Genomes and Genes
Summary: 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.
Publications279 found, 100 shown here
- Complications of beta-thalassemia major in North AmericaMelody J Cunningham
Children s Hospital, Dana Farber Cancer Institute and Harvard Medical School, Boston, MA 02115, USA
Blood 104:34-9. 2004..We conclude that hepatitis C, iron-related organ dysfunction, and complications of iron chelation therapy are strongly age-dependent in North American patients with beta-thalassemia...
- An abundant erythroid protein that stabilizes free alpha-haemoglobinAnthony J Kihm
The Children s Hospital of Philadelphia, Division of Hematology and the University of Pennsylvania, Philadelphia, Pennsylvania 19104 616, USA
Nature 417:758-63. 2002..Accordingly, AHSP gene dosage is predicted to modulate pathological states of alpha-haemoglobin excess, such as beta-thalassaemia...
- Alpha and beta thalassemiaHerbert L Muncie
Louisiana State University Health Sciences Center, New Orleans, Louisiana 70112, USA
Am Fam Physician 80:339-44. 2009..Alpha thalassemia is caused by reduced or absent synthesis of alpha globin chains, and beta thalassemia is caused by reduced or absent synthesis of beta globin chains...
- A comparison of magnetic resonance imaging and cardiac biopsy in the evaluation of heart iron overload in patients with beta-thalassemia majorSophie I Mavrogeni
Onassis Cardiac Surgery Center, Athens, Greece
Eur J Haematol 75:241-7. 2005..Background: Myocardial iron accumulation is the main cause for cardiac complications in beta-thalassemia...
- Genetic modifiers of beta-thalassemiaSwee Lay Thein
Department of Haematological Medicine, Guy s, King s and St Thomas School of Medicine King s College London, Denmark Hill Campus, Bessemer Road, London SE5 9PJ, UK
Haematologica 90:649-60. 2005..b>Beta thalassemia occurs when there is a deficiency in the synthesis of beta globin chains...
- Platelet transfusion refractoriness in highly immunized beta thalassemia children undergoing stem cell transplantationSarah Marktel
Pediatric Immunohematology and Bone Marrow Transplantation Unit, San Raffaele Scientific Institute, Milan, Italy
Pediatr Transplant 14:393-401. 2010..In a cohort of 50 pediatric patients affected by beta thalassemia coming from Middle East countries, we experienced a high incidence of refractoriness because of anti-HLA ..
- Glutathione S-transferase gene deletions and their effect on iron status in HbE/beta thalassemia patientsVineeta Sharma
Department of Hematology, I R C H Building first floor, All India Institute of Medical Sciences AIIMS, Ansari Nagar, New Delhi 110 029, India
Ann Hematol 89:411-4. 2010Iron overload and oxidative stress are main pathophysiological features of HbE/beta thalassemia patients...
- Hemoglobin E-beta thalassemia: factors affecting phenotypeI Panigrahi
Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, U P, India
Indian Pediatr 42:357-62. 2005..Thus, presentation is similar to previously reported Thai cases. Heterozygosity of Xmn I polymorphism also delays disease onset. Early diagnosis facilitates appropriate management and prenatal diagnosis...
- Clinical manifestation of beta-thalassemia/hemoglobin E diseaseS Fucharoen
Thalassemia Research Center, Institute of Science and Technology for Research and Development, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Salaya, Puttamonthon, Nakornpathorm, Thailand
J Pediatr Hematol Oncol 22:552-7. 2000..To review the clinical manifestation and changes in hematologic parameters of patients with beta-thalassemia/hemoglobin (Hb) E...
- Improved survival of thalassaemia major in the UK and relation to T2* cardiovascular magnetic resonanceBernadette Modell
UCL Centre for Health Informatics and Multiprofessional Education, Holborn Union Building, Whittington Campus, Highgate Hill, London, N19 5LW, UK
J Cardiovasc Magn Reson 10:42. 2008..A study of survival and causes of death was undertaken which aimed to include the possible impact of T2* cardiovascular magnetic resonance (CMR)...
- Normalisation of total body iron load with very intensive combined chelation reverses cardiac and endocrine complications of thalassaemia majorKallistheni Farmaki
Transfusion Department and Thalassaemia Unit, General Hospital of Corinth, Leoforos Athinon 53, Corinth 20100, Greece
Br J Haematol 148:466-75. 2010..These results suggest that intensive combined chelation normalized patients' iron load and thereby prevented and reversed cardiac and multiple endocrine complications associated with transfusion iron overload...
- Cardiovascular T2-star (T2*) magnetic resonance for the early diagnosis of myocardial iron overloadL J Anderson
Cardiovascular MR Unit, Royal Brompton Hospital, London, UK
Eur Heart J 22:2171-9. 2001..Early intensification of iron chelation therapy, guided by this technique, should reduce mortality from this reversible cardiomyopathy...
- The pancreas in beta-thalassemia major: MR imaging features and correlation with iron stores and glucose disturbancesOlympia Papakonstantinou
Department of Radiology, University Hospital of Heraklion, Medical School of Crete, Heraklion, Crete, Greece
Eur Radiol 17:1535-43. 2007..Iron deposition in the pancreas cannot be predicted by the degree of hepatic siderosis in beta-thalassemia major. Fatty replacement of the pancreas is common and may be associated with glucose disturbances...
