thalassemia

Summary

Summary: A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.

Top Publications

  1. pmc MRI R2 and R2* mapping accurately estimates hepatic iron concentration in transfusion-dependent thalassemia and sickle cell disease patients
    John C Wood
    Department of Pediatrics, Children s Hospital Los Angeles, 4650 Sunset Blvd, Los Angeles, CA 90027 0034, USA
    Blood 106:1460-5. 2005
  2. ncbi High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin
    Toshihiko Tanno
    Molecular Medicine Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 10 Center Drive, Bethesda, Maryland 20892, USA
    Nat Med 13:1096-101. 2007
  3. ncbi Iron overload in thalassemia and related conditions: therapeutic goals and assessment of response to chelation therapies
    John B Porter
    Red Cell Disorders Unit, University College London Hospital, 250 Euston Road, London, UK
    Hematol Oncol Clin North Am 24:1109-30. 2010
  4. doi Quality of life in thalassemia: a comparison of SF-36 results from the thalassemia longitudinal cohort to reported literature and the US norms
    A Sobota
    Children s Hospital Boston, Massachusetts, USA
    Am J Hematol 86:92-5. 2011
  5. ncbi Myocardial T*2 measurement in iron-overloaded thalassemia: an ex vivo study to investigate optimal methods of quantification
    Taigang He
    National Heart and Lung Institute, Imperial College London, UK
    Magn Reson Med 60:350-6. 2008
  6. ncbi Attitudes towards prenatal diagnosis and termination of pregnancy for thalassaemia in pregnant Pakistani women in the North of England
    Shenaz Ahmed
    Academic Unit of Psychiatry and Behavioural Sciences, University of Leeds, Leeds, LS2 9LT, UK
    Prenat Diagn 26:248-57. 2006
  7. ncbi Psychological problems and quality of life in children with thalassemia
    D Shaligram
    Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bangalore, India
    Indian J Pediatr 74:727-30. 2007
  8. ncbi Effect of deferiprone on liver iron overload and fibrosis in hepatitis-C-virus-infected thalassemia
    An Chyi Chen
    Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan
    Hemoglobin 30:209-14. 2006
  9. pmc Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies
    George P Patrinos
    MGC Department of Cell Biology and Genetics, Erasmus MC, Faculty of Medicine and Health Sciences, PO Box 1738, 3000 DR, Rotterdam, The Netherlands
    Nucleic Acids Res 32:D537-41. 2004
  10. doi High nontransferrin bound iron levels and heart disease in thalassemia major
    Antonio Piga
    Department of Clinical and Biological Sciences, University of Torino, Turin, Italy
    Am J Hematol 84:29-33. 2009

Research Grants

  1. MOLECULAR ANALYSIS OF NORMAL AND THALASSEMIC DNA
    Stuart H Orkin; Fiscal Year: 2010
  2. Prevention of Complications in Thalassemia
    Elliott Vichinsky; Fiscal Year: 2009
  3. Prevention of Complications in Thalassemia
    Elliott P Vichinsky; Fiscal Year: 2010
  4. Prevention of Complications in Thalassemia
    Elliott Vichinsky; Fiscal Year: 2007
  5. WEILL CORNELL PROGRAM OF EXCELLENCE IN GENE THERAPY
    Ronald Crystal; Fiscal Year: 2005
  6. Transfusion Induced BMT Rejection
    James C Zimring; Fiscal Year: 2012
  7. Transfusion Induced BMT Rejection
    James C Zimring; Fiscal Year: 2010
  8. Transfusion Induced BMT Rejection
    JAMES ZIMRING; Fiscal Year: 2009
  9. COMPREHENSIVE SICKLE CELL CENTER
    RONALD NAGEL; Fiscal Year: 1993
  10. HEME AND GLOBIN SYNTHESIS IN INFANTS AND CHILDREN
    Elias Schwartz; Fiscal Year: 1993

Detail Information

Publications254 found, 100 shown here

  1. pmc MRI R2 and R2* mapping accurately estimates hepatic iron concentration in transfusion-dependent thalassemia and sickle cell disease patients
    John C Wood
    Department of Pediatrics, Children s Hospital Los Angeles, 4650 Sunset Blvd, Los Angeles, CA 90027 0034, USA
    Blood 106:1460-5. 2005
    ..Both R2 and R2* can accurately measure hepatic iron concentration throughout the clinically relevant range of HIC with appropriate MRI acquisition techniques...
  2. ncbi High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin
    Toshihiko Tanno
    Molecular Medicine Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 10 Center Drive, Bethesda, Maryland 20892, USA
    Nat Med 13:1096-101. 2007
    In thalassemia, deficient globin-chain production during erythropoiesis results in anemia...
  3. ncbi Iron overload in thalassemia and related conditions: therapeutic goals and assessment of response to chelation therapies
    John B Porter
    Red Cell Disorders Unit, University College London Hospital, 250 Euston Road, London, UK
    Hematol Oncol Clin North Am 24:1109-30. 2010
    ..with variable extrahepatic distribution that is typically less pronounced in sickle cell disease than in thalassemia disorders...
  4. doi Quality of life in thalassemia: a comparison of SF-36 results from the thalassemia longitudinal cohort to reported literature and the US norms
    A Sobota
    Children s Hospital Boston, Massachusetts, USA
    Am J Hematol 86:92-5. 2011
    b>Thalassemia is a chronic, inherited blood disorder, which, in its most severe form, causes life-threatening anemia...
  5. ncbi Myocardial T*2 measurement in iron-overloaded thalassemia: an ex vivo study to investigate optimal methods of quantification
    Taigang He
    National Heart and Lung Institute, Imperial College London, UK
    Magn Reson Med 60:350-6. 2008
    ..measurement has been increasingly used for iron quantification to assess the risk of cardiac complications in thalassemia patients...
  6. ncbi Attitudes towards prenatal diagnosis and termination of pregnancy for thalassaemia in pregnant Pakistani women in the North of England
    Shenaz Ahmed
    Academic Unit of Psychiatry and Behavioural Sciences, University of Leeds, Leeds, LS2 9LT, UK
    Prenat Diagn 26:248-57. 2006
    ..This study is aimed at exploring the attitudes of pregnant Pakistani women towards prenatal diagnosis and termination of pregnancy for beta-thalassaemia major in the North of England...
  7. ncbi Psychological problems and quality of life in children with thalassemia
    D Shaligram
    Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bangalore, India
    Indian J Pediatr 74:727-30. 2007
    The study is aimed to assess psychological problems and quality of life (QOL) in children with thalassemia.
  8. ncbi Effect of deferiprone on liver iron overload and fibrosis in hepatitis-C-virus-infected thalassemia
    An Chyi Chen
    Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan
    Hemoglobin 30:209-14. 2006
    ..of liver iron overload and fibrosis after treatment with a chelating agent in hepatitis C virus (HCV)-infected thalassemia, from April 1999 to July 2004, 45 patients with thalassemia major (age range 9-33 years, mean 19...
  9. pmc Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies
    George P Patrinos
    MGC Department of Cell Biology and Genetics, Erasmus MC, Faculty of Medicine and Health Sciences, PO Box 1738, 3000 DR, Rotterdam, The Netherlands
    Nucleic Acids Res 32:D537-41. 2004
    ..and high quality information on the genomic sequence changes leading to hemoglobin variants and all types of thalassemia and hemoglobinopathies...
  10. doi High nontransferrin bound iron levels and heart disease in thalassemia major
    Antonio Piga
    Department of Clinical and Biological Sciences, University of Torino, Turin, Italy
    Am J Hematol 84:29-33. 2009
    ..We assessed NTBI levels in a large and homogeneous series of thalassemia patients on regular transfusion and chelation and explored the hypothesis that NTBI levels may be associated ..
  11. doi Differential regulation of redox proteins and chaperones in HbEβ-thalassemia erythrocyte proteome
    Dipankar Bhattacharya
    Structural Genomics Section, Saha Institute of Nuclear Physics, Kolkata, India
    Proteomics Clin Appl 4:480-8. 2010
    In (hemoglobin, Hb) HbEβ-thalassemia, HbE (β-26 Glu→Lys) interacts with β-thalassemia to produce clinical manifestation of varying severity...
  12. doi Thalassemia as a global health problem: recent progress toward its control in the developing countries
    D J Weatherall
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, United Kingdom
    Ann N Y Acad Sci 1202:17-23. 2010
    ..progress recently in addressing these problems and there are several ways in which the lot of children with thalassemia in poor countries could be improved in the future...
  13. pmc Paraspinal extramedullary hematopoiesis in patients with thalassemia intermedia
    Rachid Haidar
    Division of Orthopedic Surgery, Department of Surgery, American University of Beirut Medical Center, 11 0236, Riad El Solh, Beirut, 1107 2020, Lebanon
    Eur Spine J 19:871-8. 2010
    Ineffective erythropoiesis in patients with thalassemia intermedia drives extramedullary hematopoietic tumor formation in several parts of the body...
