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 Complications of beta-thalassemia major in North America
    Melody J Cunningham
    Children s Hospital, Dana Farber Cancer Institute and Harvard Medical School, Boston, MA 02115, USA
    Blood 104:34-9. 2004
  2. 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
  3. 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
  4. 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
  5. 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
  6. doi 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
  7. doi 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
  8. 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
  9. 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
  10. 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

Detail Information

Publications279 found, 100 shown here

  1. ncbi Complications of beta-thalassemia major in North America
    Melody 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...
  2. 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...
  3. 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...
  4. 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
    ..Background: Myocardial iron accumulation is the main cause for cardiac complications in beta-thalassemia...
  5. 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...
  6. doi 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 ..
  7. doi 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...
  8. 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...
  9. 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...
  10. 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)...
  11. doi 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...
  12. 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...
  13. 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...
  14. doi 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...
  15. doi 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...
  16. doi 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...
  17. 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...
  18. doi 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.
  19. doi 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...
  20. doi 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...
  21. doi 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...
  22. 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...
  23. 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...
  24. 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...
  25. 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 ..
  26. 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...
  27. doi 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...
  28. doi 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...
  29. doi 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)...
  30. doi 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...
  31. 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...
  32. 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 ..
  33. 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...
  34. 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...
  35. 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...
  36. 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...
  37. doi 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.
  38. 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...
  39. doi 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
    ....
  40. doi 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...
  41. 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...
  42. 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...
  43. 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...
  44. 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...
  45. 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 ..
  46. doi 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...
  47. 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)...
  48. doi 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...
  49. 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...
  50. 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...
  51. 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...
  52. doi 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...
  53. 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...
  54. 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...
  55. doi 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...
  56. 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.
  57. doi 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.
  58. 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...
  59. 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...
  60. doi 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...
  61. 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 ..
  62. doi 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...
  63. 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...
  64. 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
    ....
  65. ncbi Magnetic resonance imaging in the evaluation of iron overload in patients with beta thalassaemia and sickle cell disease
    Ersi Voskaridou
    Thalassaemia Centre, Laikon General Hospital, 16 Sevastoupoleos Street, GR 11526 Athens, Greece
    Br J Haematol 126:736-42. 2004
    ....
  66. 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...
  67. ncbi Liver iron concentration and fibrosis in a cohort of transfusion-dependent patients on long-term desferrioxamine therapy
    Vasili 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...
  68. doi 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...
  69. 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...
  70. 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...
  71. 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...
  72. ncbi 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 overload
    Antonio 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...
  73. 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
    ....
  74. 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
    ....
  75. ncbi The survival analysis of beta thalassemia major patients in South East of Iran
    Masoud 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...
  76. 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...
  77. doi Association of SNP in exon 1 of HBS1L with hemoglobin F level in beta0-thalassemia/hemoglobin E
    Riyaz 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
    ....
  78. 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...
  79. 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...
  80. ncbi Pituitary gland height evaluated by MR in patients with beta-thalassemia major: a marker of pituitary gland function
    M 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...
  81. ncbi A novel mechanism for thalassaemia intermedia
    C Badens
    Lancet 359:132-3. 2002
    ..Thus, loss of heterozygosity can be a cause of non-malignant genetic disease...
  82. ncbi Right ventricular cardiomyopathy in beta-thalassaemia major
    G 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...
  83. ncbi Pathogenetic aspects of immune deficiency associated with beta-thalassemia
    Dimitrios 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...
  84. ncbi Heart failure in beta thalassemia: a 5-year follow-up study
    D T Kremastinos
    2nd Department of Cardiology, Onassis Cardiac Surgery Center, Athens, Greece
    Am J Med 111:349-54. 2001
    PURPOSE: To evaluate the survival of patients with beta thalassemia and heart failure who were treated with iron chelation therapy...
  85. 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
    ....
  86. ncbi Fetal HLA typing in beta thalassaemia: implications for haemopoietic stem-cell transplantation
    Maria 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...
  87. ncbi [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...
  88. 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...
  89. ncbi Combined therapy with desferrioxamine and deferiprone in thalassemic patients: effect on urinary iron excretion
    Antonis Kattamis
    Haematologica 88:1423-5. 2003
  90. ncbi Interscanner reproducibility of cardiovascular magnetic resonance T2* measurements of tissue iron in thalassemia
    Mark 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...
  91. ncbi Cholelithiasis and Gilbert's syndrome in homozygous beta-thalassaemia
    R 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...
  92. ncbi Impact of long-term iron chelation therapy on growth and endocrine functions in thalassaemia
    Vincenzo 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...
  93. 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...
  94. ncbi Comparison of oral and subcutaneous iron chelation therapies in the prevention of major endocrinopathies in beta-thalassemia major patients
    Chung Hsing Wang
    Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan
    Hemoglobin 30:257-62. 2006
    ....
  95. ncbi A randomized controlled study evaluating the safety and efficacy of deferiprone treatment in thalassemia major patients from Hong Kong
    Shau 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...
  96. ncbi Pilot study on the "quality of life" as reflected by psychosocial adjustment of children with thalassemia major undergoing iron-chelating treatment in western Taiwan
    Huang 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...
  97. ncbi Comparison between desferrioxamine and combined therapy with desferrioxamine and deferiprone in iron overloaded thalassaemia patients
    Fadi 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...
  98. ncbi 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...
  99. ncbi 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 gene
    Paloma 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...
  100. ncbi 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 families
    Mary 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...
  101. ncbi Single and combination drug therapy for fetal hemoglobin augmentation in hemoglobin E-beta 0-thalassemia: Considerations for treatment
    Sylvia 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...

Research Grants92

  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. Characterization of a alpha-globin chaperone protein
    Mitchell Weiss; Fiscal Year: 2006
    ..abstract_text> ..
  3. Harmful effects of transfusion of older stored red cells: iron and inflammation
    Steven Spitalnik; Fiscal Year: 2009
    ....
  4. 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. ..
  5. PARVOVIRUS VECTORS FOR HUMAN GENE THERAPY
    Arun 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. ..
  6. The role of hepcidin in beta-thalassemia
    Stefano Rivella; Fiscal Year: 2007
    ....
  7. 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. ..
  8. 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 ..
  9. The influence of genotype on the outcome of gene transfer in beta-thalassemia
    Stefano 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. ..
  10. Cell Therapies for Cooley's Anemia
    Thomas Ryan; Fiscal Year: 2006
    Cooley'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 ..
  11. Cyclic Nucleotides and Fetal Globin Gene Expression
    Tohru Ikuta; Fiscal Year: 2004
    ....
  12. GLOBIN GENE REGULATION DURING ERYTHROID DIFFERENTIATION
    GORDON GINDER; Fiscal Year: 2004
    ..abstract_text> ..
  13. 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. ..
  14. Nonsense codon activation of endonuclease-mediated mRNA decay
    Daniel 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. ..
  15. 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) ..