beta thalassemia

Summary

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.

Top Publications

  1. ncbi Alpha and beta thalassemia
    Herbert L Muncie
    Louisiana State University Health Sciences Center, New Orleans, Louisiana 70112, USA
    Am Fam Physician 80:339-44. 2009
  2. ncbi Cardiovascular T2-star (T2*) magnetic resonance for the early diagnosis of myocardial iron overload
    L J Anderson
    Cardiovascular MR Unit, Royal Brompton Hospital, London, UK
    Eur Heart J 22:2171-9. 2001
  3. pmc Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia
    Manuela Uda
    Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Cittadella Universitaria di Monserrato, Monserrato, Cagliari, Italy
    Proc Natl Acad Sci U S A 105:1620-5. 2008
  4. ncbi Hepatic iron concentration and total body iron stores in thalassemia major
    E Angelucci
    Unità Operativa Ematologia e Centro Trapianto Midollo Osseo di Muraglia, Azienda Ospedale di Pesaro, Italy
    N Engl J Med 343:327-31. 2000
  5. pmc The prevalence and spectrum of alpha and beta thalassaemia in Guangdong Province: implications for the future health burden and population screening
    X M Xu
    Department of Medical Genetics, First Military Medical University, Guangzhou 510515, Guangdong, PR China
    J Clin Pathol 57:517-22. 2004
  6. ncbi A single breath-hold multiecho T2* cardiovascular magnetic resonance technique for diagnosis of myocardial iron overload
    Mark Westwood
    Cardiovascular MR Unit, Royal Brompton Hospital and Imperial College, London, UK
    J Magn Reson Imaging 18:33-9. 2003
  7. pmc BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobinopathies
    Amanda E Sedgewick
    Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts 02118, USA
    Blood Cells Mol Dis 41:255-8. 2008
  8. ncbi An abundant erythroid protein that stabilizes free alpha-haemoglobin
    Anthony 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
  9. ncbi Genetic modifiers of beta-thalassemia
    Swee 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
  10. ncbi A comparison of magnetic resonance imaging and cardiac biopsy in the evaluation of heart iron overload in patients with beta-thalassemia major
    Sophie I Mavrogeni
    Onassis Cardiac Surgery Center, Athens, Greece
    Eur J Haematol 75:241-7. 2005

Detail Information

Publications303 found, 100 shown here

  1. ncbi Alpha and beta thalassemia
    Herbert 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...
  2. ncbi Cardiovascular T2-star (T2*) magnetic resonance for the early diagnosis of myocardial iron overload
    L 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...
  3. pmc Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia
    Manuela Uda
    Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Cittadella Universitaria di Monserrato, Monserrato, Cagliari, Italy
    Proc Natl Acad Sci U S A 105:1620-5. 2008
    ..We expect our findings will help to characterize the molecular mechanisms of fetal globin regulation and could eventually contribute to the development of new therapeutic approaches for beta-thalassemia and sickle cell anemia...
  4. ncbi Hepatic iron concentration and total body iron stores in thalassemia major
    E Angelucci
    Unità Operativa Ematologia e Centro Trapianto Midollo Osseo di Muraglia, Azienda Ospedale di Pesaro, Italy
    N Engl J Med 343:327-31. 2000
    ....
  5. pmc The prevalence and spectrum of alpha and beta thalassaemia in Guangdong Province: implications for the future health burden and population screening
    X 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...
  6. ncbi A single breath-hold multiecho T2* cardiovascular magnetic resonance technique for diagnosis of myocardial iron overload
    Mark 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...
  7. pmc BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobinopathies
    Amanda 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...
  8. ncbi An abundant erythroid protein that stabilizes free alpha-haemoglobin
    Anthony 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...
  9. ncbi Genetic modifiers of beta-thalassemia
    Swee 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...
  10. ncbi A comparison of magnetic resonance imaging and cardiac biopsy in the evaluation of heart iron overload in patients with beta-thalassemia major
    Sophie I Mavrogeni
    Onassis Cardiac Surgery Center, Athens, Greece
    Eur J Haematol 75:241-7. 2005
    ..To apply magnetic resonance imaging (MRI) for the assessment of myocardial iron deposition in patients with beta-thalassemia and compare the results with cardiac biopsy data...
  11. ncbi Hemoglobin E-beta thalassemia: factors affecting phenotype
    I 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...
  12. ncbi Genetic modifiers of the beta-haemoglobinopathies
    Swee 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...
  13. ncbi Magnetic resonance evaluation of liver and myocardial iron deposition in thalassemia intermedia and b-thalassemia major
    Sophie 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...
  14. ncbi Clinical manifestation of beta-thalassemia/hemoglobin E disease
    S 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...
  15. ncbi Normalisation of total body iron load with very intensive combined chelation reverses cardiac and endocrine complications of thalassaemia major
    Kallistheni 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...
  16. ncbi Relationship between genotype and phenotype. Thalassemia intermedia
    R 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...
  17. pmc Multi-center transferability of a breath-hold T2 technique for myocardial iron assessment
    Taigang He
    National Heart and Lung Institute, Imperial College London, UK
    J Cardiovasc Magn Reson 10:11. 2008
    ..This cardiac T2 technique has good interstudy reproducibility, but its transferability to different centres has not yet been investigated...