  14. doi The definition and epidemiology of non-transfusion-dependent thalassemia
    David J Weatherall
    Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
    Blood Rev 26:S3-6. 2012
    ..The primary forms of non-transfusion-dependent thalassemia include β-thalassemia intermedia, hemoglobin E β-thalassemia, and hemoglobin H disease...
  15. doi Deferasirox reduces iron overload significantly in nontransfusion-dependent thalassemia: 1-year results from a prospective, randomized, double-blind, placebo-controlled study
    Ali T Taher
    American University of Beirut, Beirut, Lebanon
    Blood 120:970-7. 2012
    Nontransfusion-dependent thalassemia (NTDT) patients may develop iron overload and its associated complications despite receiving only occasional or no transfusions...
  16. pmc Molecular detection method for all known genotypes of TT virus (TTV) and TTV-like viruses in thalassemia patients and healthy individuals
    Yu Wen Hu
    Canadian Blood Services, 1800 Alta Vista Drive, Ottawa, Ontario, Canada K1G 4J5
    J Clin Microbiol 43:3747-54. 2005
  17. ncbi Identification of two new synthetic histone deacetylase inhibitors that modulate globin gene expression in erythroid cells from healthy donors and patients with thalassemia
    Antonello Mai
    Istituto Pasteur Fondazione Cenci Bolognetti, Dipartimento di Studi Farmaceutici, Universita degli Studi di Roma La Sapienza, Roma, Italy
    Mol Pharmacol 72:1111-23. 2007
    ..24 were also tested as gamma/(gamma+beta) mRNA inducers in erythroblasts obtained from patients with beta(0) thalassemia. Progenitor cells from patients with beta(0) thalassemia generated in vitro morphologically normal ..
  18. ncbi Activated peripheral blood and endothelial cells in thalassemia patients
    D S Kyriakou
    Department of Hematology, University Hospital of Heraklion, Crete, Greece
    Ann Hematol 80:577-83. 2001
    b>Thalassemia patients have alterations in the expression of some activation and adhesion molecules on peripheral blood lymphocytes...
  19. ncbi Premarital screening for thalassemia and sickle cell disease in Saudi Arabia
    Nasser Abdulrahman Alhamdan
    Non Communicable Disease Program, Ministry of Health, Kingdom of Saudi Arabia
    Genet Med 9:372-7. 2007
    To estimate the prevalence of sickle cell disorders and beta thalassemia, with their regional distribution, in the adult population screened as part of the Saudi Premarital Screening Program.
  20. pmc Type 1 regulatory T cells are associated with persistent split erythroid/lymphoid chimerism after allogeneic hematopoietic stem cell transplantation for thalassemia
    Giorgia Serafini
    Mediterranean Institute of Hematology, IME Foundation, Policlinico di Tor Vergata, Rome, Italy
    Haematologica 94:1415-26. 2009
    b>Thalassemia major can be cured with allogeneic hematopoietic stem cell transplantation...
  21. pmc Iranian national thalassaemia screening programme
    Ashraf Samavat
    Genetics Office, Disease Management Centre, Ministry of Health and Medical Education, Tehran, Iran
    BMJ 329:1134-7. 2004
  22. ncbi Physical growth patterns and dental caries in thalassemia
    Sunil Gomber
    Department of Pediatrics, University College of Medical Sciences and Guru Teg Bahadur Hospital, Shahdara, Delhi, India
    Indian Pediatr 43:1064-9. 2006
    ..Weight, standing height, sitting height and subischial leg length were measured in 65 children attending the Thalassemia day care center at a tertiary hospital in Delhi...
  23. doi Advances in management of thalassemia
    M B Agarwal
    Department of Hematology, Bombay Hospital Institute of Medical Sciences, Mumbai, India
    Indian J Pediatr 76:177-84. 2009
    Thalassemias represent the most common single-gene disorder causing a major public health problem in India. Thalassemia and hemoglobinopathies probably developed over 7000 years ago as a defense against malaria...
  24. doi Postmarital follow-up survey on high risk patients subjected to premarital screening program in Saudi Arabia
    Ayman Al Sulaiman
    Department of Genetic, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia
    Prenat Diagn 30:478-81. 2010
    ..Ministry of Health in Saudi Arabia had initiated premarital screening program (PMS) in all country regions...
  25. ncbi Current status of thalassemia in minority populations in Guangxi, China
    H F Pan
    Division of Human Genetics, Department of Pediatrics, University of California, Irvine, CA 92697, USA
    Clin Genet 71:419-26. 2007
    b>Thalassemia is one of the most common monogenic disorders in the world...
  26. pmc Thalassemia in Bombay: the role of medical genetics in developing countries
    B Sangani
    Research Laboratories, B J Wadia Hospital for Children, Parel, Bombay, India
    Bull World Health Organ 68:75-81. 1990
    ..Thus cost-effective management and prevention through screening, genetic counselling, and prenatal diagnosis are at least as important in the developing as in developed countries...
  27. pmc International reproducibility of single breathhold T2* MR for cardiac and liver iron assessment among five thalassemia centers
    Paul Kirk
    Imperial College and Royal Brompton Hospital, London, United Kingdom
    J Magn Reson Imaging 32:315-9. 2010
    ..To examine the reproducibility of the single breathhold T2* technique from different scanners, after installation of standard methodology in five international centers...
  28. ncbi Prevalence of hepatitis C virus infection in thalassemia and haemodialysis patients in north Iran-Rasht
    M M Ansar
    Biochemistry Department, Rasht Medical Faculty, Gilan, Iran
    J Viral Hepat 9:390-2. 2002
    Hepatitis C virus (HCV) seroprevalence and risk factors in north Iran were investigated in 105 thalassemia sufferers, 93 haemodialysis patients and 5976 blood donors by second generation ELISA...
  29. doi Distribution of hepatitis C virus genotype in Iranian multiply transfused patients with thalassemia
    Seyed Moayed Alavian
    Baqiyatallah University of Medical Sciences, Research Center for Gastroenterology and Liver Disease, Baqiyatallah Hospital, Tehran, Iran
    Transfusion 49:2195-9. 2009
    Hepatitis C virus (HCV) infection is the most common transfusion-transmitted disease in multiply transfused patients worldwide. In this study, the aim was to investigate distribution of HCV genotypes in Iranian patients with thalassemia.
  30. ncbi Evaluation of a web-based network for reproducible T2* MRI assessment of iron overload in thalassemia
    A Meloni
    MRI Laboratory, G Monasterio Foundation and Institute of Clinical Physiology, CNR, Via Moruzzi 1, Pisa, Italy
    Int J Med Inform 78:503-12. 2009
    To build and evaluate a national network able to improve the care of thalassemia, a genetic disorder in haemoglobin synthesis often associated with iron accumulation in a variety of organs, due to the continuous blood transfusions.
  31. ncbi Cord compression due to extramedullary hemopoiesis in a patient with thalassemia
    S K Lau
    Department of Orthopaedics and Traumatology, Queen Elizabeth Hospital, Kowloon, Hong Kong
    Spine (Phila Pa 1976) 19:2467-70. 1994
    STUDY DESIGN. This is a case report of a patient with thalassemia who had acute spinal cord compression at the T3 to T8 level and presented for treatment. METHODS...
  32. ncbi Feasibility of thalassaemia control by extended family screening in Indian context
    Anita Saxena
    Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
    J Health Popul Nutr 20:31-5. 2002
    ..There is also a need to make the screening more readily available and to motivate high-risk groups through awareness-raising programmes...
  33. ncbi Increased circulating activated endothelial cells, vascular endothelial growth factor, and tumor necrosis factor in thalassemia
    Punnee Butthep
    Hematology Division, Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Rama 6 Road, Bangkok 10400, Thailand
    Am J Hematol 70:100-6. 2002
    ..number of circulating endothelial cells (CECs) was demonstrated in alpha- and beta-thalassemic patients, beta-thalassemia/hemoglobin E (BE), both splenectomized (BE[S]) and non-splenectomized (BE[NS]), had higher numbers of CECs than ..
  34. ncbi Development of a measure of informed choice suitable for use in low literacy populations
    Elizabeth Dormandy
    Department of Psychology at Guy s, Health Psychology Section, Institute of Psychiatry, King s College London, London, UK
    Patient Educ Couns 66:278-95. 2007
    ..The measure comprises (a) knowledge about the test and (b) attitudes towards undergoing the test. Responses to (a) and (b) together with information on test uptake, are used to classify choices as informed or uninformed...
  35. ncbi Decision-making in adult thalassemia patients undergoing unrelated bone marrow transplantation: quality of life, communication and ethical issues
    G Caocci
    Unità operativa Centro Trapianti di Midollo Osseo, P O R Binaghi, Cagliari, Italy
    Bone Marrow Transplant 37:165-9. 2006
    Bone marrow transplantation (BMT) represents a potentially curative treatment of thalassemia. For patients without an HLA-identical sibling donor, recourse to an unrelated donor is a practicable option but the candidates and their ..