- Magnetic resonance evaluation of liver and myocardial iron deposition in thalassemia intermedia and b-thalassemia majorSophie Mavrogeni
Onassis Cardiac Surgery Center, 50 Esperou Street, 175 61 P Faliro, Athens, Greece
Int J Cardiovasc Imaging 24:849-54. 2008..We hypothesized that the TI group could be differentiated from the TM group based on T2*. We also hypothesized that the TI group would demonstrate significantly higher cardiac output compared to the TM group...
- Cardiac related death in thalassaemia major: time trend and risk factors in a large Greek UnitGiorgos Chouliaras
Thalassaemia Unit, First Department of Paediatrics, Aghia Sophia Children s Hospital, Athens, Greece
Eur J Haematol 82:381-7. 2009..Improved management protocols including new chelators and imaging have reduced cardiac-related deaths but also require more advanced analytical methods to reflect temporal fluctuations in mortality risk...
- Cord blood stem cell transplantation for haemoglobinopathiesFernando O Pinto
Department of Paediatric Haematology, Imperial College Healthcare NHS Trust, London, UK
Br J Haematol 141:309-24. 2008..Further biological studies and clinical trials are needed to address this aim...
- Risk factors for death in patients with beta-thalassemia major: results of a case-control studyAdriana Ceci
Haematologica 91:1420-1. 2006..The mortality risk was lower in patients with good compliance to iron chelation therapy and in those treated with deferiprone...
- Prevention of homozygous beta thalassemia by premarital screening and prenatal diagnosis in IndiaParag M Tamhankar
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226014, India
Prenat Diagn 29:83-8. 2009To determine the feasibility and acceptability of premarital screening for beta thalassemia/related hemoglobinopathies followed by prenatal diagnosis in India.
- Studies in haemoglobin E beta-thalassaemiaNancy F Olivieri
Hemoglobinopathy Research Program, Toronto General Hospital, University of Toronto, Toronto, ON, Canada
Br J Haematol 141:388-97. 2008..Age-related changes in the pattern of adaptation to anaemia suggest that more cost-effective approaches to management should be explored...
- BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobinopathiesAmanda E Sedgewick
Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts 02118, USA
Blood Cells Mol Dis 41:255-8. 2008..Taken together, the data suggest that the functional motifs responsible for modulating F-cells and HbF levels reside within a 3 kb region in the second intron of BCL11A...
- Genetic modifiers of the beta-haemoglobinopathiesSwee Lay Thein
King s College London School of Medicine, Department of Haematological Medicine, King s College Hospital, London, UK
Br J Haematol 141:357-66. 2008..Integrating multiplex genetic testing with clinical and laboratory data to generate predictive models shows potential, but such genetic approaches also require large datasets...
- Combined chelation therapy in thalassemia major for the treatment of severe myocardial siderosis with left ventricular dysfunctionMark A Tanner
Cardiovascular Magnetic Resonance Unit, Royal Brompton Hospital, London, UK
J Cardiovasc Magn Reson 10:12. 2008..Combined chelation therapy with deferiprone and deferoxamine is effective for moderate myocardial siderosis, but has not been prospectively examined in severe myocardial siderosis...
- A single breath-hold multiecho T2* cardiovascular magnetic resonance technique for diagnosis of myocardial iron overloadMark Westwood
Cardiovascular MR Unit, Royal Brompton Hospital and Imperial College, London, UK
J Magn Reson Imaging 18:33-9. 2003..To assess tissue iron concentrations by the use of a gradient echo T2* multiecho technique...
- A new stratification strategy that identifies a subset of class III patients with an adverse prognosis among children with beta thalassemia major undergoing a matched related allogeneic stem cell transplantationVikram Mathews
Department of Haematology, Christian Medical College and Hospital, Vellore, India
Biol Blood Marrow Transplant 13:889-94. 2007..ninety patients underwent 197 HLA-matched related allogeneic stem cell transplantation for a diagnosis of beta thalassemia major at our center. The median age (+/-SD) was 7+/-4.1 years, and there were 129 (68%) males...
- Molecular diagnosis and carrier screening for beta thalassemiaA Cao
Istituto di Clinica e Biologia dell Età Evolutiva Universitá degli Studi di Cagliari, Italy
JAMA 278:1273-7. 1997..Molecular diagnosis of homozygotes and identification of carriers of beta thalassemia may lead to improved clinical management of patients with the disorder and prevention of the birth of ..
- Cardiac T2* magnetic resonance for prediction of cardiac complications in thalassemia majorP Kirk
Cardiovascular Magnetic Resonance Unit, Royal Brompton Hospital, Sydney St, London SW3 6NP, UK
Circulation 120:1961-8. 2009..The goal of this study was to determine the predictive value of cardiac T2* magnetic resonance for heart failure and arrhythmia in thalassemia major...
- Unpredictability of intravenous busulfan pharmacokinetics in children undergoing hematopoietic stem cell transplantation for advanced beta thalassemia: limited toxicity with a dose-adjustment policyRobert Chiesa
Pediatric Immunohematology and Bone Marrow Transplantation Unit, San Raffaele Scientific Institute, Milan, Italy
Biol Blood Marrow Transplant 16:622-8. 2010..Conditioning with i.v. Bu and dose adjustment is feasible and well tolerated, although recurrence of thalassemia remains an unsolved problem in children with advanced disease...
- Augmentation of left atrial contractile function: a herald of iron overload in patients with beta thalassemia majorReza Shabanian
Department of Pediatric Cardiology, Children s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
Pediatr Cardiol 31:680-8. 2010Early detection of myocardial iron overload is crucial for optimal management of patients with beta thalassemia major, which could lead to intensification of iron chelating therapy...