  18. ncbi Cardiac related death in thalassaemia major: time trend and risk factors in a large Greek Unit
    Giorgos 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...
  19. ncbi Cord blood stem cell transplantation for haemoglobinopathies
    Fernando 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...
  20. ncbi Prevention of homozygous beta thalassemia by premarital screening and prenatal diagnosis in India
    Parag M Tamhankar
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226014, India
    Prenat Diagn 29:83-8. 2009
    To determine the feasibility and acceptability of premarital screening for beta thalassemia/related hemoglobinopathies followed by prenatal diagnosis in India.
  21. ncbi Studies in haemoglobin E beta-thalassaemia
    Nancy 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...
  22. ncbi Risk factors for death in patients with beta-thalassemia major: results of a case-control study
    Adriana 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...
  23. ncbi Right ventricular diastolic function in beta-thalassemia major: echocardiographic and clinical correlates
    G Hahalis
    Divisions of Cardiology and Hematology, Department of Internal Medicine, Patras University Medical School, Rio, Patras, Greece
    Am Heart J 141:428-34. 2001
    ..Short DT of early tricuspid inflow carries important prognostic value. LV remodeling occurs over time along with transition toward a restrictive ventricular filling pattern...
  24. ncbi Modification of CYP2E1 and CYP3A4 activities in haemoglobin E-beta thalassemia patients
    Nuntiya 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...
  25. ncbi Value of sequential monitoring of left ventricular ejection fraction in the management of thalassemia major
    Bernard A Davis
    Department of Haematology, Royal Free and University College Medical School, and Department of Research and Development, University College London Hospitals, United Kingdom
    Blood 104:263-9. 2004
    ..Sequential quantitative monitoring of LVEF is valuable for assessing cardiac risk and for identifying patients with thalassemia major who require intensified chelation therapy...
  26. ncbi Assessment of iron stores in children with transfusion siderosis by biomagnetic liver susceptometry
    R Fischer
    Abteilung Medizinische Biochemie, University Hospital Eppendorf, Hamburg, Germany
    Am J Hematol 60:289-99. 1999
    ..The exponential decline of iron stores allows forecast of steady-state conditions of the final iron load for a particular transfusion and chelation therapy regimen...
  27. pmc Improved survival of thalassaemia major in the UK and relation to T2* cardiovascular magnetic resonance
    Bernadette 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)...
  28. ncbi Beta-thalassemia
    Deborah Rund
    Hematology Department, Hebrew University Hadassah Medical Center, Ein Kerem, Jerusalem, Israel
    N Engl J Med 353:1135-46. 2005
  29. ncbi First observation of homozygous hemoglobin hamadan (B 56 (D7) GLY-ARG) and beta thalassemia (-29 G>A)- hemoglobin Hamadan combination in a Turkish family
    Ece Akar
    Pediatric Molecular Genetics Department, Ankara University, Ankara, Turkey
    Am J Hematol 74:280-2. 2003
    During screening surveys for beta thalassemia and abnormal hemoglobins in Mugla, a city located in the Aegean Region of Turkey, a hemoglobin variant was detected in two large families residing in two neigboring cities (i.e...
  30. ncbi Serum carnitine levels in patients with homozygous beta thalassemia: a possible new role for carnitine?
    Vasileios Tsagris
    3rd Department of Paediatrics, Attikon University Hospital, University of Athens, Athens, Greece
    Eur J Pediatr 164:131-4. 2005
    ..In the present study, serum carnitine levels were measured in 45 children and 20 adults with homozygous beta thalassemia. A decrease in serum carnitine levels (total, free and acyl) was found, without any evidence of disorder in ..
  31. ncbi Glutathione S-transferase gene deletions and their effect on iron status in HbE/beta thalassemia patients
    Vineeta 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. 2010
    Iron overload and oxidative stress are main pathophysiological features of HbE/beta thalassemia patients...
  32. ncbi 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 transplantation
    Vikram 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...
  33. ncbi Augmentation of left atrial contractile function: a herald of iron overload in patients with beta thalassemia major
    Reza Shabanian
    Department of Pediatric Cardiology, Children s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
    Pediatr Cardiol 31:680-8. 2010
    Early 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...
  34. ncbi Molecular diagnosis and carrier screening for beta thalassemia
    A 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 ..
  35. pmc Combined chelation therapy in thalassemia major for the treatment of severe myocardial siderosis with left ventricular dysfunction
    Mark 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...
  36. ncbi Unpredictability of intravenous busulfan pharmacokinetics in children undergoing hematopoietic stem cell transplantation for advanced beta thalassemia: limited toxicity with a dose-adjustment policy
    Robert 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...
  37. ncbi 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 transplantation
    M 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...
  38. ncbi Detection of responsible mutations for beta thalassemia in the Kermanshah Province of Iran using PCR-based techniques
    Zohreh Rahimi
    Medical Biology Research Center, Medical School, Kermanshah University of Medical Sciences, Kermanshah, Iran
    Mol Biol Rep 37:149-54. 2010
    b>Beta Thalassemia has been reported to be a common genetic disorder in Iran...
  39. ncbi Cellular immune reconstitution and its impact on clinical outcome in children with beta thalassemia major undergoing a matched related myeloablative allogeneic bone marrow transplant
    Reena Rajasekar
    Department of Haematology, Christian Medical College, Vellore, India
    Biol Blood Marrow Transplant 15:597-609. 2009
    We 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)...