  36. ncbi Effects of iron overload and hepatitis C virus positivity in determining progression of liver fibrosis in thalassemia following bone marrow transplantation
    Emanuele Angelucci
    Unità Operativa di Ematologia e Centro Trapianto di Midollo Osseo di Muraglia, Azienda Ospedale di Pesaro, Italy
    Blood 100:17-21. 2002
    ..history of liver fibrosis, we reviewed serial hepatic biopsy specimens taken annually from patients cured of thalassemia major by bone marrow transplantation...
  37. ncbi The influence of faith and religion and the role of religious and community leaders in prenatal decisions for sickle cell disorders and thalassaemia major
    Shenaz Ahmed
    Academic Unit of Psychiatry and Behavioural Sciences, University of Leeds, Leeds, UK
    Prenat Diagn 26:801-9. 2006
    ....
  38. ncbi Chelation therapy in patients with thalassemia using the orally active iron chelator deferiprone (L1)
    Y Rombos
    First Dept of Medicine, Athens University Medical School, Laikon Hospital, 11527 Athens, Greece
    Haematologica 85:115-7. 2000
    ..Deferiprone (1,2-dimethyl-3-hydroxy-pyridine-4-one, L1) is an orally active iron chelator mainly excreted via urine. We conducted a study in order to determine the efficacy and safety of L1 in Greek thalassemic patients...
  39. ncbi Randomized trial of two different conditioning regimens for bone marrow transplantation in thalassemia--the role of busulfan pharmacokinetics in determining outcome
    M Chandy
    Department of Hematology, Christian Medical College, Vellore, India
    Bone Marrow Transplant 36:839-45. 2005
    In total, 94 patients with homozygous beta thalassemia were randomized to two different conditioning regimens: busulfan 600 mg/m2 + cyclophosphamide 200 mg/kg or busulfan 16 mg/kg + cyclophosphamide 200 mg/kg and antilymphocyte globulin (..
  40. doi Health care transition in thalassemia: pediatric to adult-oriented care
    Laurice Levine
    Department of Hematology Oncology, Children s Hospital and Research Center Oakland, Oakland, California, USA
    Ann N Y Acad Sci 1202:244-7. 2010
    Improved technology and medical advances have increased the lifespan for people with thalassemia. As thalassemia is no longer exclusively a pediatric blood disorder, consideration must now be given to transition planning from pediatric ..
  41. doi Treatment of hepatitis C in patients with thalassemia
    Emanuele Angelucci
    Haematologica 93:1121-3. 2008
  42. ncbi T2* magnetic resonance and myocardial iron in thalassemia
    Dudley J Pennell
    CMR Unit, Royal Brompton Hospital, Sydney Street, London SW3 6NP, UK
    Ann N Y Acad Sci 1054:373-8. 2005
    ..Most recorded cases of heart failure in thalassemia to date have occurred in patients with very low T2* values (in the severe range)...
  43. doi Detection of human erythrocytes influenced by iron deficiency anemia and thalassemia using atomic force microscopy
    Yuping Zhang
    Department of Hematology, Guangzhou First Municipal People s Hospital Affiliated to Guangzhou Medical College, Guangzhou 510180, PR China
    Micron 43:1287-92. 2012
    Iron deficiency anemia (IDA) and thalassemia (THAL) are two types of microcytic anemia, and both of these conditions disturb the morphology and function of erythrocytes at the molecular level...
  44. doi Absence of cardiac siderosis despite hepatic iron overload in Italian patients with thalassemia intermedia: an MRI T2* study
    Alberto Roghi
    Cardiac MR Unit, De Gasperis Department of Cardiology, Niguarda Ca Granda Hospital, Milan, Italy
    Ann Hematol 89:585-9. 2010
    Cardiac involvement in patients with thalassemia intermedia (TI) is characterized by a high-output state and pulmonary hypertension, with systolic left ventricle function usually being preserved...
  45. doi Osteopenia-osteoporosis syndrome in patients with thalassemia: understanding of type of bone disease and response to treatment
    Ratna Chatterjee
    Institute for Women s Health, University College London, University College Hospital, London, UK
    Hemoglobin 33:S136-8. 2009
    ..Our data also showed that ICTP and PICP is a discriminatory test but histomorphometry is the only test for characterisation of bone morphology...
  46. ncbi Intersite validations of the pixel-wise method for liver R2* analysis in transfusion-dependent thalassemia patients: a more accessible and affordable diagnostic technology
    Pairash Saiviroonporn
    Department of Radiology, Mahidol University, Bangkok, Thailand
    Hematol Oncol Stem Cell Ther 5:91-5. 2012
    MRI-R2* has been accepted as a clinical tool for monitoring iron overload in thalassemia patients, especially for monitoring liver iron concentration (LIC)...
  47. ncbi Survival and complications in patients with thalassemia major treated with transfusion and deferoxamine
    Caterina Borgna-Pignatti
    Department of Pediatrics, University of Ferrara
    Haematologica 89:1187-93. 2004
    ..Seven Italian centers reported data on survival, causes of death and appearance of complications in patients with thalassemia major...
  48. pmc Removal of erythrocyte membrane iron in vivo ameliorates the pathobiology of murine thalassemia
    P V Browne
    Department of Medicine, University of Minnesota Medical School, Minneapolis, Minnesota 55455, USA
    J Clin Invest 100:1459-64. 1997
    Abnormal deposits of free iron are found on the cytoplasmic surface of red blood cell (RBC) membranes in beta-thalassemia. To test the hypothesis that this is of importance to RBC pathobiology, we administered the iron chelator ..
  49. ncbi A prospective study of hepatocellular carcinoma incidence in thalassemia
    Andrea Mancuso
    II Divisione di Ematologia, Ospedale V Cervello, Palermo, Italia
    Hemoglobin 30:119-24. 2006
    Hepatocellular carcinoma (HCC) is a complication of cirrhosis. Due to blood transfusions, patients with beta-thalassemia (thal) are often infected with either hepatitis C virus (HCV) or hepatitis B virus (HBV)...
  50. pmc Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan
    D Rund
    Department of Hematology, Hadassah University Hospital, Jerusalem, Israel
    Proc Natl Acad Sci U S A 88:310-4. 1991
    beta-Thalassemia is a hereditary disease caused by any of 90 different point mutations in the beta-globin gene...
  51. ncbi Graft rejection after unrelated donor hematopoietic stem cell transplantation for thalassemia is associated with nonpermissive HLA-DPB1 disparity in host-versus-graft direction
    Katharina Fleischhauer
    Oncoematologia Pediatrica, IRCCS Policlinico San Matteo, P le Golgi 2, 27100 Pavia, Italy
    Blood 107:2984-92. 2006
    ..of allogeneic hematopoietic stem cell transplantation (HSCT) from matched unrelated donors (UDs) for beta-thalassemia may be hampered by the occurrence of graft rejection...
  52. doi Non-transferrin bound iron in Thalassemia: differential detection of redox active forms in children and older patients
    William Breuer
    Department of Biological Chemistry, Silberman Institute of Life Sciences, Jerusalem, Israel
    Am J Hematol 87:55-61. 2012
    ..perceived as an indicator of iron overload, impending organ damage and a chelation target in poly-transfused thalassemia patients...
  53. doi Iron overload in thalassaemia intermedia: reassessment of iron chelation strategies
    Ali Taher
    Department of Internal Medicine, Haematology Oncology Division, American University of Beirut, Medical Centre, Beirut, Lebanon
    Br J Haematol 147:634-40. 2009
    ..Better understanding of the need to assess and treat iron overload in both transfused and non-transfused TI patients is clearly required...
  54. doi How I treat thalassemia
    Eliezer A Rachmilewitz
    Department of Hematology, Wolfson Medical Center, Holon, Israel
    Blood 118:3479-88. 2011
    ..purpose of this article is to set forth our approach to diagnosing and managing the thalassemias, including β-thalassemia intermedia and β-thalassemia major...
  55. doi Elevated serum transferrin receptor levels in common types of thalassemia heterozygotes in Southeast Asia: a correlation with genotypes and red cell indices
    Noppacharn Uaprasert
    Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
    Clin Chim Acta 403:110-3. 2009
    ..Increased values are detectable in thalassemia syndromes due to increased erythropoiesis...
  56. pmc Magnetic resonance imaging assessment of excess iron in thalassemia, sickle cell disease and other iron overload diseases
    John C Wood
    Children s Hospital of Los Angeles, University of Southern California Keck School of Medicine, Los Angeles, California 90027, USA
    Hemoglobin 32:85-96. 2008
    ..Specifically, the use of R2 or R2* methods, choice of echo times, appropriate model for data fitting, the use of a pixel-wise or region-based measurement, and the choice of field strength are discussed...