- Cellular immune reconstitution and its impact on clinical outcome in children with beta thalassemia major undergoing a matched related myeloablative allogeneic bone marrow transplantReena Rajasekar
Department of Haematology, Christian Medical College, Vellore, India
Biol Blood Marrow Transplant 15:597-609. 2009We have prospectively analyzed cellular immune reconstitution (IR) in 63 consecutive pediatric patients with beta thalassemia major who underwent an HLA matched related allogeneic bone marrow transplant (BMT)...
- Detection of responsible mutations for beta thalassemia in the Kermanshah Province of Iran using PCR-based techniquesZohreh Rahimi
Medical Biology Research Center, Medical School, Kermanshah University of Medical Sciences, Kermanshah, Iran
Mol Biol Rep 37:149-54. 2010b>Beta Thalassemia has been reported to be a common genetic disorder in Iran...
- Cyclosporin A and mini short-term methotrexate vs cyclosporin A as graft-versus-host disease prophylaxis in patients with beta thalassemia major undergoing allogeneic blood and marrow transplantationM Iravani
Hematology Oncology and BMT Research Center, Tehran University of Medical Sciences, Tehran, Iran
Bone Marrow Transplant 35:1095-9. 2005..58). Overall survival in the CsA and CsA+MTX groups was 77 and 85%, respectively. Disease-free survival in the CsA and CsA+MTX groups were 58 and 80%, respectively...
- Endothelial dysfunction and oxidant status in pediatric patients with hemoglobin E-beta thalassemiaVeerapol Kukongviriyapan
Department of Pharmacology, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand 40002
Pediatr Cardiol 29:130-5. 2008..We investigated endothelial function in pediatric patients with hemoglobin E-beta thalassemia (HbE-beta thalassemia), who have been exposed to excessive iron and oxidative stress for much shorter period ..
- Tissue Doppler echocardiography reliably reflects severity of iron overload in pediatric patients with beta thalassemiaSuchaya Silvilairat
Division of Pediatric Cardiology, Chiang Mai University, Chiang Mai, Thailand
Eur J Echocardiogr 9:368-72. 2008Tissue Doppler imaging has been recently used to evaluate ventricular function in patients with beta thalassemia. In clinical practice, serum ferritin is commonly used to assess the severity of iron overload...
- Pulmonary hypertension in patients with sickle cell/beta thalassemia: incidence and correlation with serum N-terminal pro-brain natriuretic peptide concentrationsErsi Voskaridou
Thalassemia Center, Laikon General Hospital, Athens, Greece
Haematologica 92:738-43. 2007..The aim of this study was to evaluate the incidence of PH and its correlation with clinical and laboratory findings, including NT-proBNP, in patients with HbS/beta-thal...
- Growth hormone reserve in adult beta thalassemia patientsGuy Vidergor
Hebrew University Hadassah Medical School, Jerusalem, 91120, Israel
Endocrine 31:33-7. 2007..The clinical benefits of GH therapy need to be determined. GHD alone does not account for the high prevalence of reduced IGF-1 in adult beta-thalassemia...
- Iron overload and iron-chelating therapy in hemoglobin E-beta thalassemiaN F Olivieri
Department of Medicine, University of Toronto, Canada
J Pediatr Hematol Oncol 22:593-7. 2000Whereas hemoglobin (Hb) E-beta thalassemia is recognized as probably the most common serious hemoglobinopathy worldwide, its natural history remains poorly defined...
- Response to hydroxyurea in beta thalassemia major and intermedia: experience in western IndiaKhushnooma Y Italia
National Institute of Immunohaematology, 13th Floor, K E M Hospital Campus, Parel, Mumbai 400 012, India
Clin Chim Acta 407:10-5. 2009The clinical and hematological response to hydroxyurea was evaluated in beta thalassemia patients in western India with variable clinical severity and correlated with genetic factors.
- Use of strain and tissue velocity imaging for early detection of regional myocardial dysfunction in patients with beta thalassemiaAmal M Hamdy
Cardiology Department, Al Zahraa University Hospital, Al Azhar University, Cairo, Egypt
Eur J Echocardiogr 8:102-9. 2007Iron overload contributes to cardiac dysfunction in patients with beta thalassemia (Th). Tissue velocity and strain imaging (TVI and SI) might prove useful in early detection of regional myocardial dysfunction in these patients...
- Italian Society of Hematology practice guidelines for the management of iron overload in thalassemia major and related disordersEmanuele Angelucci
Hematology Department and BMT Unit, Cancer Center Armando Businco, viale Edward Jenner, 09121 Cagliari, Italy
Haematologica 93:741-52. 2008....
- Long-term efficacy of oral deferiprone in management of iron overload in beta thalassemia majorHimanshu Goel
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
Hematology 13:77-82. 2008..Variable response to deferiprone has been observed in the management of iron overload in patients with thalassemia major. Our objective was to assess the long-term efficacy of deferiprone in patients with thalassemia major...
- Survival and complications in thalassemiaC Borgna-Pignatti
Department of Pediatrics, University of Ferrara, Ferrara, Italy
Ann N Y Acad Sci 1054:40-7. 2005..New complications are appearing in long-term survivors. Iron overload of the heart remains the main cause of morbidity and mortality...