  40. ncbi Endothelial dysfunction and oxidant status in pediatric patients with hemoglobin E-beta thalassemia
    Veerapol 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 ..
  41. ncbi Long-term efficacy of oral deferiprone in management of iron overload in beta thalassemia major
    Himanshu 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...
  42. ncbi Tissue Doppler echocardiography reliably reflects severity of iron overload in pediatric patients with beta thalassemia
    Suchaya Silvilairat
    Division of Pediatric Cardiology, Chiang Mai University, Chiang Mai, Thailand
    Eur J Echocardiogr 9:368-72. 2008
    Tissue 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...
  43. ncbi Growth hormone reserve in adult beta thalassemia patients
    Guy 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...
  44. ncbi Response to hydroxyurea in beta thalassemia major and intermedia: experience in western India
    Khushnooma Y Italia
    National Institute of Immunohaematology, 13th Floor, K E M Hospital Campus, Parel, Mumbai 400 012, India
    Clin Chim Acta 407:10-5. 2009
    The clinical and hematological response to hydroxyurea was evaluated in beta thalassemia patients in western India with variable clinical severity and correlated with genetic factors.
  45. ncbi Iron overload and iron-chelating therapy in hemoglobin E-beta thalassemia
    N F Olivieri
    Department of Medicine, University of Toronto, Canada
    J Pediatr Hematol Oncol 22:593-7. 2000
    Whereas hemoglobin (Hb) E-beta thalassemia is recognized as probably the most common serious hemoglobinopathy worldwide, its natural history remains poorly defined...
  46. ncbi Italian Society of Hematology practice guidelines for the management of iron overload in thalassemia major and related disorders
    Emanuele Angelucci
    Hematology Department and BMT Unit, Cancer Center Armando Businco, viale Edward Jenner, 09121 Cagliari, Italy
    Haematologica 93:741-52. 2008
    ....
  47. ncbi Liver iron concentrations and urinary hepcidin in beta-thalassemia
    Raffaella 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...
  48. pmc Cardiac T2* magnetic resonance for prediction of cardiac complications in thalassemia major
    P 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...
  49. ncbi Thalassemia heart disease: a comparative evaluation of thalassemia major and thalassemia intermedia
    Athanasios Aessopos
    First Department of Internal Medicine, University of Athens Medical School, Laiko General Hospital, Athens, Greece
    Chest 127:1523-30. 2005
    ..Heart disease represents the main determinant of survival in beta-thalassemia, but its particular features in the two clinical forms of the disease, thalassemia major (TM) and thalassemia intermedia (TI), are not completely clarified...
  50. ncbi Rapid screening of multiple beta-globin gene mutations by real-time PCR on the LightCycler: application to carrier screening and prenatal diagnosis of thalassemia syndromes
    Christina 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...
  51. ncbi Current trends in the management of beta thalassemia
    A P Dubey
    Department of Pediatrics, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India
    Indian J Pediatr 75:739-43. 2008
    The management of Beta Thalassemia, the commonest form of hemolytic anemia in children, has changed significantly in the last few years...
  52. ncbi Multislice multiecho T2* cardiovascular magnetic resonance for detection of the heterogeneous distribution of myocardial iron overload
    Alessia 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...
  53. ncbi Evaluation of alpha hemoglobin stabilizing protein (AHSP) as a genetic modifier in patients with beta thalassemia
    Vip Viprakasit
    Department of Pediatrics and Siriraj Thalassemia Research Program, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand
    Blood 103:3296-9. 2004
    Although 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 ..
  54. pmc Relative response of patients with myelodysplastic syndromes and other transfusion-dependent anaemias to deferasirox (ICL670): a 1-yr prospective study
    John Porter
    University College London, London, UK
    Eur J Haematol 80:168-76. 2008
    ..Dosage was determined by baseline liver iron concentration (LIC)...
  55. ncbi Elastic tissue abnormalities resembling pseudoxanthoma elasticum in beta thalassemia and the sickling syndromes
    Athanasios 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...
  56. ncbi 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 resonance
    M 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...
  57. ncbi A scoring system for the classification of beta-thalassemia/Hb E disease severity
    Orapan 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...
  58. pmc Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification
    C 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...
  59. ncbi Case control study of psychosocial morbidity in beta thalassemia major
    Arun Saini
    Department of Pediatrics, Lady Hardinge Medical College, New Delhi, India
    J Pediatr 150:516-20. 2007
    To assess the prevalence and the spectrum of psychosocial morbidity and its correlation with various social and disease-related factors in children with beta thalassemia major.
  60. ncbi Normalized left ventricular volumes and function in thalassemia major patients with normal myocardial iron
    Mark A Westwood
    Cardiovascular MR Unit, Royal Brompton Hospital and Imperial College, London, United Kingdom
    J Magn Reson Imaging 25:1147-51. 2007
    ..To determine the reference range in thalassemia major (TM) for left ventricular (LV) function...
  61. ncbi Correlation of echocardiography parameters with cardiac magnetic resonance imaging in transfusion-dependent thalassaemia major
    Athanassios Aessopos
    First Department of Medicine, University of Athens, Laiko General Hospital, Athens, Greece
    Eur J Haematol 78:58-65. 2007
    ..CMR accessibility is limited, whereas echocardiography (Echo) is relatively inexpensive and readily available. The objective was to find Echo parameters that may be useful for predicting cardiac Fe...
