Thalassemia

A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.

Also Known As:

Networked: 6112 relevant articles (292 outcomes, 818 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Sickle Cell Anemia (Hemoglobin S Disease)
2.	Iron Overload
3.	Anemia
4.	Osteoporosis
5.	Hemoglobinopathies

Experts

1.	Fucharoen, Suthat: 95 articles (03/2022 - 06/2002)
2.	Fucharoen, Supan: 87 articles (10/2022 - 01/2002)
3.	Fucharoen, Goonnapa: 77 articles (10/2022 - 01/2002)
4.	Svasti, Saovaros: 55 articles (01/2022 - 09/2002)
5.	Taher, Ali T: 53 articles (06/2022 - 01/2006)
6.	Sanchaisuriya, Kanokwan: 49 articles (10/2022 - 01/2002)
7.	Cappellini, Maria Domenica: 47 articles (06/2022 - 04/2005)
8.	Viprakasit, Vip: 45 articles (01/2022 - 08/2002)
9.	Rivella, Stefano: 45 articles (01/2021 - 01/2005)
10.	Li, Dong-Zhi: 44 articles (07/2022 - 01/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Thalassemia:

1.	IronIBA 01/01/2008 - "It would appear that the major overall determining factor in the rapid clearance of excess iron in thalassemia patients and the maintenance of normal iron stores is the selection and implementation of effective chelation dose protocols. " 06/01/1998 - "This preliminary experience shows that L1 is effective in several patients with thalassemia with poor compliance to DFO and to improve iron burden and iron excretion with generally minor side effects. " 01/01/1980 - "Supertransfusion with neocytes is effective in decreasing the rate of iron accumulation in thalassemia." 11/08/2023 - "Magnetic resonance imaging (MRI) T2* is the gold standard for detecting iron deposition in cardiac tissue, but the technique has limitations and cannot be fully performed in paediatric thalassemia patients. " 01/01/2021 - "Cardiac T2* MRI is used as a gold standard for cardiac iron quantification in patients with transfusion-dependent thalassemia (TDT). "
2.	GlobinsIBA 04/15/2011 - "The enormous progress in the technique for β-globin gene analysis permitted to characterize 99.93% of mutated alleles and it has made a first trimester prenatal diagnosis program possible in our region in all cases with a great improvement in thalassemia management. " 01/01/2018 - "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. " 11/01/2014 - "Overall survival was not found to be associated with the β-globin gene mutation status, but thalassemia-free survival was significantly improved in patients with homozygous mutations compared with patients with compound heterozygous mutations in univariate (91.2% versus 64.0%, P = .009) and multivariable (hazard ratio, 3.83; P = .014) analyses. " 10/01/2020 - "It took more than 40 years for scientists and physicians to advance from the cloning of globin gene and discovering globin gene mutations to improving our understanding of the pathophysiological mechanisms involved, the detection of genetic modifiers, the development of animal models and gene transfer vectors, comprehensive animal testing, and demonstrations of phenotypic improvement in clinical trials, culminating in the authorization of the first gene therapy product for β-thalassemia in 2019. " 03/06/2014 - "Thus, we validated a safe and effective procedure for β-globin gene transfer in thalassemia patient CD34(+) HPCs, which we will implement in the first US trial in patients with severe inherited globin disorders. "
3.	Hemoglobins (Hemoglobin)IBA 03/10/2023 - "Capillary hemoglobin electrophoresis in combination with routine blood test were used for primary screening for carriers of thalassemia-associated mutations, and those with positive results were subjected to fluorescence quantitative PCR assay. " 10/01/2020 - "The detection of thalassemia gene was used as the gold standard, while blood routine examination, hemoglobin electrophoresis, and red cell osmotic fragility test were simultaneously performed. " 01/01/2018 - "Quality control material and 58 samples, including one heterozygous α-thalassemia sample, six heterozygote β-thalassemia samples and 32 samples with a known hemoglobin variant, were used to assess imprecision of HbF and HbA2 measurements, correlation with the gold standard and sensitivity for detecting β-thalassemia and Hb variants on D-100 (Bio-Rad Laboratories), HA 8180T (Menarini), HLC-723G8 (Tosoh Bioscience) and Capillarys 2 Flex Piercing (Sebia). " 01/01/2015 - "Another set of the specimens was sent for testing using hemoglobin (Hb) typing for thalassemia and abnormal Hb carriers and using multiplex polymerase chain reaction for alpha-thalassemia-1 carriers diagnosis as a gold standard. " 11/01/2023 - "The study aimed to identify essential phenotype-modulating factors among the pre-existence of several important ones and clarify their measurable impact on the clinical severity of hemoglobin (Hb) E/β-thalassemia in a community-recruited population analysis. "
