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beta-Thalassemia (Cooley's Anemia)

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A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent.

Also Known As:

Cooley's Anemia; Thalassemia Major; Erythroblastic Anemia; Mediterranean Anemia; Thalassemia Minor; Thalassemia Intermedia; Thalassemia Major (beta-Thalassemia Major); Thalassemia Minor (beta-Thalassemia Minor); Anemia, Cooley; Anemia, Cooleys; Anemias, Erythroblastic; Disease, Hemoglobin F; Intermedia, Thalassemia; Intermedias, Thalassemia; Major, Thalassemia (beta-Thalassemia Major); Majors, Thalassemia (beta-Thalassemia Major); Minor, Thalassemia (beta-Thalassemia Minor); Minors, Thalassemia (beta-Thalassemia Minor); Thalassemia Intermedias; Thalassemia Major (beta Thalassemia Major); Thalassemia Majors (beta-Thalassemia Major); Thalassemia Minor (beta Thalassemia Minor); Thalassemia Minors (beta-Thalassemia Minor); beta Thalassemia; Anemia, Cooley's; Anemia, Erythroblastic; Anemia, Mediterranean; Hemoglobin F Disease

Networked: 4155 relevant articles (158 outcomes, 561 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

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

Experts

1.	Galanello, Renzo: 45 articles (05/2015 - 03/2002)
2.	Fucharoen, Suthat: 39 articles (01/2012 - 06/2002)
3.	Karimi, Mehran: 38 articles (11/2015 - 01/2002)
4.	Cappellini, Maria Domenica: 29 articles (01/2015 - 10/2004)
5.	Maggio, Aurelio: 25 articles (10/2015 - 03/2002)
6.	Wood, John C: 25 articles (01/2015 - 03/2004)
7.	Piga, Antonio: 22 articles (05/2015 - 09/2002)
8.	Taher, Ali: 22 articles (03/2014 - 01/2004)
9.	De Sanctis, Vincenzo: 20 articles (11/2015 - 09/2003)
10.	Musallam, Khaled M: 20 articles (02/2015 - 07/2008)