  62. ncbi Platelet transfusion refractoriness in highly immunized beta thalassemia children undergoing stem cell transplantation
    Sarah 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 ..
  63. ncbi Pulmonary hypertension in patients with sickle cell/beta thalassemia: incidence and correlation with serum N-terminal pro-brain natriuretic peptide concentrations
    Ersi 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...
  64. ncbi Effect of transfusional iron intake on response to chelation therapy in beta-thalassemia major
    Alan R Cohen
    Children s Hospital of Philadelphia, PA 19104 4399, USA
    Blood 111:583-7. 2008
    ..This study is registered at http://clinicaltrials.gov as NCT00061750...
  65. ncbi The pancreas in beta-thalassemia major: MR imaging features and correlation with iron stores and glucose disturbances
    Olympia 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...
  66. ncbi Predictive echo-Doppler indices of left ventricular impairment in B-thalassemic patients
    Athanassios Aessopos
    First Dept of Internal Medicine, University of Athens Medical School, Laiko Hospital, Ag Thoma 17, 11527 Athens, Greece
    Ann Hematol 86:429-34. 2007
    ..These parameters could be used as heart-dysfunction predictors with relatively good sensitivity and specificity...
  67. ncbi Reliability of red blood cell indices and formulas to discriminate between beta thalassemia trait and iron deficiency in children
    M Ferrara
    Department of Pediatrics, The Second University of Naples, Via De Crecchio no 4, Naples 80138, Italy
    Hematology 15:112-5. 2010
    Iron deficiency (ID) and beta thalassemia trait (betaTT) are the most common causes of hypochromia and microcytosis...
  68. ncbi MRI for the determination of pituitary iron overload in children and young adults with beta-thalassaemia major
    Athanasios Christoforidis
    Thalassaemia Unit, Hippokration Hospital, 49 Konstantinoupoleos Str, 54642 Thessaloniki, Greece
    Eur J Radiol 62:138-42. 2007
    ..In conclusion, pituitary MRI indices as measured on T2*-weighted images seem to reflect pituitary iron overload and could, therefore, be used for a preclinical detection of patients who are in greater danger of developing hypogonadism...
  69. ncbi Cardiac status in well-treated patients with thalassemia major
    Athanasios Aessopos
    Cardiac Outpatient Clinic for Hemoglobinopathies, First Department of Internal Medicine, University of Athens Medical School, Laiko Hospital, Athens, Greece
    Eur J Haematol 73:359-66. 2004
    ....
  70. ncbi Comparison of effects of oral deferiprone and subcutaneous desferrioxamine on myocardial iron concentrations and ventricular function in beta-thalassaemia
    Lisa J Anderson
    Cardiovascular Magnetic Resonance Unit, Royal Brompton Hospital, London SW3 6NP, UK
    Lancet 360:516-20. 2002
    ..The only alternative treatment is oral deferiprone, but its long-term efficacy on myocardial iron concentrations is unknown...
  71. ncbi Four-year evaluation of myocardial and liver iron assessed prospectively with serial MRI scans in young patients with beta-thalassaemia major: comparison between different chelation regimens
    Athanasios Christoforidis
    Thalassaemia Unit, 1st Paediatric Department, Hippokration Hospital, Thessaloniki, Greece christoforidis2doctors org uk
    Eur J Haematol 78:52-7. 2007
    ....
  72. ncbi Survival and complications in thalassemia
    C 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...
  73. pmc MRI detects myocardial iron in the human heart
    Nilesh R Ghugre
    Division of Cardiology, Children s Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, California 90027 0034, USA
    Magn Reson Med 56:681-6. 2006
    ..These data, along with measurements from controls, provide bounds on MRI-iron calibration curves in human heart and further support the clinical use of cardiac MRI in iron-overload syndromes...
  74. ncbi Liver fibrosis and iron levels during long-term deferiprone treatment of thalassemia major patients
    Shu 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...
  75. ncbi Hydroxyurea can eliminate transfusion requirements in children with severe beta-thalassemia
    Mohamed Bradai
    Service d Hematologie, Hôpital Franz Fanon, Blida, Algeria
    Blood 102:1529-30. 2003
    ..We conclude that HU can eliminate transfusional needs in children with beta-thalassemia major, which could be particularly useful in countries such as Algeria, where supplies of blood or chelating agents are limited...
  76. ncbi Longitudinal study of survival and causes of death in patients with thalassemia major in Greece
    Vassilis Ladis
    Thalassemia Unit, First Department of Pediatrics, University of Athens, Athens, Greece
    Ann N Y Acad Sci 1054:445-50. 2005
    ..001). Statistically significantly different survival probabilities were found between groups with mild, moderate, or severe hemosiderosis (P < .001). Effective management with improved chelation therapy could lead to better results...
  77. ncbi Extra-medullary hematopoiesis causing bilateral optic atrophy in beta thalassemia/Hb E disease
    Nimitr Ittipunkul
    Department of Ophthalmology, Faculty of Medicine, Chiang Mai University, Thailand
    J Med Assoc Thai 90:809-12. 2007
    To report a rare presentation of bilateral optic nerve compression from extra-medullary hematopoiesis in beta thalassemia/Hb E disease.
