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Thalassemia

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1. Computer and mobile technology interventions to promote medication adherence and disease management in people with thalassemia. (PubMed)

Computer and mobile technology interventions to promote medication adherence and disease management in people with thalassemia. Thalassemia syndromes are inherited hemoglobin disorders that result when the synthesis of normal hemoglobin is lacking or significantly reduced. For people with thalassemia, long-term red blood cell transfusion remains the mainstay of therapy, which may lead to iron overload causing severe complications and damage in different body organs. Long-term iron chelation (...) therapy is essential for people with thalassemia to minimize the ongoing iron-loading process. In addition, suboptimal adherence can increase adverse events associated with iron overload and result in increased morbidity, mortality, healthcare utilization and cost of care.To identify and assess the effects of computer and mobile technology interventions designed to facilitate medication adherence and disease management in individuals with thalassemia, including:- evaluating the effects of using

2019 Cochrane

6. Computer and mobile technology interventions to promote medication adherence and disease management in people with thalassemia. (PubMed)

Computer and mobile technology interventions to promote medication adherence and disease management in people with thalassemia. This is a protocol for a Cochrane Review (Intervention). The objectives are as follows: To identify and assess the effects of computer and mobile technology interventions designed to facilitate medication adherence and disease management in individuals with thalassemia, including: evaluating the effects of using computer and mobile technology interventions

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2017 Cochrane

7. A prospective analysis for prevalence of complications in Thai non-transfusion-dependent Hb E/β-thalassemia and α-thalassemia (Hb H disease). (PubMed)

A prospective analysis for prevalence of complications in Thai non-transfusion-dependent Hb E/β-thalassemia and α-thalassemia (Hb H disease). Recently, complications in patients with nontransfusion-dependent thalassemia (NTDT), in particular those with β-thalassemia intermedia (β-TI), were found to be significantly different from those in patients with transfusion dependent thalassemia (TDT), mainly β-thalassemia major (β-TM). However, this information is rather limited in other forms of NTDT (...) . In this prospective study, adult Thai NTDT patients were interviewed and clinically evaluated for thalassemia related complications. Fifty-seven NTDT patients (age 18-74 years), 59.6% Hb E/β-thalassemia and 40.4% Hb H disease, were recruited; 26.4% were splenectomized. The most common complications were gallstones (68.4%), osteoporosis (26.3%), and pulmonary hypertension (15.8%). Splenectomy was associated with higher rate of gallstones and serious infection (P = .001 and .052, respectively), consistent

2018 American journal of hematology

8. Double heterozygocity for hemoglobin C and beta thalassemia dominant: A rare case of thalassemia intermedia (PubMed)

Double heterozygocity for hemoglobin C and beta thalassemia dominant: A rare case of thalassemia intermedia 29383226 2018 11 13 2038-8322 9 4 2017 Dec 22 Hematology reports Hematol Rep Double heterozygocity for hemoglobin C and beta thalassemia dominant: A rare case of thalassemia intermedia. 7447 10.4081/hr.2017.7447 Agapidou Alexandra A Hemoglobinopathy Service, Homerton University Hospital NHS Foundation Trust, London, UK. King Paul P Hemoglobinopathy Service, Homerton University Hospital (...) NHS Foundation Trust, London, UK. Ng Cecilia C Hemoglobinopathy Service, Homerton University Hospital NHS Foundation Trust, London, UK. Tsitsikas Dimitris A DA Hemoglobinopathy Service, Homerton University Hospital NHS Foundation Trust, London, UK. eng Journal Article 2018 01 03 Italy Hematol Rep 101556723 2038-8322 DNA analysis HbC Thalassemia electrophoresis 2017 10 13 2017 11 20 2017 11 21 2018 2 1 6 0 2018 2 1 6 0 2018 2 1 6 1 epublish 29383226 10.4081/hr.2017.7447 PMC5768097 Genet Med. 2010

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2018 Hematology reports

9. Genotype–phenotype correlation among beta-thalassemia and beta-thalassemia/HbE disease in Thai children: predictable clinical spectrum using genotypic analysis (PubMed)

Genotype–phenotype correlation among beta-thalassemia and beta-thalassemia/HbE disease in Thai children: predictable clinical spectrum using genotypic analysis Beta-thalassemia is a group of inherited hemolytic anemias and one of the most common genetic disorders in Thailand. The clinical spectrum of beta-thalassemia disease ranges from mild to severe clinical symptoms including mild beta-thalassemia intermedia (TI) and severe beta-thalassemia major (TM).This study aimed to determine (...) the correlation between beta-globin gene (HBB) mutations and their phenotypic manifestations by evaluating patients' clinical characteristics, transfusion requirements, growth and hematologic parameters, and hemoglobin typing among pediatric patients treated at Phramongkutklao Hospital.Seventy beta-thalassemia patients, including 63 with beta-thalassemia/hemoglobin E (HbE) and 7 with either homozygous or compound heterozygous beta-thalassemia, were enrolled in this study. Their clinical presentation, growth

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2018 Journal of blood medicine