  57. pmc Fracture prevalence and relationship to endocrinopathy in iron overloaded patients with sickle cell disease and thalassemia
    Ellen B Fung
    Department of Hematology at the Children s Hospital and Research Center, Oakland, CA, USA
    Bone 43:162-8. 2008
    Transfusional iron overload leads to gonadal failure and low bone mass in patients with thalassemia (Thal)...
  58. doi The role of reduced intensity preparative regimens in patients with thalassemia given hematopoietic transplantation
    Alice Bertaina
    Department of Paediatric Haematology Oncology, University of Pavia, Ospedale Bambino Gesu, Rome, Italy
    Ann N Y Acad Sci 1202:141-8. 2010
    ..hematopoietic stem cell transplantation (HSCT) still remains the only curative treatment for patients with thalassemia major (TM)...
  59. doi The role of antioxidants and iron chelators in the treatment of oxidative stress in thalassemia
    Eitan Fibach
    Department of Hematology, Hadassah Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel
    Ann N Y Acad Sci 1202:10-6. 2010
    ..of all the presented data, one can conclude that oxidative stress plays a major role in the pathophysiology of thalassemia and other congenital and acquired hemolytic anemias...
  60. ncbi The prevalence and spectrum of thalassemia in Shenzhen, Guangdong Province, People's Republic of China
    Zesong Li
    Shenzhen YiShengTang Biological Products Co Ltd, Shenzhen, Guangdong, People s Republic of China
    Hemoglobin 30:9-14. 2006
    b>Thalassemia (thal) is the most common autosomal disorder in southern China. The aim of the present study was to investigate the prevalence and spectrum of thalassemia mutations in the population of Shenzhen, Guangdong Province...
  61. ncbi Thalassemia: an overview of 50 years of clinical research
    Vijay G Sankaran
    Harvard Medical School, Boston, MA 02115, USA
    Hematol Oncol Clin North Am 24:1005-20. 2010
    ..This article emphasizes how the increasing knowledge of cellular and molecular biology are facilitating the development of more effective therapies for these patients...
  62. doi Treatment options for thalassemia patients with osteoporosis
    Evangelos Terpos
    Department of Clinical Therapeutics, University of Athens School of Medicine, Athens, Greece
    Ann N Y Acad Sci 1202:237-43. 2010
    Osteoporosis represents a prominent cause of morbidity in patients with thalassemia. The delay in sexual maturation, the presence of diabetes and hypothyroidism, the parathyroid gland dysfunction, the progressive marrow expansion, the ..
  63. pmc A cost-utility and budget impact analysis of allogeneic hematopoietic stem cell transplantation for severe thalassemic patients in Thailand
    Pattara Leelahavarong
    Health Intervention and Technology Assessment Program HITAP, Department of Health, Ministry of Public Health, Nonthaburi, Thailand
    BMC Health Serv Res 10:209. 2010
    ..aimed to estimate the cost-utility of HSCT compared with blood transfusions combined with iron chelating therapy (BT-ICT) for severe thalassemia in Thailand, and to investigate the affordability of HSCT using a budget impact analysis.
  64. ncbi Iron metabolism in heterozygotes for hemoglobin E (HbE), alpha-thalassemia 1, or beta-thalassemia and in compound heterozygotes for HbE/beta-thalassemia
    Michael B Zimmermann
    Laboratory for Human Nutrition, Swiss Federal Institute of Technology Zurich, Zurich, Switzerland
    Am J Clin Nutr 88:1026-31. 2008
    Despite large populations carrying traits for thalassemia in countries implementing universal iron fortification, there are few data on the absorption and utilization of iron in these persons.
  65. ncbi Clinical and hematological responses to hydroxyurea in Sicilian patients with Hb S/beta-thalassemia
    P Rigano
    Thalassemia Centre, Research Unit P Cutino, V Cervello Hospital, Palermo, Italy
    Hemoglobin 25:9-17. 2001
    ..sickle cell anemia (Hb S or beta(S)), few clinical studies have been carried out in patients with beta(S)/beta-thalassemia. In a two-year clinical study, we evaluated the efficacy of hydroxyurea in a group of 22 adult Sicilian ..
  66. ncbi Hemoglobinization and functional availability of iron for erythropoiesis in case of thalassemia and iron deficiency anemia
    Piet C M Bartels
    Department of Clinical Chemistry, Hematology and Immunology, Medical Center Alkmaar, Alkmaar, The Netherlands
    Clin Lab 52:107-14. 2006
    ..erythropoiesis in case of anemia is frequently due to iron deficiency or may be due to alpha- and beta- thalassemia trait as a result of increased activity of erythropoiesis...
  67. ncbi Getting the iron out: preventing and treating heart failure in transfusion-dependent thalassemia
    Danish A Jabbar
    Department of Internal Medicine, Saint Luke s Hospital, Saint Louis, MO 63017, USA
    Cleve Clin J Med 74:807-10, 813-6. 2007
    Congestive heart failure is the most common cause of death in patients with thalassemia, as chronic accumulation of iron due to regular blood transfusions leads to biventricular systolic dysfunction and death at a very young age...
  68. doi Clinical efficacy and safety evaluation of tailoring iron chelation practice in thalassaemia patients from Asia-Pacific: a subanalysis of the EPIC study of deferasirox
    Vip Viprakasit
    Haematology Oncology Division, Department of Paediatrics and Thalassaemia Center, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand
    Int J Hematol 93:319-28. 2011
    ..Our analysis confirms that, with appropriate adjustment of dose, deferasirox can be clinically effective across different regions, with manageable side effects...
  69. ncbi Molecular analysis of alpha/beta-thalassemia in a southern Chinese population
    Bang Ce Ye
    State Key Laboratory of Bioreactor Engineering, Department of Food Science and Engineering, East China University of Science and Technology, Shanghai, China
    Genet Test 11:75-83. 2007
    b>Thalassemia is endemic to many regions in southern China. The screening of severe determinants of thalassemia is of critical importance in management and control of thalassemia...
  70. doi Influence of myocardial fibrosis and blood oxygenation on heart T2* values in thalassemia patients
    Antonella Meloni
    MRI Laboratory, Institute of Clinical Physiology, G Monasterio Foundation, Pisa, Italy
    J Magn Reson Imaging 29:832-7. 2009
    To determine whether T2* measurements quantifying myocardial iron overload in thalassemia patients are influenced by myocardial fibrosis and blood oxygenation.
  71. doi Septic shock caused by Plesiomonas shigelloides in a patient with sickle beta-zero thalassemia
    Maria Auxiliadora-Martins
    Centro de Terapia Intensiva Campus, Departamento de Cirurgia e Anatomia, Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto, Universidade de Sao Paulo, HCFMRP USP, Ribeirao Preto, SP, Brasil
    Heart Lung 39:335-9. 2010
    ..We report a case of a 16-year-old female patient with sickle beta-zero thalassemia who survived septic shock caused by P...
  72. doi Iron chelation adherence to deferoxamine and deferasirox in thalassemia
    Felicia Trachtenberg
    New England Research Institutes, 9 Galen Street, Watertown, MA 02472, USA
    Am J Hematol 86:433-6. 2011
    The Thalassemia Clinical Research Network collected adherence information from 79 patients on deferoxamine and 186 on deferasirox from 2007 to 2009...
  73. ncbi Which psychosocial factors are related to chelation adherence in thalassemia? A systematic review
    Michael Evangeli
    Department of Psychology, Royal Holloway, University of London, Egham, Surrey, UK
    Hemoglobin 34:305-21. 2010
    Good adherence to iron chelation therapy in thalassemia is crucial...
  74. doi Iron overload in non-transfusion-dependent thalassemia: a clinical perspective
    Khaled M Musallam
    IRCCS Cà Granda Foundation Maggiore Policlinico Hospital, University of Milan, Milan, Italy
    Blood Rev 26:S16-9. 2012
    ..intestinal iron absorption represents an important clinical problem in patients with non-transfusion-dependent thalassemia (NTDT), particularly as they advance in age...
  75. ncbi Effects of chelators (deferoxamine, deferiprone and deferasirox) on the growth of Klebsiella pneumoniae and Aeromonas hydrophila isolated from transfusion-dependent thalassemia patients
    Godfrey Chi Fung Chan
    Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China
    Hemoglobin 33:352-60. 2009
    Infections are among the leading causes of death for thalassemia major patients. The known predisposing factors of infection include prior splenectomy, iron overload and use of iron chelator such as deferoxamine (DFO)...
  76. ncbi Comparative efficacy of desferrioxamine, deferiprone and in combination on iron chelation in thalassemic children
    Sunil Gomber
    Department of Pediatrics and Pathology, University College of Medical Sciences and Guru Teg Bahadur Hospital, Delhi 110 095, India
    Indian Pediatr 41:21-7. 2004
    ..Ascertainment of an appropriate strategy of iron chelation for multi-transfused thalassemic children in developing countries...