- Multislice multiecho T2* cardiovascular magnetic resonance for detection of the heterogeneous distribution of myocardial iron overloadAlessia Pepe
MRI Laboratory, Institute of Clinical Physiology, Consiglio Nazionale delle Ricerche, Pisa, Italy
J Magn Reson Imaging 23:662-8. 2006..To assess the tissue iron concentration of the left ventricle (LV) using a multislice, multiecho T2* MR technique and a segmental analysis...
- Rapid screening of multiple beta-globin gene mutations by real-time PCR on the LightCycler: application to carrier screening and prenatal diagnosis of thalassemia syndromesChristina Vrettou
Medical Genetics, Athens University, St Sophia s Children s Hospital, Athens 11527, Greece
Clin Chem 49:769-76. 2003..Hemoglobinopathies are priority genetic diseases for prevention programs. Rapid genotype characterization is fundamental in the diagnostic laboratory, especially when offering prenatal diagnosis for carrier couples...
- Elastic tissue abnormalities resembling pseudoxanthoma elasticum in beta thalassemia and the sickling syndromesAthanasios Aessopos
First Department of Internal Medicine, University of Athens, School of Medicine, Laiko General Hospital, Athens, Greece
Blood 99:30-5. 2002..inherited pseudoxanthoma elasticum (PXE), has been encountered with a notable frequency in patients with beta thalassemia, sickle cell disease, and sickle thalassemia...
- Evaluation of alpha hemoglobin stabilizing protein (AHSP) as a genetic modifier in patients with beta thalassemiaVip Viprakasit
Department of Pediatrics and Siriraj Thalassemia Research Program, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand
Blood 103:3296-9. 2004Although beta thalassemia is considered to be a classic monogenic disease, it is clear that there is considerable clinical variability between patients who inherit identical beta globin gene mutations, suggesting that there may be a ..
- Current trends in the management of beta thalassemiaA P Dubey
Department of Pediatrics, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India
Indian J Pediatr 75:739-43. 2008The management of Beta Thalassemia, the commonest form of hemolytic anemia in children, has changed significantly in the last few years...
- Relative response of patients with myelodysplastic syndromes and other transfusion-dependent anaemias to deferasirox (ICL670): a 1-yr prospective studyJohn Porter
University College London, London, UK
Eur J Haematol 80:168-76. 2008..Dosage was determined by baseline liver iron concentration (LIC)...
- A scoring system for the classification of beta-thalassemia/Hb E disease severityOrapan Sripichai
Thalassemia Research Center, Institute of Science and Technology for Research and Development, Mahidol University, Nakhonpathom, Thailand
Am J Hematol 83:482-4. 2008..This system, therefore, can increase the accuracy of studies of genotype-phenotype interactions and facilitate decisions for appropriate patient management...
- The prevalence and spectrum of alpha and beta thalassaemia in Guangdong Province: implications for the future health burden and population screeningX M Xu
Department of Medical Genetics, First Military Medical University, Guangzhou 510515, Guangdong, PR China
J Clin Pathol 57:517-22. 2004..Accurate population frequency data are needed for planning the control of thalassaemia in the high risk Guangdong Province of southern China...
- A randomized, placebo-controlled, double-blind trial of the effect of combined therapy with deferoxamine and deferiprone on myocardial iron in thalassemia major using cardiovascular magnetic resonanceM A Tanner
Cardiovascular Magnetic Resonance Unit, Royal Brompton Hospital, Sydney St, London SW3 6NP, UK
Circulation 115:1876-84. 2007..The oral iron chelator deferiprone has been demonstrated to remove myocardial iron, and it has been proposed that in combination with deferoxamine it may have additional effect...
- Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplificationC L Harteveld
Center of Human and Clinical Genetics, Leiden University Medical Center, The Netherlands
J Med Genet 42:922-31. 2005..3 and 11p15.5, respectively. Gap-PCR, Southern blot analysis, and fluorescent in situ hybridisation are commonly used to identify these deletions; however, many deletions go undetected using conventional techniques...
- Improving survival with deferiprone treatment in patients with thalassemia major: a prospective multicenter randomised clinical trial under the auspices of the Italian Society for Thalassemia and HemoglobinopathiesAurelio Maggio
U O C Ematologia II con Talassemia, A O V Cervello, Palermo, Italy
Blood Cells Mol Dis 42:247-51. 2009..013). 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...
- Heme-regulated eIF2alpha kinase modifies the phenotypic severity of murine models of erythropoietic protoporphyria and beta-thalassemiaAn Ping Han
Harvard Massachusetts Institute of Technology Division of Health Sciences and Technology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA
J Clin Invest 115:1562-70. 2005..Our findings also demonstrate that translational regulation could play a critical role in the clinical manifestation of rbc diseases...
- Hepatic iron overload does not prevent a sustained virological response to interferon-alpha therapy: a long term follow-up study in hepatitis C-infected patients with beta thalassemia majorWilliam Sievert
Monash University Department of Medicine, Monash Medical Centre, Melbourne, Australia
Am J Gastroenterol 97:982-7. 2002Transfusion-acquired chronic hepatitis C infection and systemic iron overload are common in patients with beta thalassemia major...
- Early markers of renal dysfunction in patients with beta-thalassemia majorMasoumeh Mohkam
Department of Pediatric Nephrology, Pediatric Infectious Research Center, Mofid Children s Hospital, Shaheed Beheshti University of Medical Sciences and Health Services, Shariatti Ave, 15468 Tehran, Iran
Pediatr Nephrol 23:971-6. 2008..2). We concluded that renal disorders are not rare in patients with beta-thalassemia major and that they may increase in terms of frequency with age, increased duration of transfusion and deferoxamine usage and high levels of blood sugar...
