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. ncbi 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
  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. 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
  4. ncbi 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
  5. 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
  6. pmc Deferasirox effectively reduces iron overload in non-transfusion-dependent thalassemia (NTDT) patients: 1-year extension results from the THALASSA study
    Ali T Taher
    American University of Beirut, Beirut, Lebanon
    Ann Hematol 92:1485-93. 2013
  7. ncbi 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
  8. ncbi 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
  9. ncbi Pathogenesis and management of iron toxicity in thalassemia
    Chaim Hershko
    Department of Hematology, Shaare Zedek Medical Center, Jerusalem, Israel
    Ann N Y Acad Sci 1202:1-9. 2010
  10. ncbi 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

Detail Information

Publications282 found, 100 shown here

  1. ncbi 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...
  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. 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...
  4. ncbi 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...
  5. 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...
  6. pmc Deferasirox effectively reduces iron overload in non-transfusion-dependent thalassemia (NTDT) patients: 1-year extension results from the THALASSA study
    Ali T Taher
    American University of Beirut, Beirut, Lebanon
    Ann Hematol 92:1485-93. 2013
    Patients with non-transfusion-dependent thalassemia (NTDT) often develop iron overload that requires chelation to levels below the threshold associated with complications...
  7. ncbi 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...
  8. ncbi 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...
  9. ncbi Pathogenesis and management of iron toxicity in thalassemia
    Chaim Hershko
    Department of Hematology, Shaare Zedek Medical Center, Jerusalem, Israel
    Ann N Y Acad Sci 1202:1-9. 2010
    In thalassemia major, iron overload is the joint outcome of multiple blood transfusions and an inappropriately increased iron absorption associated with ineffective erythropoiesis...
  10. ncbi 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...
  11. pmc Treating iron overload in patients with non-transfusion-dependent thalassemia
    Ali T Taher
    Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon
    Am J Hematol 88:409-15. 2013
    Despite receiving no or only occasional blood transfusions, patients with non-transfusion-dependent thalassemia (NTDT) have increased intestinal iron absorption and can accumulate iron to levels comparable with transfusion-dependent ..
  12. ncbi 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...
  13. 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...
  14. pmc 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...
  15. 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...
  16. 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...
  17. 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.
  18. ncbi 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...
  19. ncbi Infections and thalassaemia
    Sandro Vento
    Section of Infectious Diseases, Department of Pathology, University of Verona, Verona, Italy
    Lancet Infect Dis 6:226-33. 2006
    ....
  20. 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...
  21. 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.
  22. 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...
  23. pmc Bone disease in thalassemia: a frequent and still unresolved problem
    Maria G Vogiatzi
    Department of Pediatrics, Weill Medical College of Cornell, New York, New York, USA
    J Bone Miner Res 24:543-57. 2009
    Adults with beta thalassemia major frequently have low BMD, fractures, and bone pain...
  24. pmc Physiology and pathophysiology of iron cardiomyopathy in thalassemia
    John C Wood
    Division of Cardiology, Mailstop 34, Childrens Hospital of Los Angeles, 4650 Sunset Blvd, Los Angeles, CA 90027, USA
    Ann N Y Acad Sci 1054:386-95. 2005
    Iron cardiomyopathy remains the leading cause of death in patients with thalassemia major...
  25. ncbi Micromapping of thalassemia and hemoglobinopathies in diferent regions of northeast Thailand and Vientiane, Laos People's Democratic Republic
    Jaruwan Tritipsombut
    Biomedical Science Program, Graduate School, Khon Kaen University, Khon Kaen, Thailand
    Hemoglobin 36:47-56. 2012
    In order to determine the prevalence of thalassemia and hemoglobinopathies in different regions of northeast (NE) Thailand and Vientiane, Laos People's Democratic Republic (PDR), a total of 1,809 blood samples were collected ..
  26. 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...
  27. ncbi Results from the north cyprus thalassemia prevention program
    Gülsen Bozkurt
    North Cyprus Thalassaemia Centre, Nicosia, Cyprus
    Hemoglobin 31:257-64. 2007
    b>Thalassemia was a serious health problem in Cyprus. The first scientific studies on thalassemia started in 1976 after a seminar which was organized by the Turkish Hematology Association...
  28. 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...
  29. ncbi Overview on practices in thalassemia intermedia management aiming for lowering complication rates across a region of endemicity: the OPTIMAL CARE study
    Ali T Taher
    Department of Internal Medicine, Hematology Oncology Division, American University of Beirut Medical Center, Beirut, Lebanon
    Blood 115:1886-92. 2010