  77. ncbi Detection of known thalassemia point mutations by snapback single-strand conformation polymorphism: the feasibility analysis
    Wei Li
    Medical Science Research Center, Guangxi Medical University, and Department of Anal and Colorectal Surgery, The First Affiliated Hospital of Guangxi Medical University, PR China
    Clin Biochem 39:833-42. 2006
    To explore if snapback single-strand conformation polymorphism (snapback SSCP) can be applied to the detection of known thalassemia point mutations.
  78. ncbi [Clinical management of thalassemia in adults]
    Andre Tichelli
    Diagnostische Hämatologie, Universitatsspital Basel, Basel
    Ther Umsch 67:237-43. 2010
    The clinical management of patients with thalassemia has changed in the last 40 years...
  79. ncbi Incidence of haemoglobinopathies detected through neonatal screening in the United Arab Emirates
    H Al Hosani
    Central Department of Maternal and Child Health, Ministry of Health, Abu Dhabi, United Arab Emirates
    East Mediterr Health J 11:300-7. 2005
    ..02% for non-UAE citizens). The incidence of sickle cell trait was 1.1% overall (1.5% for UAE citizens and 0.8% for non-UAE citizens). Universal neonatal screening for sickle cell haemoglobin at the national level should be considered...
  80. ncbi Pharmacological induction of fetal hemoglobin: Why haven't we been more successful in thalassemia?
    Hassana Fathallah
    Division of Hematology Oncology, Box 1079, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA
    Ann N Y Acad Sci 1054:228-37. 2005
    ..of the pharmacological induction of fetal hemoglobin were conducted in patients with sickle cell disease and thalassemia. Although hydroxyurea was approved by the FDA for the treatment of sickle cell disease in 1996, no similar ..
  81. ncbi Stem cell transplantation in India
    M Chandy
    Hematology Department, The Christian Medical College, Vellore, India
    Bone Marrow Transplant 42:S81-S84. 2008
    ..b>Thalassemia accounted for a third of these transplants: the country has over 20 million carriers and 10,000 children are ..
  82. ncbi Measuring chromosome breaks in patients with thalassemia
    Tal Offer
    Children s Hospital Oakland Research Institute, Oakland, CA 94609, USA
    Ann N Y Acad Sci 1054:439-44. 2005
    Iron-mediated oxidative stress plays an important role in the pathophysiology of thalassemia. Oxidative stress can cause lesions in DNA, including double-strand breaks...
  83. doi A novel frameshift mutation (+A) at codon 18 of the beta-globin gene associated with high persistence of fetal hemoglobin phenotype and deltabeta-thalassemia
    Giordana Feriotto
    GenTech for Thal, Department of Biochemistry and Molecular Biology, Ferrara University, Ferrara, Italy
    Acta Haematol 119:28-37. 2008
    We report in this paper a novel thalassemia mutation (insertion of a single A nucleotide within the exon 1, at codon 18, of the beta-globin gene) associated with a deletion of the deltabeta-globin gene region, in a patient exhibiting ..
  84. ncbi Craniofacial deformities in transfusion-dependent thalassemia patients in Malaysia: prevalence and effect of treatment
    Heba Ahmed Toman
    Unit of Orthodontics, School of Dental Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelatan, Malaysia
    Southeast Asian J Trop Med Public Health 42:1233-40. 2011
    ..deformities (CFD) and the association between these deformities and different clinical presentations among thalassemia patients...
  85. ncbi Deferasirox: the new oral iron chelator
    A P Dubey
    Department of Pediatrics, Maulana Azad Medical College, New Delhi 110 002, India
    Indian Pediatr 44:603-7. 2007
    ..The benefit to risk profile of deferasirox is favorable. This promising new drug might decrease the burden of subcutaneous or intravenous infusion improving compliance and hence the life expectation in thalassemic patients...
  86. ncbi Sickle cell disease in Sudan
    R A Bayoumi
    Department of Biochemistry, Faculty of Medicine, University of Khartoum, Sudan
    Trans R Soc Trop Med Hyg 82:164-8. 1988
    ..6 adults with mild SCD had HbF levels below 5%. Amelioration of the disease, therefore, does not seem to be related to HbF levels; nor was it possible to relate it to high levels of erythrocyte 2,3-diphosphoglycerate...
  87. pmc Effectiveness of earlier antenatal screening for sickle cell disease and thalassaemia in primary care: cluster randomised trial
    Elizabeth Dormandy
    King s College London, Psychology Department at Guy s, London SE1 9RT, United Kingdom
    BMJ 341:c5132. 2010
    ..To evaluate the effectiveness of offering antenatal screening for sickle cell disease and thalassaemia in primary care as a way of facilitating earlier uptake of screening...
  88. ncbi Antenatal thalassaemia carrier testing: women's perceptions of "information" and "consent"
    Shenaz Ahmed
    Academic Unit of Psychiatry and Behavioural Sciences, University of Leeds, Leeds LS2 9LT, UK
    J Med Screen 12:69-77. 2005
    ..To explore the attitudes of a sample of pregnant women in the UK towards informed consent for antenatal thalassaemia carrier testing and perceived pre-test information needs for such testing...
  89. ncbi Major challenges for gene therapy of thalassemia and sickle cell disease
    Eleni Papanikolaou
    Laboratory of Cell and Gene Therapy, Centre for Basic Research, Biomedical Research Foundation of the Academy of Athens BRFAA, Greece
    Curr Gene Ther 10:404-12. 2010
    ..is being postulated as a real therapeutic alternative for many hemopoietic inherited diseases, such as β-thalassemia or sickle cell disease...
  90. doi Septic arthritis as the initial manifestation of fatal Vibrio vulnificus septicemia in a patient with thalassemia and iron overload
    Chang Hung Kuo
    Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan
    Pediatr Blood Cancer 53:1156-8. 2009
    ..We describe here the case of a 9-year-old female with thalassemia and iron overload who presented with septic arthritis as an atypical initial manifestation of fatal V...
  91. ncbi Transplantation of unrelated donor umbilical cord blood utilizing double-unit grafts for five teenagers with transfusion-dependent thalassemia
    T H Jaing
    Divisions of Hematology and Oncology, Department of Pediatrics, Chang Gung Children s Hospital, Chang Gung University, 5 Fu Shin Street, Kwei Shan, 333 Taoyuan, Taiwan
    Bone Marrow Transplant 40:307-11. 2007
    ..Five patients with transfusion-dependent thalassemia, median age 11.1 years (range 10-13.1), received 2 UCB units after myeloablative conditioning...
  92. pmc Haemoglobin Q India (alpha 64(E13) aspartic acid histidine) associated with beta-thalassemia observed in three Sindhi families
    P K Sukumaran
    J Med Genet 9:436-42. 1972
  93. doi Redefining thalassemia as a hypercoagulable state
    M Domenica Cappellini
    Universita di Milano, Policlinico Foundation IRCCS, Milan, Italy
    Ann N Y Acad Sci 1202:231-6. 2010
    As the life expectancy of beta-thalassemia patients has markedly improved over the last decade, several new complications are being recognized...
  94. pmc Molecular characterization of seven beta-thalassemia mutations in Asian Indians
    H H Kazazian
    EMBO J 3:593-6. 1984
    To characterize systematically the mutations which produce beta-thalassemia in Asian Indians, we first determined the DNA polymorphism haplotype in the beta-globin gene cluster of 44 beta-thalassemia chromosomes in the ethnic group...
  95. ncbi The first case of Hb Groene Hart [alpha119(H2)Pro-->Ser, CCT-->TCT (alpha1)] homozygosity confirms that a thalassemia phenotype is associated with this abnormal hemoglobin variant
    Piero C Giordano
    The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Hemoglobin 31:179-82. 2007
    ..In all cases, the mutated protein was not detectable but was apparently associated with a mild alpha-thalassemia (thal) phenotype, presumably due to a modification of the alpha-globin chain domain that is recognized by the a ..
  96. ncbi Transfusion-transmitted virus prevalence in Turkish patients with thalassemia
    Emel Ozyurek
    Department of Paediatrics, Section of Hematology, Hacettepe University, Medical School, Ankara, Turkey
    Pediatr Hematol Oncol 23:347-53. 2006
    ..the present work, the authors studied the clinical importance of TTV in Turkish multitransfused patients with thalassemia. Forty-six healthy and 57 thalassemic patients were enrolled in the study...
  97. ncbi Enhanced erythrocyte apoptosis in sickle cell anemia, thalassemia and glucose-6-phosphate dehydrogenase deficiency
    Karl S Lang
    Department of Physiology, University of Tuebingen, Germany
    Cell Physiol Biochem 12:365-72. 2002
    Erythrocyte diseases such as sickle cell anemia, thalassemia and glucose-6-phosphate dehydrogenase deficiency decrease the erythrocyte life span, an effect contributing to anemia...
