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: 3420 relevant articles (151 outcomes, 382 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Sickle Cell Anemia (Hemoglobin S Disease)
2.	Iron Overload
3.	Anemia
4.	beta-Thalassemia (Cooley's Anemia)
5.	Osteoporosis

Experts

1.	Fucharoen, Supan: 58 articles (01/2016 - 01/2002)
2.	Fucharoen, Goonnapa: 52 articles (01/2016 - 01/2002)
3.	Fucharoen, Suthat: 46 articles (08/2015 - 06/2002)
4.	Sanchaisuriya, Kanokwan: 35 articles (01/2016 - 01/2002)
5.	Galanello, Renzo: 31 articles (01/2014 - 09/2002)
6.	Rivella, Stefano: 30 articles (06/2015 - 03/2002)
7.	Viprakasit, Vip: 27 articles (08/2015 - 08/2002)
8.	Lucarelli, Guido: 27 articles (01/2014 - 05/2002)
9.	Taher, Ali T: 22 articles (08/2015 - 01/2006)
10.	Svasti, Saovaros: 20 articles (12/2015 - 09/2002)

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." 01/01/2013 - "The aim of this study was to evaluate the efficacy of sTfR determination in the diagnosis of iron deficiency in thalassemia carriers. " 10/01/2010 - "The present study is an endeavor to explore the efficacy of Triphaladi Avaleha as an iron chelator in the management of thalassemia, in comparison to a control group managed by routine modern therapy."
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. " 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. " 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. " 05/01/2014 - "This study confirms that increased γG-globin expression associated with Xmn1 polymorphism ameliorates the clinical severity in β-thalassemia as well as SCA in the study population." 02/01/2011 - "This assay may help to characterize β-thalassemia phenotypes and to follow the evolution of the globin chain imbalance(α/β+γ ratio) in response to treatment."
3.	Hemoglobins (Hemoglobin)IBA 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. " 09/01/2013 - "Our studies demonstrate the decreased NO bioavailability in thalassemia, which could result from endothelial dysfunction, the increased potential NO consumption in plasma by cell-free hemoglobin and oxidative stress." 05/01/2013 - "We present a study aimed to define the analytical goals for the determination of hemoglobin A₂, a minor hemoglobin present in human blood normally accounting from 2.5 % to 3.3 % of total hemoglobin, and typically increased up to 6 % – 7 % in subjects carriers of β-thalassemia. " 02/01/2013 - "The aim of our study was to determine the prevalence of the β-thalassemia trait and abnormal hemoglobin in couples who applied for premarital screening in the third largest Turkish province of Izmir in the Aegean region. " 06/16/2009 - "In this study, we reprogrammed the skin fibroblasts of a patient with homozygous beta(0) thalassemia into iPS cells, and showed that the iPS cells could be differentiated into hematopoietic cells that synthesized hemoglobin. "
4.	deferasiroxFDA Link 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." 12/01/2015 - "The aim of this study was to evaluate the long-term efficacy and tolerability of deferasirox in Taiwanese patients with transfusion-dependent β-thalassemia who have been treated with deferasirox for 7 years. "
5.	deferiprone (CP20)IBA 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." 04/01/1990 - "Studies of the oral chelator 1,2-dimethyl-3-hydroxypyrid-4-one in thalassemia patients." 12/01/2013 - "Routine radiographs of left wrist and hand done for bone age estimation in 40 children with thalassemia were evaluated and revealed unique radiographic changes in 13 children (10 males: 3 females) with previous or current deferiprone related arthropathy. " 12/01/2013 - "Distal ulnar changes in children with thalassemia and deferiprone related arthropathy."
6.	Deferoxamine (Desferal)FDA LinkGeneric 05/01/2006 - "Deferoxamine (DFO) therapy has been associated with improved survival of thalassemia patients. " 01/01/2015 - "desferrioxamine (DFO) twice weekly were given to transfusion-dependent β-thalassemia children. " 01/01/2014 - "A 53-year-old man with history of β-thalassemia presented with decreased vision in both eyes 1 month after initiating deferoxamine therapy. " 08/01/2012 - "To describe and classify patterns of abnormal fundus autofluorescence (FAF) of patients with β-thalassemia receiving long-term treatment with deferoxamine (DFO). " 07/01/2012 - "This was a cross-sectional study of 382 TM patients treated with regular transfusions and desferrioxamine at the Thalassemia Center in Dubai, UAE. "
7.	Fetal Hemoglobin (Hemoglobin F)IBA 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. " 12/01/2014 - "It has been reported that in patients with β-thalassemia in the presence of Xmn 1(G)γ polymorphic site the level of fetal hemoglobin (HbF) is increased thereby reducing the severity of disease. " 01/01/1981 - "In contrast to adults, the hemoglobin F level seems to be helpful for the diagnosis of thalassemia trait. " 06/01/2013 - "Genetic studies of fetal hemoglobin in the Arab-Indian haplotype sickle cell-β(0) thalassemia." 01/01/2013 - "Two key modifiers, an innate ability to produce fetal hemoglobin and coinheritance of α-thalassemia, both derived from family and population studies, affect the pathophysiology of both disorders at the primary level. "
8.	Hydroxyurea (Hydrea)FDA LinkGeneric 06/01/2015 - "Low and fixed dose of hydroxyurea is effective and safe in patients with HbSβ(+) thalassemia with IVS1-5(G→C) mutation." 07/01/2011 - "Efficacy of hydroxyurea in providing transfusion independence in β-thalassemia." 07/01/2014 - "Recent studies regarding the effect of hydroxyurea (HU) in thalassemia have revealed favorable effects on the reduction of ineffective erythropoiesis. " 06/30/1998 - "In order to improve both quantitative and qualitative thalassemia erythropoiesis, several trials were undertaken combining rHuEPO with hydroxyurea (HU), which is known to increase % Hb F, MCV and MCH without a major effect on Hb levels. " 12/01/2015 - "It was also significantly higher in non-transfusion dependent patients with β thalassemia (NTDT) compared to transfusion dependent ones (P=0.019), and in patients on hydroxyurea therapy (P<0.001). "
9.	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]." 10/07/1964 - "CHELATING AGENTS IN THE DIAGNOSIS AND TREATMENT OF IRON OVERLOAD IN THALASSEMIA." 01/01/2005 - "These trials will clarify the role of different chelators in the management of myocardial iron overload and may be valuable in reducing the toll of death in thalassemia from heart failure." 09/01/2007 - "Secondary forms of the disease require chelation therapy, and the recent introduction of effective oral chelating agents is an important step forward in treating patients with disorders in which iron overload often proves to be fatal, such as thalassemia, myelodysplastic anemias, and dyserythropoietic anemias. "
10.	DNA (Deoxyribonucleic Acid)IBA 09/29/2011 - "In the discussion on diagnosing the condition, we cover the development of improved diagnostic tools, including the use of very small fetal DNA samples to detect single point mutations with great reliability for prenatal diagnosis of homozygous thalassemia. " 07/27/1978 - "Analysis of amniotic-fluid cell DNA from a fetus at risk for deltabeta-thalassemia demonstrated the feasibility of these improved methods for antenatal diagnosis. " 01/01/2013 - "In present study, β-thalassemia mutations were characterized in 300 thalassemia cases from 2007 to 2010 using ARMS-PCR and DNA sequencing. " 11/01/2005 - "Family studies and comprehensive hematological analyses provide useful insights for accurately diagnosing thalassemia at the DNA level. " 12/01/2015 - "To provide basic epidemiological data for thalassemia screening, genetic counseling, and prenatal diagnosis (PND) in the Chengdu region, a total of 3262 healthy subjects were assessed by complete blood count (CBC), reverse dot-blot gene chip, gap-polymerase chain reaction (gap-PCR), and PCR-DNA sequencing. "