- Regional and ethnic distribution of beta thalassemia mutations and effect of consanguinity in patients referred for prenatal diagnosisMaimoona Hafeez
Department of Obs Gynae, Lahore Medical and Dental College, Lahore
J Coll Physicians Surg Pak 17:144-7. 2007To determine the regional and ethnic distribution of beta thalassemia mutation and the effect of consanguinity in patients referred for prenatal diagnosis of beta b-thalassemia and to target the high risk population for screening.
- Hematopoietic stem cell mobilization strategies for gene therapy of beta thalassemia and sickle cell diseaseEvangelia Yannaki
Gene and Cell Therapy Center, Hematology BMT Unit, George Papanicolaou Hospital, Thessaloniki, Greece
Ann N Y Acad Sci 1202:59-63. 2010..mobilization in hemoglobinopathies and we outline the approaches used in an on-going clinical trial in which pretreatment with hydroxyurea is used to reduce potential risks of G-CSF administration to patients with severe beta thalassemia.
- Successful correction of the human Cooley's anemia beta-thalassemia major phenotype using a lentiviral vector flanked by the chicken hypersensitive site 4 chromatin insulatorPunam Malik
Saban Research Institute, Division of Hematology Oncology, Childrens Hospital Los Angeles, Department of Pediatrics, Los Angeles, California 90027, USA
Ann N Y Acad Sci 1054:238-49. 2005..Results show genetic correction of primitive human progenitor cells and normalization of the human thalassemia major phenotype...
- The efficacy of iron chelator regimes in reducing cardiac and hepatic iron in patients with thalassaemia major: a clinical observational studyVasilios Berdoukas
Thalassaemia Unit, First Department of Paediatrics, University of Athens, Aghia Sophia Children s Hospital, Athens, Greece
J Cardiovasc Magn Reson 11:20. 2009..The aim of this study was to assess the efficacy of four available iron chelator regimes in 232 thalassaemia major patients by assessing the rate of change in repeated measurements of cardiac and hepatic MR...
- Renal dysfunction in patients with beta-thalassemia major receiving iron chelation therapy either with deferoxamine and deferiprone or with deferasiroxMarina Economou
First Department of Pediatrics, Aristotle University of Thessaloniki, Hippokration General Hospital, Thessaloniki, Greece
Acta Haematol 123:148-52. 2010..Further studies are needed in order to investigate the role of new chelators in tubular function parameters...
- The hemoglobin E syndromesD C Rees
MRC Molecular Haematology Unit, The John Radcliffe, Headington, Oxford, United Kingdom
Ann N Y Acad Sci 850:334-43. 1998..However, the compound heterozygote state HbE/beta thalassemia results in a variable, and often severe anemia, with the phenotype ranging from transfusion dependence to a ..
- Emerging insights in the management of hemoglobin E beta thalassemiaNancy F Olivieri
Hemoglobinopathy Research Program, Toronto General Hospital, University of Toronto, Toronto, Ontario, Canada
Ann N Y Acad Sci 1202:155-7. 2010Globally, hemoglobin (Hb) E beta thalassemia accounts for approximately half the severe forms of beta thalassemia...
- Prevalence of hepatosplenomegaly in beta thalassemia minor subjects in IranMehran Karimi
Hemostasis and Thrombosis Unit, Hematology Research Center, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
Eur J Radiol 69:120-2. 2009..Iran is located on the thalassemic belt and there is a high prevalence of the hepatosplenomegaly in beta thalassemia minor patients which is reported to be very variable...
- Pulmonary hypertension in beta-thalassemiaAthanasios Aessopos
First Department of Internal Medicine, University of Athens Medical School, Laiko General Hospital, 17 Aghiou Thoma St, Athens 115 27, Greece
Ann N Y Acad Sci 1054:342-9. 2005....
- Magnetic resonance imaging in the evaluation of iron overload in patients with beta thalassaemia and sickle cell diseaseErsi Voskaridou
Thalassaemia Centre, Laikon General Hospital, 16 Sevastoupoleos Street, GR 11526 Athens, Greece
Br J Haematol 126:736-42. 2004....
- Response to hydroxyurea treatment in Iranian transfusion-dependent beta-thalassemia patientsMajid Yavarian
Thalassemia Medical Center, Medical Faculty, Bandar Abbas University, Iran
Haematologica 89:1172-8. 2004..The aim of this study was to monitor treatment of a large cohort of patients with beta-thalassemia major in order to establish the response to HU and the associated elements...
- Liver iron concentration and fibrosis in a cohort of transfusion-dependent patients on long-term desferrioxamine therapyVasili Berdoukas
The Sydney Children s Hospital, Randwick, Australia
Hematol J 5:572-8. 2005..Liver iron levels appear to be maintained in patients who are compliant to desferrioxamine treatment, but overall there is little evidence of significant improvement in liver iron in these patients and in the group as a whole...
- Peripheral blood versus bone marrow as a source of hematopoietic stem cells for allogeneic transplantation in children with class I and II beta thalassemia majorArdeshir Ghavamzadeh
Hematology Oncology and Stem Cell Research Center, University of Tehran Medical Sciences, Tehran, Iran
Biol Blood Marrow Transplant 14:301-8. 2008..The 2-year disease-free survival was 76% in both groups. These results show some advantages of PBSCT, but to improve the risk of GVHD in PBSCT, a better conditioning and prophylaxis regimen is needed...