  98. ncbi Alloimmunization among patients with transfusion-dependent thalassemia in Taiwan
    L Y Wang
    Division of Pediatric Hematology Oncology, Mackay Memorial Hospital, Taipei, Taiwan
    Transfus Med 16:200-3. 2006
    The development of erythrocyte alloantibodies complicates transfusion therapy in patients with thalassemia. However, no data are available on the frequency of erythrocyte alloimmunization in patients with transfusion-dependent ..
  99. doi Relationship of magnetic resonance imaging estimation of myocardial iron to left ventricular systolic and diastolic function in thalassemia
    Benedetta Leonardi
    Department of Cardiology, Children s Hospital Boston, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115, USA
    JACC Cardiovasc Imaging 1:572-8. 2008
    We sought to evaluate whether echocardiographic diastolic function indices correlate with myocardial iron and systolic function in patients with transfusion-dependent thalassemia (TDT) who are at risk for cardiomyopathy.
  100. doi Evaluation of growth, puberty and endocrine dysfunctions in relation to iron overload in multi transfused Indian thalassemia patients
    Rashid H Merchant
    Dr Balabhai Nanavati Hospital, Vile Parle W, Mumbai 400056, India
    Indian J Pediatr 78:679-83. 2011
    ..To determine the prevalence of growth abnormality and endocrine dysfunction in a group of multi transfused thalassemic children and to correlate these with their body iron stores...
  101. pmc Prevention of overwhelming postsplenectomy infection in thalassemia patients by partial rather than total splenectomy
    Anwar K Sheikha
    Department of Pathology, University of Mississippi Medical Center, Jackson, Miss 39216, USA
    Can J Surg 50:382-6. 2007
    ..Overwhelming postsplenectomy infection is a serious complication of splenectomy in these patients, and most present with pneumococcal septicemia. Pneumococcal vaccine given before surgery is a well-established preventive measure...

Research Grants90

  1. MOLECULAR ANALYSIS OF NORMAL AND THALASSEMIC DNA
    Stuart H Orkin; Fiscal Year: 2010
    ..to any efforts to design targeted therapy for the major hemoglobin disorders--sickle cell anemia and 2-thalassemia. Despite efforts of many investigators for more than two decades, the nuclear factors that regulate globin ..
  2. Prevention of Complications in Thalassemia
    Elliott Vichinsky; Fiscal Year: 2009
    Documentation of Capacity and Capability of the Northern California Thalassemia Center (NCTC) Prior work experience in conducting and addressing the research and programmatic objectives of the Research Initiative for the Prevention of ..
  3. Prevention of Complications in Thalassemia
    Elliott P Vichinsky; Fiscal Year: 2010
    Documentation of Capacity and Capability of the Northern California Thalassemia Center (NCTC) Prior work experience in conducting and addressing the research and programmatic objectives of the Research Initiative for the Prevention of ..
  4. Prevention of Complications in Thalassemia
    Elliott Vichinsky; Fiscal Year: 2007
    ..the research and programmatic objectives of the Research Initiative for the Prevention of Complications of Thalassemia: Since its establishment 17 years ago, the NCTC has developed a growing statewide program dedicated to ..
  5. WEILL CORNELL PROGRAM OF EXCELLENCE IN GENE THERAPY
    Ronald Crystal; Fiscal Year: 2005
    ..The 4 proposed projects (* = clinical) are: Project 1* - Genetic treatment of ?-thalassemia by lentivirus- mediated transfer of a regulated human ?-globin gene (M...
  6. Transfusion Induced BMT Rejection
    James C Zimring; Fiscal Year: 2012
    ..BMT) is a cure for non-malignant hematological disorders, including: sickle cell disease, aplastic anemia, thalassemia major, Diamond-Blackfan Anemia and Fanconi Anemia...
  7. Transfusion Induced BMT Rejection
    James C Zimring; Fiscal Year: 2010
    ..BMT) is a cure for non-malignant hematological disorders, including: sickle cell disease, aplastic anemia, thalassemia major, Diamond-Blackfan Anemia and Fanconi Anemia...
  8. Transfusion Induced BMT Rejection
    JAMES ZIMRING; Fiscal Year: 2009
    ..BMT) is a cure for non-malignant hematological disorders, including: sickle cell disease, aplastic anemia, thalassemia major, Diamond-Blackfan Anemia and Fanconi Anemia...
  9. COMPREHENSIVE SICKLE CELL CENTER
    RONALD NAGEL; Fiscal Year: 1993
    ..size of the sample needs to be large, to extricate other confounding genetic determinants as gender and alpha-thalassemia, in addition to a rather large number of haplotype subclasses...
  10. HEME AND GLOBIN SYNTHESIS IN INFANTS AND CHILDREN
    Elias Schwartz; Fiscal Year: 1993
    ..Previous studies on mutations causing beta-thalassemia, delta--thalassemia, prothrombin deficiency and thrombasthenia will be continued, and new investigations ..
  11. New Investigation Initiatives for the Prevention of Complications of Thalassemia
    Ellis J Neufeld; Fiscal Year: 2010
    This is a new application for a comprehensive Thalassemia care center, at Children's Hospital Boston (CHB), with off-site collaboration with the Thalassemia program of Children's Hospital of Atlanta...
  12. Reactivation of Fetal Gamma-globin Genes for the Treatment of Beta-globin Disorde
    JAMES ENGEL; Fiscal Year: 2009
    ..applied to the treatment of [unreadable]-globin disorders: sickle cell disease (SCD) and [unreadable]- thalassemia. Since fetal 3-globin chains inhibit red cell sickling in SCD, therapeutic agents that increase 3-globin ..
  13. AKT Signaling and Oxidative Stress Regulation of Erythropoiesis
    Saghi Ghaffari; Fiscal Year: 2010
    ..is critical for devising targeted treatments for a number of erythroid disorders including erythroleukemias, thalassemia s, and polycythemia vera...
  14. AKT Signaling and Oxidative Stress Regulation of Erythropoiesis
    Saghi Ghaffari; Fiscal Year: 2009
    ..is critical for devising targeted treatments for a number of erythroid disorders including erythroleukemias, thalassemia s, and polycythemia vera...
  15. PARVOVIRUS-MEDIATED GENE TRANSFER IN HUMAN STEM CELLS
    Arun Srivastava; Fiscal Year: 1992
    Gene-replacement remains a goal for the therapy of beta-thalassemia. The main objective of this proposal is to evaluate the feasibility of utilizing a human parvovirus as a vector to transfer the normal human beta-globin gene in ..
  16. New Investigation Initiatives for the Prevention of Complications of Thalassemia
    Ellis Neufeld; Fiscal Year: 2009
    This is a new application for a comprehensive Thalassemia care center, at Children's Hospital Boston (CHB), with off-site collaboration with the Thalassemia program of Children's Hospital of Atlanta...
  17. New Investigation Initiatives for the Prevention of Complications of Thalassemia
    Ellis Neufeld; Fiscal Year: 2007
    unreadable] DESCRIPTION (provided by applicant): This is a new application for a comprehensive Thalassemia care center, at Children's Hospital Boston (CHB), with off-site collaboration with the Thalassemia program of Children'..
  18. MicroRNAs and hematopoietic differentiation
    Harvey F Lodish; Fiscal Year: 2011
    ..levels of fetal hemoglobin (HbF) have in ameliorating the clinical symptoms of sickle cell disease and 2-thalassemia. Work by others identified three transcription factors that regulate 3 globin gene expression, MYB, BCL11A, and ..
  19. Cell Therapies for Cooley's Anemia
    Thomas Ryan; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): ? thalassemia is one of the most common genetic disorders worldwide...
  20. Cell Therapies for Cooley's Anemia
    Thomas M Ryan; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): ? thalassemia is one of the most common genetic disorders worldwide...
  21. PARVOVIRUS VECTORS FOR HUMAN GENE THERAPY
    Arun Srivastava; Fiscal Year: 2004
    Human hemoglobinopathies, such as beta-thalassemia and sickle-cell disease, are among the likely diseases amenable to gene therapy...
  22. PARVOVIRUS VECTORS FOR HUMAN GENE THERAPY
    Arun Srivastava; Fiscal Year: 2003
    Human hemoglobinopathies, such as beta-thalassemia and sickle-cell disease, are among the likely diseases amenable to gene therapy...
  23. PARVOVIRUS VECTORS FOR HUMAN GENE THERAPY
    Arun Srivastava; Fiscal Year: 2002
    Human hemoglobinopathies, such as beta-thalassemia and sickle-cell disease, are among the likely diseases amenable to gene therapy...
  24. PARVOVIRUS VECTORS FOR HUMAN GENE THERAPY
    Arun Srivastava; Fiscal Year: 2001
    Human hemoglobinopathies, such as beta-thalassemia and sickle-cell disease, are among the likely diseases amenable to gene therapy...
  25. Harmful effects of transfusion of older stored red cells: iron and inflammation
    Steven Spitalnik; Fiscal Year: 2009
    ..to two relevant human disease settings, by studying stable patients with either sickle cell disease or beta-thalassemia who regularly receive simple transfusions...