Drugs and Biologics

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

1.	IronIBA 12/01/1994 - "L1 is the most widely studied oral iron-chelating drug and at present the only one shown to be effective at causing negative iron balance in long-term clinical trials for thalassemia major and other transfusion-dependent refractory anaemias. " 04/01/2010 - "The aim of this paper is to find microcytosis in donors, to establish prevalence of iron deficiency anaemia (IDA) and beta-thalassemia trait (BTT) in them and to evaluate which index is most effective in differentiating these two conditions. " 11/01/2013 - "Thalassemic osteopathy (TOSP) has emerged as a topic of interest, as the optimized transfusion regimens and iron chelations has markedly improved the survival of the patients suffering from thalassemia major (TM) and increased the life expectancy. " 08/01/2013 - "Transfusion and iron chelation treatment have significantly reduced morbidity and improved survival of patients with thalassemia major. " 04/01/2010 - "The efficacy of tissue Doppler imaging in predicting myocardial iron load in patients with beta-thalassemia major: correlation with T2* cardiovascular magnetic resonance."
2.	Deferoxamine (Desferal)FDA LinkGeneric 07/01/2004 - "High doses of intravenous deferoxamine via central venous line (CVL) has recently been shown to improve survival in patients with noncompliant thalassemia major (TM). " 01/01/1994 - "In vitro deferoxamine partially improved monocyte phagolysosomal fusion of patients with thalassemia major, and did not affect monocyte function in carriers and healthy subjects. " 01/01/2010 - "There are limited studies on renal involvement in beta-thalassemia, mainly involving patients on deferoxamine, reporting both glomerular and tubular dysfunction. " 05/01/2009 - "In conclusion, the results of this study show that the risk factors for predicting mortality in patients with thalassemia major are deferoxamine-treatment, complications, and the interaction effect of sex and age." 01/01/2001 - "In more recent studies with homozygous beta-thalassemia, using continuous Intravenous deferoxamine infusion at 50 mg/kg/d, and initial elimination half-life of 0.28/h and steady-state concentration of 7 micromol/L were observed. "
3.	Hemoglobins (Hemoglobin)IBA 02/01/1997 - "To verify whether a transfusion regimen with a target pretransfusion hemoglobin level between 9 and 10 g per dL can allow a significant reduction in blood consumption, while still effectively suppressing erythropoiesis, the records were reviewed of 32 beta-thalassemia major patients, who were maintained at a pretransfusion hemoglobin of 11.3 +/- 0.5 g per dL between 1981 and 1986. " 01/01/2008 - "Taken together, these findings might be helpful in understanding the oxidative stress-related mechanism(s) involved in the premature destruction of erythrocytes in peripheral blood, implicated in the hemoglobin disorder, HbE/beta-thalassemia." 01/01/2015 - "In this short communication, we describe the clinical presentation of unusual hemoglobin (Hb), variants in three Sri Lankan cases under study for β-thalassemia intermedia (β-TI). " 06/01/2009 - "The aim of this study was to explore the expression of hTERT in bone marrow from children with beta-thalassemia major and the relationship between the expression of hTERT and hemoglobin levels. " 07/01/2007 - "In this study, a Thai girl with severe beta thalassemia/hemoglobin (Hb) E disease was born from the mother with Hb E trait and the genotypically normal father. "
4.	deferiprone (CP20)IBA 03/01/2006 - "Oral deferiprone (L1) appears to be promising in the treatment of beta-thalassemia major (TM) patients. " 03/01/2006 - "Evaluation of the efficacy of oral deferiprone in beta-thalassemia major by multislice multiecho T2*." 01/01/2006 - "A randomized controlled study evaluating the safety and efficacy of deferiprone treatment in thalassemia major patients from Hong Kong." 04/01/2008 - "Our objective was to assess the long-term efficacy of deferiprone in patients with thalassemia major. " 09/01/2003 - "Based on our findings in a 1-year multicenter, prospective study of the safety and efficacy of deferiprone in patients with thalassemia major, we have extended the treatment period to 4 years. "
5.	Fetal Hemoglobin (Hemoglobin F)IBA 04/01/2015 - "Polymorphic variations influencing fetal hemoglobin levels: association study in beta-thalassemia carriers and in normal individuals of Portuguese origin." 08/15/2010 - "The aim of this study was to analyze in 57 beta-thalassemia intermedia patients with very various genotypes the effects on fetal hemoglobin levels of SNPs lying in three genes or chromosome regions which include the XmnI (G)gamma polymorphism at position -158 of the HBG2 promoter (rs7482144), two SNPs located in the BCL11A region (rs4671393 and rs11886868) and three SNPs located in the HBS1L-MYB region (rs28384513, rs9399137 and rs4895441). " 04/01/2006 - "A molecular study was carried out of beta-thalassemia intermedia patients, compound heterozygotes for mutations usually found in beta-thalassemia major, with high levels of HbF in the absence of hereditary persistence of fetal hemoglobin (HPFH) syndrome. " 11/01/1992 - "Family studies revealed a combination of hereditary persistence of fetal hemoglobin (HPFH) and beta zero-thalassemia minor. " 02/01/1985 - "Studies of the ability of Plasmodium falciparum to grow in vitro in the red blood cells of subjects with certain beta-thalassemia syndromes are often difficult to interpret because of the known inhibitory effect of an elevated cellular content of human fetal hemoglobin (HbF). "