Therapies and Procedures

1.	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."
2.	Transplants (Transplant) 02/01/2012 - "Many patients with thalassemia have been cured with BMT since the first successful transplant in 1981. " 01/01/2005 - "Although this new approach to transplant adult patients with a reduced-dose intensity-conditioning regimen has improved thalassemia-free survival, transplant-related mortality in these high-risk patients remains elevated." 08/01/2010 - "HSCT for thalassemia has substantially improved over the last two decades, due in large part to improvements in preventive strategies, the effective control of transplant-related complications, and the development of new preparative regimens. " 01/01/2005 - "Group B patients treated with the new protocol had some improvement in thalassemia-free survival (67%) and lower transplant-related mortality (27%) than that of previous protocols. " 05/01/2012 - "HSCT treatment of thalassemia has substantially improved over the last two decades, with advancements in preventive strategies, control of transplant-related complications, and preparative regimens. "
3.	Chelation Therapy (Therapy, Chelation) 01/01/2008 - "Effects of chelation therapy on cardiac function improvement in thalassemia patients: literature review and the Taiwanese experience." 03/01/2014 - "Eighty-nine β-thalassemia patients receiving chelation therapy (mean age of 20.8 ± 6.4 years) were recruited in this study. " 06/01/2015 - "Application of educational programmes for thalassemic children and their nurses regarding chelation therapy and its importance in preventing thalassemia complications is established. " 06/01/2015 - "The researcher used a predesigned interviewing questionnaire to collect data regarding children's knowledge about thalassemia and its management, especially regarding chelation therapy. " 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. "
4.	Transplantation (Transplant Recipients) 11/01/2000 - "Improved conditioning regimes and enlargement of the donor pool will be needed to improve the outcome of transplantation and to make this treatment available to more children with thalassemia." 03/01/1996 - "Results of transplantation for patients with advanced thalassemia treatment have improved with the introduction of conditioning regimens with less CY. " 12/01/2014 - "Improving outcomes among class 3 thalassemia patients receiving allogeneic hematopoietic stem cell transplantations (HSCT) remains a challenge. " 10/01/2013 - "Successful unrelated cord blood transplantation for homozygous α-thalassemia." 02/01/2013 - "Bone mineral density (BMD) of 20 patients from three thalassemia classes whose mean (SD) age was 7.4 (3.8) years were tested with a Norland XR-46 device at baseline (before transplantation), 6 and 12 months after transplantation. "
5.	Blood Transfusion (Blood Transfusions) 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. " 01/01/2005 - "Current regular blood transfusion programs and chelation treatment have considerably improved survival of patients with thalassemia, which resulted in a larger proportion of adult patients. " 04/01/2015 - "The aim of this study was to estimate the frequency of alloimmunisation and to evaluate the risk factors associated with its development in beta (β)-thalassemia patients receiving regular blood transfusions. " 01/01/2014 - "This study found evidence that chronic blood transfusions may have beneficial effects in PAH in thalassemia patients over 1 year." 12/01/2013 - "Here, we present a combined molecular and serological study on 174 asymptomatic blood donors and 22 patients with thalassemia who receive repeated blood transfusions to estimate the prevalence of Marseillevirus in these two populations. "