  26. 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 ..
  27. A QTL for fetal hemoglobin and F cells on chromosome 8q
    Swee Thein; Fiscal Year: 2001
    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 ..
  28. A QTL for fetal hemoglobin and F cells on chromosome 8q
    Swee Thein; Fiscal Year: 2002
    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. IN VITRO MODELS OF SICKLE CELL GENE THERAPY
    GEORGE ATWEH; Fiscal Year: 2000
    ..is a very difficult situation then a sickle cell patient with a high level of fetal hemoglobin or a sickle beta-thalassemia patient with a high level of hemoglobin a where the normal or beta-globin chains replace some of the mutant ..
  30. IN VITRO MODELS OF SICKLE CELL GENE THERAPY
    GEORGE ATWEH; Fiscal Year: 1999
    ..is a very difficult situation then a sickle cell patient with a high level of fetal hemoglobin or a sickle beta-thalassemia patient with a high level of hemoglobin a where the normal or beta-globin chains replace some of the mutant ..
  31. IN VITRO MODELS OF SICKLE CELL GENE THERAPY
    GEORGE ATWEH; Fiscal Year: 2002
    ..is a very difficult situation then a sickle cell patient with a high level of fetal hemoglobin or a sickle beta-thalassemia patient with a high level of hemoglobin a where the normal or beta-globin chains replace some of the mutant ..
  32. IN VITRO MODELS OF SICKLE CELL GENE THERAPY
    GEORGE ATWEH; Fiscal Year: 2002
    ..is a very difficult situation then a sickle cell patient with a high level of fetal hemoglobin or a sickle beta-thalassemia patient with a high level of hemoglobin a where the normal or beta-globin chains replace some of the mutant ..
  33. IN VITRO MODELS OF SICKLE CELL GENE THERAPY
    GEORGE ATWEH; Fiscal Year: 2001
    ..is a very difficult situation then a sickle cell patient with a high level of fetal hemoglobin or a sickle beta-thalassemia patient with a high level of hemoglobin a where the normal or beta-globin chains replace some of the mutant ..
  34. Pilot study of Newborn screening for hemoglobinopathies in South Gujarat India
    Lakshmanan Krishnamurti; Fiscal Year: 2009
    ..With an estimated over 10,000 live birth each year of infants with Thalassemia major and 5,200 live births of infants with sickle cell disease each year, hemoglobinopathies have emerged as a ..
  35. Stem Cell Transplantation for Hemoglobinopathies in Dogs
    JOHN HEARST; Fiscal Year: 2003
    ..of mismatched (related-haploidentical) bone marrow transplantation to patients with sickle cell disease or a thalassemia requires that allochimerism be achieved and stabilized in the bone marrow with less morbidity and mortality ..
  36. Modulation of Iron Deposition in SCD and Other Hemoglobinopathies
    ELLIOTT P contact VICHINSKY; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): In thalassemia major (TM), the complications of transfusional iron (Fe) overload and the benefits of chelation therapy are well defined...
  37. Modulation of Iron Deposition in SCD and Other Hemoglobinopathies
    Elliott Vichinsky; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): In thalassemia major (TM), the complications of transfusional iron (Fe) overload and the benefits of chelation therapy are well defined...
  38. Characterization of a alpha-globin chaperone protein
    Mitchell Weiss; Fiscal Year: 2006
    Recent discoveries in our laboratory offer new insights into normal erythroid biology and beta-thalassemia. The high- level production of hemoglobin that occurs during erythroid maturation is tightly coordinated so as to minimize ..
  39. Characterization of a alpha-globin chaperone protein
    Mitchell Weiss; Fiscal Year: 2003
    Recent discoveries in our laboratory offer new insights into normal erythroid biology and beta-thalassemia. The high- level production of hemoglobin that occurs during erythroid maturation is tightly coordinated so as to minimize ..
  40. Characterization of a alpha-globin chaperone protein
    Mitchell Weiss; Fiscal Year: 2005
    Recent discoveries in our laboratory offer new insights into normal erythroid biology and beta-thalassemia. The high- level production of hemoglobin that occurs during erythroid maturation is tightly coordinated so as to minimize ..
  41. Characterization of a alpha-globin chaperone protein
    Mitchell Weiss; Fiscal Year: 2003
    Recent discoveries in our laboratory offer new insights into normal erythroid biology and beta-thalassemia. The high- level production of hemoglobin that occurs during erythroid maturation is tightly coordinated so as to minimize ..
  42. Characterization of a alpha-globin chaperone protein
    Mitchell Weiss; Fiscal Year: 2002
    Recent discoveries in our laboratory offer new insights into normal erythroid biology and beta-thalassemia. The high- level production of hemoglobin that occurs during erythroid maturation is tightly coordinated so as to minimize ..
  43. Characterization of a alpha-globin chaperone protein
    Mitchell Weiss; Fiscal Year: 2004
    Recent discoveries in our laboratory offer new insights into normal erythroid biology and beta-thalassemia. The high- level production of hemoglobin that occurs during erythroid maturation is tightly coordinated so as to minimize ..
  44. Characterization of a alpha-globin chaperone protein
    Mitchell Weiss; Fiscal Year: 2003
    Recent discoveries in our laboratory offer new insights into normal erythroid biology and beta-thalassemia. The high- level production of hemoglobin that occurs during erythroid maturation is tightly coordinated so as to minimize ..
  45. GENE THERAPY STRATEGIES FOR TREATMENT OF COOLEY'S ANEMIA
    Arthur Bank; Fiscal Year: 1992
    ..human beta globin gene into the bone marrow cells of patients with disorders of human hemoglobin including beta thalassemia and sickle cell anemia could lead to a cure for these diseases...
  46. Prevention of Complications of Thalassemia
    Patricia Giardina; Fiscal Year: 2007
    ..by applicant): The model New York Presbyterian Hospital-Weill Medical College of Cornell University (NYPH-WMC) Thalassemia Center is the largest program in the New York area for the care of over 100 thalassemia patients and their ..
  47. Prevention of Complications of Thalassemia
    Patricia J Giardina; Fiscal Year: 2010
    ABSTRACT: The model New York Presbyterian Hospital-Weill Medical College of Cornell University (NYPH-WMC) Thalassemia Center is the largest program in the New York area for the care of over 100 thalassemia patients and their families ..
  48. Prevention of Complications of Thalassemia
    Patricia Giardina; Fiscal Year: 2009
    ABSTRACT: The model New York Presbyterian Hospital-Weill Medical College of Cornell University (NYPH-WMC) Thalassemia Center is the largest program in the New York area for the care of over 100 thalassemia patients and their families ..
  49. Nonsense codon activation of endonuclease-mediated mRNA decay
    Daniel Schoenberg; Fiscal Year: 2009
    ..The resulting loss of beta-globin expression is the mechanism underlying Cooley's anemia (beta-thalassemia), an often fatal disorder of hemoglobin production...
  50. A Comparative Approach to Globin Regulation/Thalassemia
    Leonard Zon; Fiscal Year: 2009
    ..of chromatin factors that affect hemoglobin production will have a tremendous impact on our understanding of hemoglobin production and for the treatment of patients with thalassemia, sickle cell anemia, and globin mutations.
  51. REGULATION OF FETAL AND ADULT HUMAN HEMOGLOBIN PROD
    TIMOTHY LEY; Fiscal Year: 2007
    ..of this laboratory is to develop genetically-based strategies for the treatment of sickle cell anemia and p-thalassemia. The goal of this study is to determine whether homologous recombination can be developed as a strategy to ..
  52. FETAL AND ADULT HUMAN HEMOGLOBIN PRODUCTION
    TIMOTHY LEY; Fiscal Year: 2000
    ..of this laboratory is to develop genetically-based strategies for the treatment of sickle cell anemia and beta-thalassemia. The goal of this study is to determine whether homologous recombination can be developed as a strategy to ..
  53. FETAL AND ADULT HUMAN HEMOGLOBIN PRODUCTION
    TIMOTHY LEY; Fiscal Year: 1999
    ..of this laboratory is to develop genetically-based strategies for the treatment of sickle cell anemia and beta-thalassemia. The goal of this study is to determine whether homologous recombination can be developed as a strategy to ..
  54. REGULATION OF FETAL AND ADULT HUMAN HEMOGLOBIN PRODUCTI
    TIMOTHY LEY; Fiscal Year: 2001
    ..of this laboratory is to develop genetically-based strategies for the treatment of sickle cell anemia and beta-thalassemia. The goal of this study is to determine whether homologous recombination can be developed as a strategy to ..
  55. REGULATION OF FETAL AND ADULT HUMAN HEMOGLOBIN PRODUCTI
    TIMOTHY LEY; Fiscal Year: 2003
    ..of this laboratory is to develop genetically-based strategies for the treatment of sickle cell anemia and beta-thalassemia. The goal of this study is to determine whether homologous recombination can be developed as a strategy to ..