10. Newborn blood spot screening for galactosemia, tyrosiemia type I, homocystinuria, sickle cell anemia, sickle cell/beta-thalassemia, sickle cell/hemoglobin C disease and severe combined immunodeficiency

Newborn blood spot screening for galactosemia, tyrosiemia type I, homocystinuria, sickle cell anemia, sickle cell/beta-thalassemia, sickle cell/hemoglobin C disease and severe combined immunodeficiency Newborn blood spot screening for galactosemia, tyrosiemia type I, homocystinuria, sickle cell anemia, sickle cell/beta-thalassemia, sickle cell/hemoglobin C disease and severe combined immunodeficiency Newborn blood spot screening for galactosemia, tyrosiemia type I, homocystinuria, sickle cell (...) anemia, sickle cell/beta-thalassemia, sickle cell/hemoglobin C disease and severe combined immunodeficiency Institute of Health Economics Record Status This is a bibliographic record of a published health technology assessment from a member of INAHTA. No evaluation of the quality of this assessment has been made for the HTA database. Citation Institute of Health Economics. Newborn blood spot screening for galactosemia, tyrosiemia type I, homocystinuria, sickle cell anemia, sickle cell/beta

2016 Health Technology Assessment (HTA) Database.

11. Long-term Safety and Efficacy Follow-up of Subjects Treated With GSK2696277 for Transfusion Dependent Beta-thalassemia in San Raffaele Telethon Institute of Gene Therapy-Beta Thalassemia (TIGET-BTHAL) Study

Long-term Safety and Efficacy Follow-up of Subjects Treated With GSK2696277 for Transfusion Dependent Beta-thalassemia in San Raffaele Telethon Institute of Gene Therapy-Beta Thalassemia (TIGET-BTHAL) Study Long-term Safety and Efficacy Follow-up of Subjects Treated With GSK2696277 for Transfusion Dependent Beta-thalassemia in San Raffaele Telethon Institute of Gene Therapy-Beta Thalassemia (TIGET-BTHAL) Study - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers (...) : refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Long-term Safety and Efficacy Follow-up of Subjects Treated With GSK2696277 for Transfusion Dependent Beta-thalassemia in San Raffaele Telethon Institute of Gene Therapy-Beta Thalassemia (TIGET-BTHAL) Study The safety and scientific validity

2017 Clinical Trials

12. Identification of patients with hemoglobin SS/Sβ0 thalassemia disease and pain crises within electronic health records (PubMed)

Identification of patients with hemoglobin SS/Sβ0 thalassemia disease and pain crises within electronic health records Electronic health records (EHRs) are a source of big data that provide opportunities for conducting population-based studies and creating learning health systems, especially for rare conditions such as sickle cell disease (SCD). The objective of our study is to validate algorithms for accurate identification of patients with hemoglobin (Hb) SS/Sβ0 thalassemia and acute care (...) calculated for the algorithms. Predictive values for the algorithm to identify SCD genotype were calculated. For all assessments, the local SCD registry and patients' charts were considered gold standards. These included 360 children with SCD, of whom 51% were females. Our algorithm to identify patients with HbSS/Sβ0 thalassemia demonstrated sensitivity of 89.9% (confidence interval [CI], 85.1%-93.7%) and specificity of 97.1% (CI, 92.7%-99.2%). This algorithm had a positive and negative predictive value

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2018 Blood advances

13. Denosumab in transfusion-dependent thalassemia osteoporosis: a randomized, placebo-controlled, double-blind phase 2b clinical trial (PubMed)

Denosumab in transfusion-dependent thalassemia osteoporosis: a randomized, placebo-controlled, double-blind phase 2b clinical trial Denosumab (DNM) is a fully human monoclonal antibody against the receptor activator of nuclear factor kappa-B ligand (RANKL) that has been licensed for the treatment of different types of osteoporosis. However, the prospective data for the evaluation of DNM efficacy on transfusion-dependent thalassemia (TDT)-induced osteoporosis are rather limited. Thus, we

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2018 Blood advances Controlled trial quality: predicted high

14. Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia. (PubMed)

Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia. Donor availability and transplantation-related risks limit the broad use of allogeneic hematopoietic-cell transplantation in patients with transfusion-dependent β-thalassemia. After previously establishing that lentiviral transfer of a marked β-globin (βA-T87Q) gene could substitute for long-term red-cell transfusions in a patient with β-thalassemia, we wanted to evaluate the safety and efficacy of such gene therapy in patients (...) with transfusion-dependent β-thalassemia.In two phase 1-2 studies, we obtained mobilized autologous CD34+ cells from 22 patients (12 to 35 years of age) with transfusion-dependent β-thalassemia and transduced the cells ex vivo with LentiGlobin BB305 vector, which encodes adult hemoglobin (HbA) with a T87Q amino acid substitution (HbAT87Q). The cells were then reinfused after the patients had undergone myeloablative busulfan conditioning. We subsequently monitored adverse events, vector integration, and levels

2018 NEJM

15. Exploring Iranian β-Thalassemia major patients’ perception of barriers and facilitators of adherence to treatment: A qualitative study (PubMed)