6.	deferasirox FDA Link 06/01/2012 - "Deferasirox for up to 3 years leads to continued improvement of myocardial T2* in patients with β-thalassemia major." 05/01/2006 - "A comparative phase 3 trial was conducted to demonstrate the efficacy of deferasirox in regularly transfused patients with beta-thalassemia aged 2 years or older. " 01/01/2012 - "Efficacy of deferasirox in North Indian β-thalassemia major patients: a preliminary report." 03/01/2013 - "This study aimed to estimate the incidence of deferasirox (DFX) side effects in patients with thalassemia major or intermedia. " 04/15/2012 - "The method can be used to support a wide range of clinical studies concerning deferasirox monitoring and it was applied to the analysis of human plasma samples obtained from patients with β-thalassemia major."
7.	Hydroxyurea (Hydrea)FDA LinkGeneric 11/01/2007 - "Efficacy of hydroxyurea (HU) in reduction of pack red cell (PRC) transfusion requirement among children having beta-thalassemia major: Karachi HU trial (KHUT)." 02/01/2001 - "In a two-year clinical study, we evaluated the efficacy of hydroxyurea in a group of 22 adult Sicilian patients with beta(S)/beta-thalassemia with severe phenotypes. " 10/01/2015 - "We aimed to evaluate the effect of hydroxyurea on clinical and haematological improvement in children with thalassemia intermedia. " 01/01/2015 - "Hydroxyurea as a first-line treatment of extramedullary hematopoiesis in patients with beta thalassemia: Four case reports." 03/01/2006 - "Due to genetic heterogeneity of beta-thalassemia (beta-thal) patients, several efforts have been undertaken to determine the efficacy of hydroxyurea treatment. "
8.	DNA (Deoxyribonucleic Acid)IBA 01/01/2009 - "Size fractionation of cell-free DNA may lead to the improved non-invasive detection of fetal point mutations for beta-thalassemia by MALDI-TOF mass spectrometry." 09/01/2004 - "Thirteen beta thalassemia mutations were characterized by reverse dot blot hybridization or amplification refractory mutation system (ARMS); denaturing gradient gel electrophoresis (DGGE) analysis and DNA sequencing helped to characterize the remaining nine mutations. " 05/01/1992 - "Since preventive medical services, such as genetic counseling and prenatal diagnosis, are greatly improved by detailed knowledge of the molecular pathology of beta-thalassemia, we strongly believe that the presented data will facilitate the intended establishment of a prenatal diagnosis center, based on DNA analysis, in Turkey." 01/01/2015 - "In this study, mouthwash, saliva, and buccal cytobrush samples were collected from β-thalassemia major patients who had previously been characterized using DNA extracted from peripheral blood. " 07/01/2011 - "The diagnostic potential of this assay was evaluated in 1022 pretyped genomic DNA samples, including 909 clinical cases of β-thalassemia minor or major, using a double-blind analysis in a multicenter validation study. "
9.	Ferritins (Ferritin)IBA 12/01/2014 - "This study was undertaken to assess the efficiency and usefulness of serum ferritin level in thalassemia intermedia (TI) patients. " 11/01/2014 - "Serum ferritin level and morbidity risk in transfusion-independent patients with β-thalassemia intermedia: the ORIENT study." 01/01/2013 - "This study was conducted on 40 children with beta thalassemia major under follow-up at Hematology Unit, Pediatric Department, Tanta University Hospital with serum ferritin level more than 1000 ng/ml and was divided into two groups. " 03/01/2002 - "The aim of this study was to evaluate the effect of the H63D mutation on the ferritin levels of beta-thalassemia carriers. " 06/01/2000 - "In this study, PFT findings in thalassemia major were restrictive and correlated with serum ferritin level. "
10.	GlobinsIBA 01/01/2011 - "In order to evaluate the efficacy of a non-invasive prenatal diagnosis (NIPD) test to exclude α-thalassemia major that uses SNPs linked to the normal paternal α-globin allele, we established a novel protocol to reliably detect paternal SNPs within the (--(SEA)) breakpoints and performed evaluation of the diagnostic potential of the protocol in a total of 67 pregnancies, in whom plasma samples were collected prior to invasive obstetrics procedures in southern China. " 08/01/2013 - "This approach detects also the α-globin gene triplication as exemplified by the study of a family where the β-globin gene defect failed to explain the β-thalassemia intermedia phenotype. " 06/01/2012 - "This study provides the experimental evidence for alleviating the clinical symptoms of β-thalassemia major and targeting gene treatment through the regulation of γ-globin." 06/01/2012 - "This study was aimed to detect and identify the promoter CpG island methylation of γ-globin gene in peripheral blood mononuclear cells from patients with β-thalassemia major and healthy adult in Guangxi province, as well as to analyze the difference of promoter methylation rate of each CpG sites between them, and then to screen the promoter CpG island main methylation sites which maybe influence γ-globin expression. " 04/01/2012 - "This study was aimed to analyze the β-globin gene mutations in a patient with β-thalassemia minor. "