- Liver iron concentrations and urinary hepcidin in beta-thalassemiaRaffaella Origa
Dipartimento di Scienze Biomediche e Biotecnologie, Universita di Cagliari, Ospedale Microcitemico ASL8 Cagliari, Italy
Haematologica 92:583-8. 2007..Hepcidin deficiency is the cause of iron overload in most forms of hereditary hemochromatosis. We sought to determine hepcidin's role in the pathogenesis of iron overload in b-thalassemia...
- Modification of CYP2E1 and CYP3A4 activities in haemoglobin E-beta thalassemia patientsNuntiya Somparn
Department of Pharmacology, Faculty of Medicine, Khon Kaen University, 40002 Khon Kaen, Thailand
Eur J Clin Pharmacol 63:43-50. 2007..The impact of the disease on the drug metabolising enzyme cytochrome P450 (CYP) is not known. CYP2E1 and CYP3A4 are responsible for the metabolism of a large number of drugs and changes in their activities may have clinical consequences...
- Influence of Ggamma-158C --> and beta- (AT)x(T)y globin gene polymorphisms on HbF levels in Italian beta-thalassemia carriers and wild-type subjectsValentina Guida
Haematologica 91:1275-6. 2006..The -158GgammaT and the (AT)9(T)5alleles were found to be associated with increased levels of HbF in beta-thal carriers, but not in wild-type subjects...
- Randomized phase II trial of deferasirox (Exjade, ICL670), a once-daily, orally-administered iron chelator, in comparison to deferoxamine in thalassemia patients with transfusional iron overloadAntonio Piga
Centro Microcitemie, Divisione di Ematologia Pediatrica, Dipartimento di Scienze Pediatriche, Universita di Torino, Italy
Haematologica 91:873-80. 2006..In a phase II study, the tolerability and efficacy of deferasirox were compared with those of DFO in 71 adults with transfusional hemosiderosis...
- Hypocalcemic heart failure in thalassemic patientsM Tsironi
First Department of Internal Medicine, University of Athens, Medical School, Laiko Hospital, Athens, Greece
Int J Hematol 83:314-7. 2006....
- Combined therapy with deferiprone and desferrioxamine in thalassemia majorRaffaella Origa
Dipartimento di Scienze Biomediche e Biotecnologie Ospedale Regionale per le Microcitemie, ASL 8, Universita degli Studi, Cagliari, Italy
Haematologica 90:1309-14. 2005....
- The survival analysis of beta thalassemia major patients in South East of IranMasoud Roudbari
Department of Public Health, Center for Children and Adolescent Health, Zahedan University of Medical Sciences and Health Services, Mashahir Sq, School of Public Health, Zahedan 98165, I R Iran
Saudi Med J 29:1031-5. 2008..To determine the survival of beta-thalassemia major patients with transfusion, and its related factors in Southeast of Iran...
- Unrelated bone marrow transplantation for beta-thalassemia patients: The experience of the Italian Bone Marrow Transplant GroupGiorgio La Nasa
Centro Trapianti Midollo Osseo, Ospedale R Binaghi ASL 8, Via Is Guadazzonis 3, 09126 Cagliari, Italy
Ann N Y Acad Sci 1054:186-95. 2005..These data show that when donor selection is based on stringent compatibility criteria, the results of unrelated transplantation in thalassemia patients are comparable to those obtained when the donor is a compatible sibling...
- Association of SNP in exon 1 of HBS1L with hemoglobin F level in beta0-thalassemia/hemoglobin ERiyaz A Pandit
Thalassemia Research Center, Institute of Science and Technology for Research and Development, Mahidol University, Salaya Campus, Nakornpathom, Thailand
Int J Hematol 88:357-61. 2008....
- Diabetes mellitus and impaired glucose tolerance in thalassaemia major: incidence, prevalence, risk factors and survival in patients followed in the Ferrara CenterMaria Rita Gamberini
Department of Reproduction and Growth, Paediatric and Adolescent Unit, S Anna Hospital, Ferrara, Italy
Pediatr Endocrinol Rev 2:285-91. 2004..Iron overload and liver disease were the main associated risk factors, while positive family history for diabetes did not influence glucose metabolism in our patients...
- R2 relaxometry with MRI for the quantification of tissue iron overload in beta-thalassemic patientsEfthymia Alexopoulou
Second Department of Radiology, National and Kapodistrian University of Athens, Athens, Greece
J Magn Reson Imaging 23:163-70. 2006..To evaluate the usefulness of a time-efficient MRI method for the quantitative determination of tissue iron in the liver and heart of beta-thalassemic patients using spin-spin relaxation rate, R2, measurements...
- Pituitary gland height evaluated by MR in patients with beta-thalassemia major: a marker of pituitary gland functionM I Argyropoulou
Department of Radiology, Medical School, University of Ioannina, Greece
Neuroradiology 43:1056-8. 2001..34; SD 1.52) and age- and gender-matched controls (mean 5.91; SD 1.06). We conclude that in thalassemic patients the pituitary gland height is an additional marker of pituitary gland function and might be useful in clinical management...
- A novel mechanism for thalassaemia intermediaC Badens
Lancet 359:132-3. 2002..Thus, loss of heterozygosity can be a cause of non-malignant genetic disease...
- Right ventricular cardiomyopathy in beta-thalassaemia majorG Hahalis
Division of Cardiology, Department of Internal Medicine, Patras University Medical School, Patras, Greece
Eur Heart J 23:147-56. 2002..However, the possibility of direct right ventricular myocardial involvement in the absence of significant pulmonary hypertension has not been adequately investigated...