  78. ncbi Use of strain and tissue velocity imaging for early detection of regional myocardial dysfunction in patients with beta thalassemia
    Amal M Hamdy
    Cardiology Department, Al Zahraa University Hospital, Al Azhar University, Cairo, Egypt
    Eur J Echocardiogr 8:102-9. 2007
    Iron 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...
  79. ncbi Correlative study of iron accumulation in liver, myocardium, and pituitary assessed with MRI in young thalassemic patients
    Athanasios Christoforidis
    Thalassaemia Unit, 1st Paediatric Department, Aristotle University of Thessaloniki, Papageorgiou General Hospital, Thessaloniki
    J Pediatr Hematol Oncol 28:311-5. 2006
    ..Regular scanning, to recognize preclinically excessive iron deposits and intensified chelation therapy, can prevent serious and fatal complications...
  80. ncbi Molecular characterization and PCR detection of a deletional HPFH: application to rapid prenatal diagnosis for compound heterozygotes of this defect with beta-thalassemia in a Chinese family
    X M Xu
    Department of Cellular Biology and Medical Genetics, First Military Medical University, Guangzhou, Peoples Republic of China
    Am J Hematol 65:183-8. 2000
    ..The fetal genomic DNA diagnosis showed the same results as those in propositus, i.e., both of them inherited the deletion from their mother and inherited a codons 14-15 (+G) frameshift mutation causing beta-thalassemia from their father...
  81. ncbi 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 major
    William Sievert
    Monash University Department of Medicine, Monash Medical Centre, Melbourne, Australia
    Am J Gastroenterol 97:982-7. 2002
    Transfusion-acquired chronic hepatitis C infection and systemic iron overload are common in patients with beta thalassemia major...
  82. ncbi Early markers of renal dysfunction in patients with beta-thalassemia major
    Masoumeh 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...
  83. ncbi Successful correction of the human Cooley's anemia beta-thalassemia major phenotype using a lentiviral vector flanked by the chicken hypersensitive site 4 chromatin insulator
    Punam 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...
  84. ncbi Hematopoietic stem cell mobilization strategies for gene therapy of beta thalassemia and sickle cell disease
    Evangelia 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.
  85. ncbi 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 Hemoglobinopathies
    Aurelio 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...
  86. pmc Heme-regulated eIF2alpha kinase modifies the phenotypic severity of murine models of erythropoietic protoporphyria and beta-thalassemia
    An 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...
  87. ncbi Regional and ethnic distribution of beta thalassemia mutations and effect of consanguinity in patients referred for prenatal diagnosis
    Maimoona Hafeez
    Department of Obs Gynae, Lahore Medical and Dental College, Lahore
    J Coll Physicians Surg Pak 17:144-7. 2007
    To 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.
  88. pmc The efficacy of iron chelator regimes in reducing cardiac and hepatic iron in patients with thalassaemia major: a clinical observational study
    Vasilios 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...
  89. ncbi Renal dysfunction in patients with beta-thalassemia major receiving iron chelation therapy either with deferoxamine and deferiprone or with deferasirox
    Marina 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...
  90. ncbi Prevalence of hepatosplenomegaly in beta thalassemia minor subjects in Iran
    Mehran 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...
  91. ncbi Emerging insights in the management of hemoglobin E beta thalassemia
    Nancy F Olivieri
    Hemoglobinopathy Research Program, Toronto General Hospital, University of Toronto, Toronto, Ontario, Canada
    Ann N Y Acad Sci 1202:155-7. 2010
    Globally, hemoglobin (Hb) E beta thalassemia accounts for approximately half the severe forms of beta thalassemia...
  92. ncbi The hemoglobin E syndromes
    D 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 ..
  93. ncbi Diabetes mellitus and impaired glucose tolerance in thalassaemia major: incidence, prevalence, risk factors and survival in patients followed in the Ferrara Center
    Maria 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...
  94. ncbi R2 relaxometry with MRI for the quantification of tissue iron overload in beta-thalassemic patients
    Efthymia 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...
  95. ncbi Combined therapy with deferiprone and desferrioxamine in thalassemia major
    Raffaella Origa
    Dipartimento di Scienze Biomediche e Biotecnologie Ospedale Regionale per le Microcitemie, ASL 8, Universita degli Studi, Cagliari, Italy
    Haematologica 90:1309-14. 2005
    ....
  96. ncbi Influence of Ggamma-158C --> and beta- (AT)x(T)y globin gene polymorphisms on HbF levels in Italian beta-thalassemia carriers and wild-type subjects
    Valentina 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...
  97. ncbi Response to hydroxyurea treatment in Iranian transfusion-dependent beta-thalassemia patients
    Majid 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...
  98. ncbi Peripheral blood versus bone marrow as a source of hematopoietic stem cells for allogeneic transplantation in children with class I and II beta thalassemia major
    Ardeshir 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...
  99. ncbi Pulmonary hypertension in beta-thalassemia
    Athanasios 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
    ....
  100. ncbi Hypocalcemic heart failure in thalassemic patients
    M Tsironi
    First Department of Internal Medicine, University of Athens, Medical School, Laiko Hospital, Athens, Greece
    Int J Hematol 83:314-7. 2006
    ....
  101. ncbi Unrelated bone marrow transplantation for beta-thalassemia patients: The experience of the Italian Bone Marrow Transplant Group
    Giorgio 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...