Therapies and Procedures

1.	Chelation Therapy (Therapy, Chelation) 02/01/2005 - "Hypertransfusion and regular chelation therapy have allowed improved survival in patients with thalassemia major (TM). " 11/01/2013 - "Our study included 33 patients diagnosed with beta-thalassemia major who were treated with regular transfusions and chelation therapy. " 10/01/2004 - "All available radiographs and MRI studies of the knees in 14 beta-thalassemia major patients (mean age, 16.3 years; age range, 7-33 years) undergoing chelation therapy with L1 were retrospectively assessed for changes in the synovium, cartilage, and bone. " 01/01/1991 - "This study examined anterior pituitary function and the effect of chelation therapy in 31 patients with beta-thalassemia/HbE disease. " 06/01/2015 - "Impact of educational programme regarding chelation therapy on the quality of life for B-thalassemia major children."
2.	Splenectomy 10/01/2002 - "However, for those with beta-thalassemia, partial splenectomy is beneficial in reducing their transfusion requirements only as a temporary measure, and it is recommended for children who are less than 5 years of age." 08/01/1988 - "These results suggest that, even though splenectomy for beta thalassemia causes a relevant incidence of complications and fatalities, surgical treatment permits an improvement in the quality of the lives of patients with beta thalassemia and significantly reduces blood consumption. " 09/01/2009 - "The current researches were conducted to study humoral and cellular immunity in 118 major beta-thalassemia patients during various periods of time after splenectomy. " 09/01/2008 - "To study the effect of splenectomy in patients with thalassemia major on the cardiovascular system through echocardiographic study. " 01/01/1963 - "[IMMUNOELECTROPHORETIC STUDY OF THE BLOOD IN THALASSEMIA MAJOR AND ITS RELATION TO SPLENECTOMY]."
3.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 09/16/1993 - "Patients with homozygous beta-thalassemia, who have a good prognosis during treatment with conventional therapy, appear to have an especially high probability of hematologic cure with bone marrow transplantation, although the morbidity and mortality associated with such treatment are not established. " 02/01/2003 - "Mixed hematopoietic chimerism after bone marrow transplantation can provide effective treatment for beta-thalassemia because of the selective advantage that exists for donor erythropoiesis. " 10/01/2014 - "The aim of this study was to evaluate the endocrinological complications of the patients with thalassemia major (TM) who underwent bone marrow transplantation (BMT) and followed-up more than two years in our center, prospectively. " 08/01/2007 - "The objective of this study was to investigate the curative effect of combined sibling umbilical cord blood and bone marrow transplantation in treatment of beta-thalassemia major. " 08/01/2005 - "The selection of alternative donors of unrelative marrow and the study on the probability of treating thalassemia major with unrelated donor bone marrow transplantation are of importance. "
4.	Hematopoietic Stem Cell Transplantation 10/01/2009 - "Thalassemia major can be cured with allogeneic hematopoietic stem cell transplantation. " 08/01/2012 - "Although successful hematopoietic stem cell transplantation (HSCT) can offer a cure in thalassemia major, there are only a few and noncomprehensive studies of its effect on the quality of life (QoL), as it is expected to increase the QoL by ending transfusion-related issues. " 07/01/2009 - "This study investigated the feasibility of hematopoietic stem cell transplantation from HLA mismatched related donors for beta-thalassemia major in children. " 11/01/2014 - "The clinical outcome of hematopoietic stem cell transplantation (HSCT) for patients with β-thalassemia major (β-TM) can be affected by several factors. " 10/01/2013 - "One of the major obstacle for hematopoietic stem cell transplantation (HSCT) to treat patients with beta-thalassemia is graft rejection (GR). "
5.	Stem Cell Transplantation 11/01/2007 - "The only radical cure for thalassemia major patients today is the replacement of the defective hematopoietic system by allogeneic stem cell transplantation (allo-SCT). " 08/01/2010 - "In particular, the study of beta-thalassemia patients that underwent allogeneic stem cell transplantation and developed stable, long-term mixed chimerism suggests that HSC gene transfer levels of greater than 25% will be needed for a robust therapeutic effect in such patients. " 09/01/2008 - "The purpose of this study is to investigate the role of femoral marrow MR imaging as predictor of outcome for hemopoietic stem cell transplantation (HSCT) in beta-thalassemia major. " 12/01/2014 - "Allogeneic stem cell transplantation for thalassemia major." 02/01/2013 - "Thalassemia major and its treatment by stem cell transplantation can have deleterious effects on bone integrity. "