- Pathogenetic aspects of immune deficiency associated with beta-thalassemiaDimitrios Farmakis
1st Department of Internal Medicine, Laiko General Hospital, School of Medicine, University of Athens, Athens, Greece
Med Sci Monit 9:RA19-22. 2003..Thus surveillance for infections in patients with beta-thalassemia is crucial, while further studies are warranted on immune function abnormalities and the implicated mechanisms...
- Heart failure in beta thalassemia: a 5-year follow-up studyD T Kremastinos
2nd Department of Cardiology, Onassis Cardiac Surgery Center, Athens, Greece
Am J Med 111:349-54. 2001PURPOSE: To evaluate the survival of patients with beta thalassemia and heart failure who were treated with iron chelation therapy...
- Hepatic iron concentration and total body iron stores in thalassemia majorE Angelucci
Unità Operativa Ematologia e Centro Trapianto Midollo Osseo di Muraglia, Azienda Ospedale di Pesaro, Italy
N Engl J Med 343:327-31. 2000....
- Fetal HLA typing in beta thalassaemia: implications for haemopoietic stem-cell transplantationMaria Grazia Orofino
Universita degli Studi di Cagliari, Department of Biomedical Science and Biotechnology, Paediatric Clinic of the Bone Marrow Transplant Centre, Cagliari, Italy
Lancet 362:41-2. 2003..Two affected children were born and successfully received a transplantation from a family donor. Five non-affected fetuses were HLA compatible with an affected sibling and their cord blood was harvested for a future transplantation...
- [Psychosocial aspects of beta-thalassemia: distress, coping and adherence]L Goldbeck
Universitäts Kinderklinik Ulm
Klin Padiatr 212:254-9. 2000..This study describes the patients' perspective, their typical coping strategies, health related locus-of-control-beliefs and psychosocial influences on adherence...
- Relationship between genotype and phenotype. Thalassemia intermediaR Galanello
Istituto di Clinica e Biologia dell Età Evolutiva, Ospedale Regionale, Cagliari, Italy
Ann N Y Acad Sci 850:325-33. 1998..In contrast, there are simple beta-thalassemia carriers who, for unknown reasons, have an unusually severe clinical phenotype...
- Combined therapy with desferrioxamine and deferiprone in thalassemic patients: effect on urinary iron excretionAntonis Kattamis
Haematologica 88:1423-5. 2003
- Interscanner reproducibility of cardiovascular magnetic resonance T2* measurements of tissue iron in thalassemiaMark A Westwood
Cardiovascular MR Unit, Royal Brompton Hospital, London, United Kingdom
J Magn Reson Imaging 18:616-20. 2003..To assess interscanner reproducibility of tissue iron measurements in patients with thalassemia using gradient echo T2* measurements on two different MRI scanners...
- Cholelithiasis and Gilbert's syndrome in homozygous beta-thalassaemiaR Galanello
Ospedale Regionale Microcitemie, Dipartimento di Scienze Biomediche e Biotecnologie, University of Cagliari, Via Jenner s n 09121, Cagliari, Italy
Br J Haematol 115:926-8. 2001..05) in patients homozygous for the (TA7) motif in the promoter of the UGT1-A1 gene, the genotype associated with Gilbert's syndrome, which seems to be a risk factor for the development of gallstones in TM and TI patients...
- Impact of long-term iron chelation therapy on growth and endocrine functions in thalassaemiaVincenzo De Sanctis
Department of Reproduction and Growth, Paediatric and Adolescent Unit, S Anna Hospital, Ferrara, Italy
J Pediatr Endocrinol Metab 19:471-80. 2006..In conclusion, our study noted a positive effect of DFX therapy on sexual maturation and endocrine complications. Nevertheless, short stature has persisted despite major advances in treatment...
- Liver fibrosis and iron levels during long-term deferiprone treatment of thalassemia major patientsShu Fen Wu
Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan
Hemoglobin 30:215-8. 2006..In this study, most thalassemia major patients had no progression of hepatic fibrosis or increased liver iron stores during long-term LI therapy...
- Comparison of oral and subcutaneous iron chelation therapies in the prevention of major endocrinopathies in beta-thalassemia major patientsChung Hsing Wang
Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan
Hemoglobin 30:257-62. 2006....
- A randomized controlled study evaluating the safety and efficacy of deferiprone treatment in thalassemia major patients from Hong KongShau Yin Ha
Department of Pediatrics and Adolescent Medicine, The University of Hong Kong, Queen Mary Hospital, PR China
Hemoglobin 30:263-74. 2006..We conclude that the short-term use of L1, with or without DFO, was safe and efficacious in our Chinese patient cohort. The long-term efficacy of reducing iron overload by treatment regimens including L1 requires further study...
- Pilot study on the "quality of life" as reflected by psychosocial adjustment of children with thalassemia major undergoing iron-chelating treatment in western TaiwanHuang Tsung Kuo
Department of Developmental and Behavioral Pediatrics, Taichung, Taiwan
Hemoglobin 30:291-9. 2006..This approach to the study of QL, as reflected by psychosocial adjustment in children with TM, is an excellent method for learning about parental-child adjustment regarding a chronic physical condition such as TM...