Research Grants65

  1. PARVOVIRUS VECTORS FOR HUMAN GENE THERAPY
    Arun 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. ..
  2. Prevention of Complications in Thalassemia
    Elliott P Vichinsky; Fiscal Year: 2011
    ..Of these 140, 42% have beta thalassemia and 43% are transfusion dependent. Approximately 51% are women and 75% are of Asian descent...
  3. Understand and Improve Iron Distribution and Erythropoiesis in Beta-Thalassemia
    Yelena Ginzburg; Fiscal Year: 2013
    ..Ultimately, our goal is to provide an alternative treatment for these patients that could possibly be effective for other diseases associated with anemia and iron overload. ..
  4. New Investigation Initiatives for the Prevention of Complications of Thalassemia
    Ellis J Neufeld; Fiscal Year: 2011
    ..target populations include individuals in New England and in the Atlanta region, with transfusion-dependent beta Thalassemia (Thal), alpha Thal (homozygous and hemoglobin H disease), Thal intermedia, and related disorders...
  5. Functional analysis of mDia formins in hematopoietic stem cell engraftment and mi
    Peng Ji; Fiscal Year: 2010
    ..patients with many blood related diseases such as aplastic anemia, fanconi anemia, sickle cell anemia, beta thalassemia major, leukemia, lymphomas, multiple myeloma, and many immune deficiency disorders...
  6. Reactivation of Fetal Gamma-globin Genes for the Treatment of Beta-globin Disorde
    Osamu Tanabe; Fiscal Year: 2010
    ..abstract_text> ..
  7. Harmful effects of transfusion of older stored red cells: iron and inflammation
    Steven L Spitalnik; Fiscal Year: 2012
    ....
  8. Analysis of mDia formins in hematopoietic stem cell engraftment and migration
    Peng Ji; Fiscal Year: 2013
    ..patients with many blood related diseases such as aplastic anemia, fanconi anemia, sickle cell anemia, beta thalassemia major, leukemia, lymphomas, multiple myeloma, and many immune deficiency disorders...
  9. The influence of genotype on the outcome of gene transfer in beta-thalassemia
    Stefano Rivella; Fiscal Year: 2013
    ..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. ..
  10. Extending GWAS at the BCL11A locus to novel therapeutics for HbF induction
    Stuart H Orkin; Fiscal Year: 2010
    ..The proposed research focuses on how to interfere with the major silencer of HbF, a recently identified protein BCL11A, in an effort to develop new treatment for inherited anemias. ..
  11. STEM CELL GENE THERAPY FOR HEMOGLOBINOPATHIES
    George Stamatoyannopoulos; Fiscal Year: 2013
    ..b>Beta thalassemia and sickle cell disease are...
  12. 5-Hydroxymethylcytosine and Globin Gene Switching
    Donald Lavelle; Fiscal Year: 2013
    ....
  13. Gene therapy for Cooley's anemia in a new mouse model
    Stefano Rivella; Fiscal Year: 2010
    ....
  14. Control of iron absorption by intestinal HIF2 in iron and hematological disorders
    Yatrik M Shah; Fiscal Year: 2013
    ....
  15. in vivo Studies of Clinical Stage Globin Modulators
    SUSAN PARK PERRINE; Fiscal Year: 2011
    ..evaluate three therapeutics for a new medical use in an animal model that simulates sickle cell disease and beta thalassemia, serious blood diseases worldwide. The therapeutics are already approved for other conditions...
  16. Selective HDAC1/2 inhibitors for hemoglobinopathies
    Matthew B Jarpe; Fiscal Year: 2013
    ..A Phase II project building off of this work would further advance the molecule through development toward filing of an IND for beta hemoglobinopathies. ..
  17. NOVEL GLOBIN GENE MODULATORS
    SUSAN PARK PERRINE; Fiscal Year: 2013
    ..to determine 1) which novel therapeutics most effectively augment HbF in erythroid cells cultured from beta thalassemia patients, genotyped for 2 major subtypes of thalassemia, or patients with sickle cell disease, and the 3 ..
  18. Targeted Inhibition of NMD to Enhance the Efficacy of Readthrough Drugs
    Adrian R Krainer; Fiscal Year: 2013
    ..The proposed experiments could lead to a broadly applicable therapeutic approach that would be used in combination with readthrough drugs to treat a large number of severe genetic diseases. ..
  19. Nonsense codon activation of endonuclease-mediated mRNA decay
    Daniel R Schoenberg; Fiscal Year: 2012
    ..The long-term goal of this research is to develop new treatments for beta-thalassemia by understanding the novel mechanisms involved in beta-globin mRNA decay in erythroid cells. ..
  20. Regulation of Globin Gene Expression In Erythroid Differentiation &Development
    Gordon D Ginder; Fiscal Year: 2012
    ....
  21. Human Globin Gene Regulation During Development
    Tim M Townes; Fiscal Year: 2013
    ..3) To identify HPFH (Hereditary Persistence of Fetal Hemoglobin) individuals who have mutations/variations in the FOKLF1 gene. ..
  22. The Role of Mi2/NuRD Complex on the Expression of Human Gamma-Globin Gene
    MARIA LAURA AMAYA; Fiscal Year: 2013
    ..This project has clinical significance for patients with hemoglobinopathies (e.g., sickle cell anemia and beta thalassemia), where induction of ?-globin expression has a therapeutic effect...
