruitment and study visit completion. Enrollment delays often arose from patients' difficulty in taking time from their complicated lives and frequent pain episodes. Once scheduled, participants with SCD cancelled 49% of visits often because of pain; controls canceled 30% of their scheduled visits. To facilitate recruitment and retention, we implemented a number of strategies that were invaluable in our success. CONCLUSION:Patients' struggles with illness, chronic pain, and their life situations resulted in many challenges to recruitment and completion of study visits. Important to overcoming challenges was gaining the trust of patients with SCD and a participant-centered approach. Early identification of potential problems allowed strategies to be instituted proactively, leading to success.

作者列表:["Mukherjee MB","Colah RB","Mehta PR","Shinde N","Jain D","Desai S","Dave K","Italia Y","Raicha B","Serrao E"]

METHODS:OBJECTIVES:Sickle cell anemia is the commonest genetic disorder in India, and the frequency of the sickle cell gene is very high in the remote tribal areas where facilities are generally limited. Therefore, a rapid and affordable point-of-care test for sickle cell disease is needed. METHODS:The diagnostic accuracy of HemoTypeSC was evaluated against automated high-performance liquid chromatography (HPLC) as the gold standard for its efficacy in a newborn screening program. RESULTS:A total of 1,559 individuals (980 newborns and 579 adults) from four participating centers were analyzed by both methods. HemoTypeSC correctly identified 209 of 211 total hemoglobin (Hb) SS cases, for a 99.1%/99.9% total HbSS sensitivity/specificity. Overall, HemoTypeSC exhibited sensitivity and specificity of 98.1% and 99.1% for all possible phenotypes (HbAA, HbAS, and HbSS) detected. HPLC is relatively expensive and not available in most laboratories in remote tribal areas. CONCLUSIONS:We conclude that the rapid, point-of-care testing device HemoTypeSC test is suitable for population and newborn screening for the HbS phenotype.

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