- Comparison between desferrioxamine and combined therapy with desferrioxamine and deferiprone in iron overloaded thalassaemia patientsFadi H Mourad
Department of Internal Medicine, The American University of Beirut Medical Centre, Beirut, Lebanon
Br J Haematol 121:187-9. 2003..Main side-effects were skin reactions (DFX alone), nausea and arthralgia (combined therapy). As chelation therapy, the combined protocol was as effective as DFX five times weekly...
- Jaundice and alpha gene triplication in beta-thalassemia: association or causation?Inusha Panigrahi
All India Institute of Medical Sciences, Department of Hematology, Ansari Nagar, New Delhi, 110029, India
Hematology 11:109-12. 2006..Patients with alpha-triplication may develop prominent jaundice with marked increase in serum bilirubin following antecedent aggravating factors...
- First Spanish case of thalassemia major due to a compound heterozygosity for the IVS-II-848 (C --> A) and codon 39 (C --> T) mutations of the beta-globin genePaloma Ropero
Servicio de Hematologia y Hemoterapia, Hospital Clinico San Carlos de Madrid, Madrid, Espana
Hemoglobin 30:15-21. 2006..From a therapeutic point of view, early introduction of a transfusion regimen may improve the clinical picture of these children, allowing for better development and growth...
- Mild beta-thalassemia intermedia caused by compound heterozygosity for (G)gamma((A)gammadeltabeta)(o)/beta-thalassemia and molecular characterization of the defect in four Chinese familiesMary Anne Tan Jin Ai
Department of Allied Health Sciences, Faculty of Medicine, University of Malaya, Lembah Pantai, Kuala Lumpur, Malaysia
Acta Haematol 109:169-75. 2003..7)/alphaalpha) in the children together with their compound heterozygous condition...
- Single and combination drug therapy for fetal hemoglobin augmentation in hemoglobin E-beta 0-thalassemia: Considerations for treatmentSylvia T Singer
Children s Hospital and Research Center at Oakland, 747 52nd St, Oakland, CA 94609, USA
Ann N Y Acad Sci 1054:250-6. 2005..After 5 years of follow-up, a subset of patients remained off transfusions. Hydroxyurea should be considered for a subset of Hb E-beta 0-thalassemia patients...
- PARVOVIRUS VECTORS FOR HUMAN GENE THERAPYArun Srivastava; Fiscal Year: 2004..The knowledge gained from these studies will be applicable in further development of AAV and parvovirus B19 vectors and their optimal use in gene therapy of beta-thalassemia and sickle-cell disease. ..
- Characterization of a alpha-globin chaperone proteinMitchell Weiss; Fiscal Year: 2006..abstract_text> ..
- Harmful effects of transfusion of older stored red cells: iron and inflammationSteven Spitalnik; Fiscal Year: 2009....
- Ferritin and Iron Nutrition in Health and DiseaseElizabeth Theil; Fiscal Year: 2005..The results will clarify mechanisms of ferritin iron uptake and characterize molecular genetic differences in iron uptake for improving dietary iron sources in health and disease. ..
- PARVOVIRUS VECTORS FOR HUMAN GENE THERAPYArun Srivastava; Fiscal Year: 2003..The knowledge gained from these studies will be applicable in further development of AAV and parvovirus B19 vectors and their optimal use in gene therapy of beta-thalassemia and sickle-cell disease. ..
- The role of hepcidin in beta-thalassemiaStefano Rivella; Fiscal Year: 2007....
- Intracelllar Pathways That Silence the Fetal Globin GeneTohru Ikuta; Fiscal Year: 2006..Furthermore, important information to develop novel Hb F inducers will be disclosed by this study. ..
- A QTL for fetal hemoglobin and F cells on chromosome 8qSwee Thein; Fiscal Year: 2003Current treatment for Sickle cell disease (SCD) and beta thalassemia is, at best, symptomatic involving blood transfusions, the use of drugs to remove iron and to control pain, and in cases with HLA-compatible siblings, bone marrow ..
- The influence of genotype on the outcome of gene transfer in beta-thalassemiaStefano Rivella; Fiscal Year: 2010..With this model, based on the genotype and analysis of the mRNA stability, we aim to predict the potential success of gene therapy given a specific mutation. ..
- Cell Therapies for Cooley's AnemiaThomas Ryan; Fiscal Year: 2006Cooley's anemia (CA) will be cured in an animal model of beta thalassemia major by therapeutic cloning, genome modification, and replacement cell therapy Therapeutic cloning will be used to derive primary beta/0 thalassemic embryonic stem ..
- Cyclic Nucleotides and Fetal Globin Gene ExpressionTohru Ikuta; Fiscal Year: 2004....
- GLOBIN GENE REGULATION DURING ERYTHROID DIFFERENTIATIONGORDON GINDER; Fiscal Year: 2004..abstract_text> ..
- MR of Heart Iron: T2*/T2 Calibration & ApplicationDudley Pennell; Fiscal Year: 2006..These centers are Philadelphia (USA), Cagliari (Italy), Athens (Greece), Nicosia (Cyprus), Mumbai (India) and Singapore. ..
- Nonsense codon activation of endonuclease-mediated mRNA decayDaniel R Schoenberg; Fiscal Year: 2010..This research seeks to understand how these defective gene products are destroyed and how this information might be used to develop new treatments for this debilitating disease. ..
- E/BETA THALASSEMIA--NATURAL HISTORY & RESPONSE TO CHEMOElliott Vichinsky; Fiscal Year: 2002..In summary, if this study is successful, it will change the approach to Hb E/B worldwide and result in improved quality of life and decreased mortality. (End of Abstract) ..