  23. Molecular and Biological Activities of Alpha Hemoglobin Stabilizing Protein
    Mitchell J Weiss; Fiscal Year: 2012
    ..excess alpha globin that accumulates during normal erythropoiesis and in various anemias, particularly beta thalassemia. Second, to fold and stabilize newly formed alpha globin subunits en route to HbA (alpha beta) synthesis...
  24. Structure and Function of Stability-Enhanced Beta-Globin mRNAs
    OSHEIZA Y ABDULMALIK; Fiscal Year: 2013
    ..I. to establish himself as a successful and productive independently funded researcher. ..
  25. Ferritin and Iron Nutrition in Health and Disease
    Elizabeth 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. ..
  26. Anaerobically stored red blood cells with extended shelf-life
    Tatsuro Yoshida; Fiscal Year: 2010
    ..g., sickle cell disease or beta-thalassemia). Extended shelf life will improve the logistics of general blood bank operations, alleviate the periodic blood shortages, and increase the utility of pre-operative autologous blood donation. ..
  27. Intracelllar Pathways That Silence the Fetal Globin Gene
    Tohru Ikuta; Fiscal Year: 2006
    ..Furthermore, important information to develop novel Hb F inducers will be disclosed by this study. ..
  28. A QTL for fetal hemoglobin and F cells on chromosome 8q
    Swee Thein; Fiscal Year: 2003
    Current 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 ..
  29. PARVOVIRUS VECTORS FOR HUMAN GENE THERAPY
    Arun Srivastava; Fiscal Year: 2002
    ..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. ..
  30. Cyclic Nucleotides and Fetal Globin Gene Expression
    Tohru Ikuta; Fiscal Year: 2004
    ....
  31. MR of Heart Iron: T2*/T2 Calibration & Application
    Dudley Pennell; Fiscal Year: 2006
    ..These centers are Philadelphia (USA), Cagliari (Italy), Athens (Greece), Nicosia (Cyprus), Mumbai (India) and Singapore. ..
  32. Induction of HbF by Prolyl Hydroxylase Inhibitors
    Stephen Klaus; Fiscal Year: 2004
    ..Ultimately, this will enable identification of an HbF-inducing compound that can be tested alone or in combination with HU to mitigate the pathophysiology associated with SCD and other beta-hemoglobinopathies. ..
  33. E/BETA THALASSEMIA--NATURAL HISTORY & RESPONSE TO CHEMO
    Elliott 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) ..
  34. REPRESSORS OF HUMAN AND GLOBIN GENE EXPRESSION
    Deborah Gumucio; Fiscal Year: 2001
    ..of gamma could suggest strategies to reactivate this gene in individuals with severe hemoglobinopathies (beta thalassemia and sickle cell anemia)...
  35. MOLECULAR PEDIATRICS AND CHILD HEALTH
    Frederick Suchy; Fiscal Year: 2002
    ....
  36. ANTI-GAL IGG ON HUMAN RED CELLS: A MODEL FOR CELL AGING
    Uri Galili; Fiscal Year: 1993
    ....
  37. MUTATIONAL HOT SPOTS AND DEAMINATION OF 5 METHYLCYTOSINE
    ASHOK BHAGWAT; Fiscal Year: 1999
    ..Together these studies should help one evaluate the role of cytosine methyltransferases in creating C to T mutations and the relative merits of competing hypotheses regarding the mechanism of mutations at sites of cytosine methylation. ..
  38. FERRIC ION SEQUESTERING AGENTS--IRON REMOVAL
    Kenneth Raymond; Fiscal Year: 1999
    ..Preliminary toxicity studies will be carried out in collaboration with Dr. P. Durbin. Screening for iron removal will be carried out for the most promising compounds in collaboration with Dr. R. Bergeron. ..
  39. ORAL AGENTS TO INDUCE FETAL HEMOGLOBIN
    DOUGLAS FALLER; Fiscal Year: 1999
    ..PROPOSED COMMERCIAL APPLICATION: An oral therapeutic which will ameliorate the clinical symptoms of sickle cell anemia and the anemia of beta thalassemia.
  40. HEMATOLOGICAL DIAGNOSIS OF B THALASSEMIA MUTATIONS
    Pranee Sutcharitchan; Fiscal Year: 1993
    b>Beta thalassemia, the most common disease inherited at a single genetic locus, is a major cause of morbidity and mortality in populations having high frequencies of the beta-thalassemia mutations...
  41. Genetic Modulation of HbF in Beta Thalassemia
    David Chui; Fiscal Year: 2009
    ..The results of this investigation will prepare us to understand the function of potentially important genes for HbF regulation, develop prognostic guidelines and identify new therapeutic targets. ..
  42. FETAL HB GENE FOR SICKLE CELL AND BETA-THALASSEMIA
    John Haley; Fiscal Year: 1993
    ....
  43. MIXED CHIMERISM IN THE HEMOGLOBINOPATHIES
    C Anthony Blau; Fiscal Year: 2002
    ..two tools that may be of value in establishing stable mixed chimerism of patients with sickle cell anemia and beta thalassemia. The first tool is directed toward developing a minimally toxic method for producing stem cell depletion ..