4.	Fetal Hemoglobin (Hemoglobin F)IBA 09/26/2022 - "On the other hand, robust evidence demonstrates that the increased production of fetal hemoglobin (HbF) can be beneficial for patients with β-thalassemia. " 01/01/2022 - "It is widely accepted that a high production of fetal hemoglobin (HbF) is beneficial for patients with β-thalassemia. " 08/01/2001 - "rHuEpo promotes the differentiation and proliferation of erythroid cells, induces the production of fetal hemoglobin (HbF), and could be useful in the treatment of some selected transfusion-dependent thalassemia patients. " 11/26/2021 - "Induction of fetal hemoglobin (HbF) ameliorates the clinical severity of β-thalassemias. " 05/01/2019 - "Elevation of hemoglobin F (HbF) ameliorates symptoms of β-thalassemia, as a common autosomal recessive disorder. "
5.	DeferiproneIBA 01/01/2016 - "Sampling Optimization in Pharmacokinetic Bridging Studies: Example of the Use of Deferiprone in Children With β-Thalassemia." 04/01/2013 - "Seventy-three pediatric patients with severe β thalassemias, age range 3.2-19 years, were recruited to a 1-year multicenter prospective, single arm, open label, dose escalating Phase III study of deferiprone to determine its clinical efficacy and safety. " 12/01/2012 - "The method was successfully applied to a pharmacokinetic study of deferiprone in six thalassemia patients." 01/01/2022 - "The efficacy and safety profiles of deferiprone were acceptable and consistent with those seen in patients with transfusion-dependent thalassemia. " 12/01/2009 - "In clinical dose of deferiprone, CD results showed that, the alpha-helical content of thalassemia Hb significantly increased. "
6.	DeferasiroxFDA Link 09/01/2021 - "Safety and efficacy of deferasirox in patients with transfusion-dependent thalassemia: A 4-year single-center experience." 08/01/2014 - "Efficacy of deferasirox in children with β-thalassemia: single-center 3 year experience." 01/01/2012 - "HRQOL improved following treatment with deferasirox, particularly among β-thalassemia patients. " 10/01/2011 - "Improvement in liver pathology of patients with β-thalassemia treated with deferasirox for at least 3 years." 03/01/2011 - "Improved efficacy and tolerability of oral deferasirox by twice-daily dosing for patients with transfusion-dependent β-thalassemia."
7.	Deferoxamine (Desferal)FDA LinkGeneric 01/01/2022 - "To evaluate pulmonary functions in children with transfusion-dependent thalassemia, and its reversal (lung dysfunction) using intensive intravenous chelation with desferrioxamine (DFO) (4 weeks). " 01/01/2022 - "To evaluate pulmonary functions in children with transfusion-dependent thalassemia, and its reversal (lung dysfunction) using intensive intravenous chelation with desferrioxamine (DFO) (4 weeks). " 01/01/2020 - "Use of deferoxamine (DFO) in transfusion-dependent β-thalassemia during pregnancy: A retrospective study." 07/01/2019 - "To compare contrast sensitivity (CS) in multi-transfused β-thalassemia patients who received deferoxamine with those who received Osveral. " 01/01/2015 - "desferrioxamine (DFO) twice weekly were given to transfusion-dependent β-thalassemia children. "
8.	Chelating AgentsIBA 10/01/2014 - "Relationship among chelator adherence, change in chelators, and quality of life in thalassemia." 05/01/1992 - "[New therapeutic trends in thalassemia: oral chelating agents]." 01/01/2023 - "A Multicenter ICET-A Study on Age at Menarche and Menstrual Cycles in Patients with Transfusion-Dependent Thalassemia (TDT) who Started Early Chelation Therapy with Different Chelating Agents." 01/01/2023 - "To evaluate the effect of early chelation therapy (≤ 3 years) with a variety of chelating agents on age at menarche and menstrual characteristics in patients with transfusion-dependent thalassemia (TDT). " 10/01/2014 - "We examine stability of health-related quality of life (HRQOL) in thalassemia and adherence to chelation therapy over time, especially after changes in chelator choice. "
9.	Hydroxyurea (Hydrea)FDA LinkGeneric 04/01/2023 - "Efficacy of Hydroxyurea in Transfusion-Dependent Major β-Thalassemia Patients: A Meta-Analysis." 06/01/2015 - "Low and fixed dose of hydroxyurea is effective and safe in patients with HbSβ(+) thalassemia with IVS1-5(G→C) mutation." 12/01/2021 - "Long-term safety and efficacy of hydroxyurea in patients with non-transfusion-dependent β-thalassemia: a comprehensive single-center experience." 07/01/2011 - "Efficacy of hydroxyurea in providing transfusion independence in β-thalassemia." 04/01/2023 - "The keywords used to search for relevant studies included "hydroxyurea", "thalassemia", "transfusion-dependent", and "efficacy". Outcomes assessed in the present meta-analysis included transfusion in one year and intervals between transfusions (in days). "
10.	Thalidomide (Thalomid)FDA Link 01/01/2021 - "According to the results of ORR and CRR, transfusion-dependent thalassemia (TDT) patients showed remarkable efficacy of thalidomide, 83 and 52% respectively. " 01/01/2020 - "While these preliminary results support the potential long-term efficacy of thalidomide as a therapeutic agent for β-thalassemia, several issues need to be addressed before its application in the clinic." 01/01/2021 - "Background: Thalidomide has been reported as a promising treatment for reducing transfusion volume in adults with β-thalassemia. " 04/01/2020 - "Thalidomide is a safe and effective strategy at reducing or abrogating transfusion requirement in patients with EB thalassemia. " 11/18/2021 - "Safety and efficacy of thalidomide in patients with transfusion-dependent β-thalassemia: a randomized clinical trial."