  56. REGULATION OF FETAL AND ADULT HUMAN HEMOGLOBIN PRODUCTI
    TIMOTHY LEY; Fiscal Year: 2002
    ..of this laboratory is to develop genetically-based strategies for the treatment of sickle cell anemia and beta-thalassemia. The goal of this study is to determine whether homologous recombination can be developed as a strategy to ..
  57. REGULATION OF FETAL AND ADULT HUMAN HEMOGLOBIN PROD
    TIMOTHY LEY; Fiscal Year: 2006
    ..of this laboratory is to develop genetically-based strategies for the treatment of sickle cell anemia and beta-thalassemia. The goal of this study is to determine whether homologous recombination can be developed as a strategy to ..
  58. Mechanism and Significance of Nonsense Mediated RNA Decay Regulation in Erythropo
    Lawrence Gardner; Fiscal Year: 2009
    The differentiating erythroid cell, particularly in thalassemia, is exposed to severe cellular stresses including oxidative and hypoxic stress...
  59. Role of zfp148 (ZBP-89) in Erythroid Development
    Alan Cantor; Fiscal Year: 2007
    Beta-hemogloblinopathies, such as sickle cell anemia, and beta-thalassemia cause considerable morbidity and mortality worldwide...
  60. Reactivation of Fetal Gamma-globin Genes for the Treatment of Beta-globin Disorde
    Osamu Tanabe; Fiscal Year: 2010
    ..can be potentially applied to the treatment of gamma-globin disorders: sickle cell disease (SCD) and beta- thalassemia. Since fetal gamma-globin chains inhibit red cell sickling in SCD, therapeutic agents that increase gamma-..
  61. GENE THERAPY OF SICKLE CELL DISEASE & BETA THALASSEMIA
    George Stamatoyannopoulos; Fiscal Year: 2000
    Pre-clinical and clinical studies on gene therapy of sickle cell disease and beta thalassemia. The goal of this project is to perform the pre-clinical and clinical studies that are required for the eventual application of the therapeutic ..
  62. MR of Heart Iron: T2*/T2 Calibration & Application
    Dudley Pennell; Fiscal Year: 2004
    Beta-Thalassemia major (thalassemia) is a common genetic condition causing profound anemia which is very widespread in the world, particularly in countries where malaria has been prevalent, because single copies of the gene, which are ..
  63. Cell Therapies for Cooley's Anemia
    Thomas Ryan; Fiscal Year: 2003
    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 ..
  64. MR of Heart Iron: T2*/T2 Calibration & Application
    Dudley Pennell; Fiscal Year: 2006
    Beta-Thalassemia major (thalassemia) is a common genetic condition causing profound anemia which is very widespread in the world, particularly in countries where malaria has been prevalent, because single copies of the gene, which are ..
  65. MR of Heart Iron: T2*/T2 Calibration & Application
    Dudley Pennell; Fiscal Year: 2003
    Beta-Thalassemia major (thalassemia) is a common genetic condition causing profound anemia which is very widespread in the world, particularly in countries where malaria has been prevalent, because single copies of the gene, which are ..
  66. Cell Therapies for Cooley's Anemia
    Thomas Ryan; Fiscal Year: 2006
    DESCRIPTION (provided by applicant): 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 ..
  67. MR of Heart Iron: T2*/T2 Calibration & Application
    Dudley Pennell; Fiscal Year: 2005
    Beta-Thalassemia major (thalassemia) is a common genetic condition causing profound anemia which is very widespread in the world, particularly in countries where malaria has been prevalent, because single copies of the gene, which are ..
  68. CARDIAC DISEASE IN COOLEYS ANEMIA--MOLE AND CLIN STUDIES
    Gary Brittenham; Fiscal Year: 2001
    ..myocytes in culture, of the first animal model of the cardiomyopathy of iron overload, and of patients with thalassemia major...
  69. CARDIAC DISEASE IN COOLEYS ANEMIA--MOLE AND CLIN STUDIES
    Gary Brittenham; Fiscal Year: 2000
    ..myocytes in culture, of the first animal model of the cardiomyopathy of iron overload, and of patients with thalassemia major...
  70. CORD BLOOD COLLECTION DEVICE
    RICHARD MEYST; Fiscal Year: 2006
    ..Although 30,000 bone marrow transplants occur each year in attempts to cure diseases such as leukemia, thalassemia and sickle cell disease, approximately 60,000 patients eligible for transplant die every year without finding ..
  71. CORD BLOOD COLLECTION DEVICE
    RICHARD MEYST; Fiscal Year: 2009
    ..Although 30,000 bone marrow transplants occur each year in attempts to cure diseases such as leukemia, thalassemia and sickle cell disease, approximately 60,000 patients eligible for transplant die every year without finding ..
  72. CORD BLOOD COLLECTION DEVICE
    RICHARD MEYST; Fiscal Year: 2007
    ..Although 30,000 bone marrow transplants occur each year in attempts to cure diseases such as leukemia, thalassemia and sickle cell disease, approximately 60,000 patients eligible for transplant die every year without finding ..
  73. TREATMENT OF BETA THALASSMIA BY VIRUS TRANSFER OF BETA G
    Michel Sadelain; Fiscal Year: 2000
    Beta-Thalassemia is one of the commonest inherited diseases in humans, characterized by a severe hemolytic anemia and ineffective erythropoiesis...
  74. THALASSEMIA CLINICAL RESEARCH NETWORK
    Ellis Neufeld; Fiscal Year: 2002
    Large-scale clinical studies in thalassemia have been limited by the small numbers of patients followed at any Center in North America...
  75. THALASSEMIA CLINICAL RESEARCH NETWORK
    Ellis Neufeld; Fiscal Year: 2003
    Large-scale clinical studies in thalassemia have been limited by the small numbers of patients followed at any Center in North America...
  76. THALASSEMIA CLINICAL RESEARCH NETWORK
    ERIC NISBET BROWN; Fiscal Year: 2001
    Large-scale clinical studies in thalassemia have been limited by the small numbers of patients followed at any Center in North America...
  77. THALASSEMIA CLINICAL RESEARCH NETWORK
    Ellis Neufeld; Fiscal Year: 2004
    Large-scale clinical studies in thalassemia have been limited by the small numbers of patients followed at any Center in North America...
  78. THALASSEMIA CLINICAL RESEARCH NETWORK
    ERIC NISBET BROWN; Fiscal Year: 2000
    Large-scale clinical studies in thalassemia have been limited by the small numbers of patients followed at any Center in North America...
  79. AUGMENTATION OF FETAL HEMOGLOBIN IN THALASSEMIA
    Nancy Olivieri; Fiscal Year: 2002
    ..routes: subcutaneous bolus infections, and 8-hour subcutaneous infusions (standard therapy), in patients with thalassemia major...
  80. REDUCTION OF IRON OVERLOAD IN THALASSEMIA
    Sergio Piomelli; Fiscal Year: 1980
    This study will evaluate methods to reduce iron overload in patients with severe thalassemia major...
  81. Induction of HbF by Prolyl Hydroxylase Inhibitors
    Stephen Klaus; Fiscal Year: 2004
    Sickle cell disease (SCD) and beta-thalassemia are mostly inherited beta-hemoglobinopathies that lead to chronic anemia...
  82. HEMOGLOBIN SYNTHESIS IN SICKLE CELL TRAIT INDIVIDUALS
    JOSEPH SHAEFFER; Fiscal Year: 1980
    Sickle cell trait individuals usually have about 60% HbA and 40% HbS. Those who also have an alpha-thalassemia gene(s), which decreases production of alpha chains, have an even lower proportion (25 to 35%) of HbS...
  83. ABNORMAL HEMOGLOBIN SYNTHESIS--MECHANISM AND DETECTION
    YUET KAN; Fiscal Year: 1999
    ..is a continuation of studies on normal and abnormal synthesis in hemoglobinopathies in sickle cell anemia and thalassemia. These hereditary anemias affect people from wide geographic areas, including the Mediterranean region, Africa,..
  84. ABNORMAL HEMOGLOBIN SYNTHESIS--MECHANISM AND DETECTION
    YUET KAN; Fiscal Year: 2001
    ..is a continuation of studies on normal and abnormal synthesis in hemoglobinopathies in sickle cell anemia and thalassemia. These hereditary anemias affect people from wide geographic areas, including the Mediterranean region, Africa,..
  85. HEME AND GLOBIN SYNTHESIS IN INFANTS AND CHILDREN
    Elias Schwartz; Fiscal Year: 1990
    b>Thalassemia and sickle cell disease are important red cell disorders due to inherited deficiencies in human hemoglobins...
  86. Mechanism and Significance of Nonsense Mediated RNA Decay Regulation in Erythropo
    LAWRENCE BENJAMIN GARDNER; Fiscal Year: 2010
    The differentiating erythroid cell, particularly in thalassemia, is exposed to severe cellular stresses including oxidative and hypoxic stress...