Exploring Iranian β-Thalassemia major patients’ perception of barriers and facilitators of adherence to treatment: A qualitative study Despite the clinical importance of adherence to treatment in β-Thalassemia Major (β-TM) patients, poor adherence remains a prevalent and persistent problem in these patients.The aim of this study was to explore Iranian β-TM patients' perception regarding the barriers and facilitators of adherence to their treatments.In this qualitative study, data were

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2017 Electronic physician

16. Iron overload assessment in β Thalassemia Major – is T2* Magnetic Resonance Imaging the answer? (PubMed)

Iron overload assessment in β Thalassemia Major – is T2* Magnetic Resonance Imaging the answer? 29238504 2018 11 13 2008-5842 9 10 2017 Oct Electronic physician Electron Physician Iron overload assessment in β Thalassemia Major - is T2* Magnetic Resonance Imaging the answer? 5609-5610 10.19082/5609 Ali Natasha N Assistant Professor of Haematology, Department of Pathology & Laboratory Medicine/Oncology, Aga Khan University, Karachi, Pakistan. eng Journal Article 2017 10 25 Iran Electron (...) Physician 101645099 2008-5842 Iron overload Magnetic Resonance Imaging β Thalassemia Conflict of Interest: There is no conflict of interest to be declared. 2017 05 16 2017 09 21 2017 12 15 6 0 2017 12 15 6 0 2017 12 15 6 1 epublish 29238504 10.19082/5609 epj-09-5609 PMC5718868 J Pediatr Hematol Oncol. 2016 Jul;38(5):378-83 27164519 Haematologica. 2014 May;99(5):811-20 24790059 Hematol Oncol Stem Cell Ther. 2014 Sep;7(3):103-8 24998835 Hematology Am Soc Hematol Educ Program. 2010;2010:456-62 21239835

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2017 Electronic physician

17. Allogeneic bone marrow transplant in the absence of cytoreductive conditioning rescues mice with β-thalassemia major (PubMed)

Allogeneic bone marrow transplant in the absence of cytoreductive conditioning rescues mice with β-thalassemia major β-thalassemia is a group of inherited blood disorders that result in defects in β-globin chain production. Cooley anemia (CA), or β-thalassemia major, is the most severe form of the disease and occurs when an individual has mutations in both copies of the adult β-globin gene. Patients with CA fail to make adult hemoglobin, exhibit ineffective erythropoiesis, experience severe

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2017 Blood advances

18. Evaluation of hepatitis C, hepatitis B, and HIV virus Serology pandemic in thalassemia patients of Shahid Mohammadi Hospital of Bandar Abbas, Iran (PubMed)

Evaluation of hepatitis C, hepatitis B, and HIV virus Serology pandemic in thalassemia patients of Shahid Mohammadi Hospital of Bandar Abbas, Iran Thalassemia patients are prone to the hepatitis C, B, and HIV virus, due to their constant need to receive blood transfusions. Therefore, this research was aimed to determine the epidemic of the aforementioned diseases in thalassemia patients of Shahid Mohammadi Hospital of Bandar Abbas, Iran.This cross-sectional study was carried out on thalassemia (...) patients visiting the Thalassemia Hospital of Bandar Abbas from March 21, 2014, to March 22, 2015. Checklists were used to collect the data. HBS-Ag, HCV-Ab, and HIV-Ab tests have been registered for hepatitis B, hepatitis C, and HIV virus, respectively. The data were analyzed using SPSS 19 by Mann-Whitney U test, chi-square test, and independent samples t-test.Among 587 records administered into the research, 280 individuals (47.7 %) were men and (52.3 %) were female. The average age of participants

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2017 Electronic physician

19. Thalassemia review: features, dental considerations and management (PubMed)

Thalassemia review: features, dental considerations and management Thalassemia is a genetic disorder that involves abnormal haemoglobin formation. The two main categories of thalassemia are alpha and beta thalassemia that are then divided into further subcategories. While some mild forms of thalassemia might even go unnoticed and only cause mild anaemia and iron deficiency problems in patients, other more severe forms of thalassemia can even result in death. Individuals with thalassemia can get (...) treatment according to the level of severity of their condition. The main oral manifestations of thalassemia are Class II malocclusion, maxillary protrusion, high caries index, severe gingivitis. Any dental surgical procedure for such patients should be done under antibiotic cover and immediately after transfusion. Caution should be exercised in thalassemia patients due to complications related to compromised immunity and cardiovascular issues. Multidisciplinary approach involving dental surgeon

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2017 Electronic physician

20. Associations of α-thalassemia and BCL11A with stroke in Nigerian, United States, and United Kingdom sickle cell anemia cohorts (PubMed)

Associations of α-thalassemia and BCL11A with stroke in Nigerian, United States, and United Kingdom sickle cell anemia cohorts Alpha-thalassemia and the BCL11A rs1427407 T allele are commonly observed in sickle cell anemia (SCA) patients and are associated with reduced hemolysis and higher hemoglobin F levels, respectively. We investigated whether a high-risk genetic profile, defined as SCA patients who did not inherit either α-thalassemia or the BCL11A rs1427407 T allele, had stronger

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2017 Blood advances

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