Therapies and Procedures

1.	Therapeutics 06/01/2021 - "A high index of suspicion of HS in a multi-transfused thalassemia patient allows prompt institution of therapy resulting in improved survival outcome." 10/01/2020 - "Despite the significant advances in thalassemia pathobiology and efficacy of chelation regimens, complications of transfusion therapy have attenuated the reproductive health of thalassemia patients. " 06/01/1987 - "While the prevention of thalassemias through prenatal diagnosis has improved significantly, advances for molecular therapy have been rather limited until now." 12/27/2022 - "The combination therapy demonstrated promising results and could be considered for a diverse patient population with β-thalassemia. " 08/01/2010 - "Randomized controlled clinical trials are needed to test the efficacy of nutritional therapies toward improving the overall health in thalassemia, as well as decreasing long-term comorbidities such as reduced bone mass."
2.	Blood Transfusion (Blood Transfusions) 10/11/2018 - "In conclusion, this study indicates that HU is a good treatment option for β-thalassemia patients because in addition to reducing blood transfusion burden it also ameliorates disease complications by shifting body metabolism towards normal." 01/01/2012 - "In our study, HU at a dose of 8-15 mg/kg/day was effective in decreasing or effecting cessation of the need for regular blood transfusion, as well as in increasing Hb levels in β-thalassemia patients, without any major side effects. " 12/01/1998 - "Regular blood transfusions for patients with thalassemia have improved their overall survival although these transfusions carry a definite risk of the transmission of certain viruses. " 01/01/2023 - "Regular blood transfusion is the mainstay of treatment in transfusion-dependent β-thalassemia (TDT); however, transfusions culminate in an array of serious complications. " 01/01/2020 - "Blood transfusion is the first-line treatment for patients with thalassemia and many sickle cell patients. "
3.	Chelation Therapy (Therapy, Chelation) 09/01/2022 - "Background With optimum transfusion and chelation therapy, the survival of β-thalassemia patients and the incidence of various complications, including renal complications, have improved. " 01/01/2008 - "Effects of chelation therapy on cardiac function improvement in thalassemia patients: literature review and the Taiwanese experience." 08/01/2018 - "The aim of the study was to assess the relationship of cardiac and hepatic T2* values with chelation therapy in patients with transfusion-dependent thalassemia (TDT). " 06/01/2018 - "This metallomic study revealed that there is major difference in metallomic profiling of β-thalassemia patients specifically in Co, Mn, Ni, V and Ba, whereas the fold changes in Co, Mn, V and Ba were found to be greater than that in Fe, providing evidence that, in addition to Fe, other metals are also altered significantly and therefore chelation therapy for other metals may also needed in β-thalassemia patients." 03/01/2014 - "Eighty-nine β-thalassemia patients receiving chelation therapy (mean age of 20.8 ± 6.4 years) were recruited in this study. "
4.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 12/01/2007 - "Bone marrow transplantation (BMT) is the only complete cure for b-thalassemia. " 01/01/2007 - "A very limited number of patients with thalassemia may be cured by bone marrow transplantation from HLA-identical donors. " 09/16/1993 - "The high probability of cure with little early or late morbidity and mortality suggests that patients with class 1 thalassemia who have HLA-identical donors available should be treated by bone marrow transplantation. " 01/01/2006 - "Although related bone marrow transplantation (BMT) is effective for thalassemia, less than 30% of patients have sibling donors. " 10/10/2013 - "Bone marrow transplantation for thalassemia from alternative related donors: improved outcomes with a new approach."
5.	Hematopoietic Stem Cell Transplantation 01/01/2021 - "Allogeneic hematopoietic stem cell transplantation (allo-HSCT) potentially renders thalassemia patients disease-free with presumably cessation of associated complications. " 01/01/2018 - "The definitive cure for thalassemia is allogeneic hematopoietic stem cell transplantation, which is limited due to lack of HLA-matched donors and the risk of post-transplant complications. " 06/01/2011 - "Hematopoietic stem cell transplantation (HSCT) represents the only cure for patients with thalassemia. " 01/01/2019 - "In a monocentric retrospective study and cost-efficacy analysis, this study compared the two-year outcomes and costs of patients with β-thalassemia treated by gene therapy and hematopoietic stem-cell transplantation (HSCT). " 12/01/2016 - "Return to normal life after hematopoietic stem cell transplantation for thalassemia: a study of patients transplanted from matched sibling donors."