  44. THERAPEUTIC MULTIDENTATE IRON SEQUESTERING AGENTS
    Kenneth Raymond; Fiscal Year: 2007
    ..Several new ligand types are proposed with specific hypotheses about structural function relationships. [unreadable] [unreadable]..
  45. HbF Induction by Prolyl Hydroxylase Inhibitors in Non-human Primates
    Stephen Klaus; Fiscal Year: 2007
    ..The ability to activate the HbF expression program by PHI may prove to be a powerful approach in the therapeutic treatment of SCD and beta-hemoglobinopathies. ..
  46. Zinc and Bone Metabolism in Thalassemia
    Ellen Fung; Fiscal Year: 2009
    ....
  47. BETA-THALASSEMIA SCREENING AND GENETIC COUNSELING
    Peter Rowley; Fiscal Year: 1980
    ..2. To determine which features of the counselee or counseling strategy predispose to optimal results in 1a, 1b, or 1c. 3. To provide an empirical basis for cost-benefit analysis with regard to counseling method in mass screening. ..
  48. Lentiviral vectors for gene therapy for beta-thalassemia
    Punam Malik; Fiscal Year: 2006
    ..Together, these aims comprise a focussed research program to produce therapeutic and sustained levels of B-globin in human thalassemia RBCs, and form the basis for future preclinical studies. ..
  49. Oral Therapeutic for Inducing Fetal Hemoglobin
    DOUGLAS FALLER; Fiscal Year: 2003
    ..Upon completion of preclinical studies, Investigational New Drug status will be obtained and the new therapeutic agent will be tested in human clinical trials. ..
  50. Oral Therapeutic for Beta-Thalassemia
    DOUGLAS FALLER; Fiscal Year: 2003
    ..S. The beta thalassemia syndromes are characterized by excess alpha globin chains, which are toxic to the developing red blood cell ..
  51. IMMUNOBIOLOGY OF BONE MARROW TRANSPLANTATION
    SUSAN WIEDMEIER; Fiscal Year: 1992
    ..These studies may provide insight into the mechanisms responsible for the long-term deficits in immune function observed following TBI...
  52. Regulation of the murine Beta-globin locus
    Steven Fiering; Fiscal Year: 2006
    ..unreadable] [unreadable]..
  53. IRON CHELATION--COMBINATION THERAPY, A BETTER APPROACH
    ROBERT GRADY; Fiscal Year: 2006
    ..If both drugs can be given orally, there is truly a good chance of finding a suitable alternative to DFO. We will further explore this hypothesis using both the hypertransfused rat model of iron overload and clinical studies. ..
  54. STUDIES OF HEMOGLOBIN ABNORMALITIES
    Y Zeng; Fiscal Year: 1991
    ..6. Analyses of abnormal hemoglobins will continue but will be limited mainly to pathological variants...
  55. PNA-based strategies to reverse gamma-globin gene silencing*
    JAMES BIEKER; Fiscal Year: 2006
    ..abstract_text> ..
  56. IN UTERO TRANSPLANTATION IN BETA-THALASSEMIA
    David Archer; Fiscal Year: 2001
    ....
  57. Genomewide search for modifiers of severity in beta-tha*
    Andreas Braun; Fiscal Year: 2004
    ..To our knowledge, using 100,000 gene-based SNPs, this will be the largest genomewide association study ever undertaken in an attempt to identify disease susceptibility or protective alleles. ..
  58. Molecular Pathophysiology of HbE Diseases
    RHODA HIRSCH; Fiscal Year: 2005
    ..abstract_text> ..
  59. Outcome Modifying Genes in Sickle Cell Disease
    Marilyn Telen; Fiscal Year: 2005
    ..We will0 enroll 1000 patients with Hb SS and Hb S-beta thalassemia being followed at three regional institutions (Duke University Medical Center, University of North Carolina ..
  60. Role of LBP-1a and p14 NF-E4 in gamma globin gene expre*
    STEPHEN JANE; Fiscal Year: 2004
    ..Finally, through protein interaction studies they may identify additional novel factors important in the activation (or repression) of gamma-globin gene expression. ..
  61. NOVEL PEPTIDE INDUCERS OF GAMMA GLOBIN EXPRESSION
    RICHARD SWANK; Fiscal Year: 2000
    Sickle cell anemia and homozygous beta thalassemia are diseases that both result from dysfunction of the beta globin gene...
  62. PROTEIN TARGETS OF PHARMACOLOGIC HBF INDUCERS
    John Haley; Fiscal Year: 1999
    ..S. has been estimated to be approximately S60,000 per year and thalassemia to be approximately $ 100,900 per year. The number sickle cell, beta and alpha thalassemia patients in emerging economies world wide is large. ..
  63. Molecular basis of human gamma-globin gene activation.
    FRANKLIN GROSVELD; Fiscal Year: 2006
    ..The other is a functional assay to obtain single chain antibodies that switch on the gamma globin genes in the adult stage. ..
  64. MOLECULAR REGULATION OF EMBRYONIC GLOBIN GENE EXPRESSION
    Jane Little; Fiscal Year: 2000
    ....
  65. Beta Globin Gene Regulation and Beta Thalassemia Disease
    Brian Lewis; Fiscal Year: 2003
    ..This work will make important and novel contribution to our understanding of tissue-specific regulation, core promoter, and downstream element function, and promoter activity in a chromatin context. ..