    Despite recent advances in understanding the pathophysiologic mechanisms behind the thalassemia intermedia (TI) phenotype, data on the effects of treatment are deficient...
  30. 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)...
  31. ncbi 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...
  32. 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
  33. 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...
  34. 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
  35. 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...
  36. 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.
  37. ncbi 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...
  38. ncbi 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...
  39. 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 ..
  40. 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...
  41. 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...
  42. 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...
  43. 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...
  44. 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...
  45. 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...
  46. 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...
  47. ncbi 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.
  48. 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...
  49. ncbi Iron chelation therapy in the management of thalassemia: the Asian perspectives
    Vip Viprakasit
    Siriraj Thalassemia Research Program, Haematology Oncology Division, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand
    Int J Hematol 90:435-45. 2009
    Worldwide, thalassemia is the most commonly inherited hemolytic anemia, and it is most prevalent in Asia and the Middle East. Iron overload represents a significant problem in patients with transfusion-dependent beta-thalassemia...
  50. 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.
  51. 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...
  52. 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 ..
  53. 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...
  54. 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...
  55. 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 ..
  56. 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...
  57. 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
    ....
  58. ncbi Thalassemia syndromes
    Asha Shah
    BSES MG Hospital and Holy Family Hospital, 6 32, Hari Kripa, S V Road, Santacruz W, Mumbai 400 054, India
    Indian J Med Sci 58:445-9. 2004
  59. ncbi Novel pharmacokinetic behavior of intravenous busulfan in children with thalassemia undergoing hematopoietic stem cell transplantation: a prospective evaluation of pharmacokinetic and pharmacodynamic profile with therapeutic drug monitoring
    Javid Gaziev
    International Center for Transplantation in Thalassemia and Sickle Cell Anemia, Mediterranean Institute of Hematology, Policlinico Tor Vergata, Rome, Italy
    Blood 115:4597-604. 2010
    ..Bu) in 71 children with preexisting liver damage who underwent hematopoietic stem cell transplantation for thalassemia. Intravenous Bu was administered every 6 hours as part of a conditioning regimen with PK-based dose adjustment ..
  60. ncbi A prospective randomized controlled trial on the safety and efficacy of alternating deferoxamine and deferiprone in the treatment of iron overload in patients with thalassemia
    Renzo Galanello
    Department of Biomedical Science and Biotechnology, University of Cagliari, Ospedale Microcitemico, Italy
    Haematologica 91:1241-3. 2006
    ..Sixty transfusion-dependent thalassemia patients regularly treated with deferoxamine were randomized to continue deferoxamine alone or to receive an ..
  61. pmc Maximising recruitment and retention of general practices in clinical trials: a case study
    Elizabeth Dormandy
    Department of Clinical Genetics, King s College London, London, UK
    Br J Gen Pract 58:759-66, i-ii. 2008
    ..There is limited evidence regarding the factors that facilitate recruitment and retention of general practices in clinical trials. It is therefore pertinent to consider the factors that facilitate research in primary care...
  62. pmc Umbilical cord blood transplantation for children with thalassemia and sickle cell disease
    Annalisa Ruggeri
    Clinical Research Unit, Eurocord Office, Hôpital Saint Louis APHP, Paris, France
    Biol Blood Marrow Transplant 17:1375-82. 2011
    We examined the efficacy of unrelated cord blood (CB) transplantation in children with thalassemia (n = 35) and sickle cell disease (n = 16), using data reported to 3 registries...
  63. ncbi Myocardial iron loading in transfusion-dependent thalassemia and sickle cell disease
    John C Wood
    Division of Pediatric Cardiology, Childrens Hospital Los Angeles, Los Angeles, CA 90027, USA
    Blood 103:1934-6. 2004
    ..T2* (magnetic resonance imaging relaxation parameter) is abnormally low in approximately 40% of adults with thalassemia major (TM), suggesting myocardial iron deposition, but it is unknown at what age this occurs...
  64. ncbi Nutritional deficiencies in patients with thalassemia
    Ellen B Fung
    Department of Hematology Oncology, Children s Hospital and Research Center at Oakland, Oakland, California, USA
    Ann N Y Acad Sci 1202:188-96. 2010
    ..Optimal nutritional status is imperative for growth, development, immune function, and bone health. Patients with thalassemia are known to have poor growth, altered puberty, and immune function as well as reduced bone mineral acquisition...
  65. ncbi 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 ..
  66. ncbi Anemia, iron deficiency and thalassemia among adolescents in Northeast Thailand: results from two independent surveys
    Anupong Pansuwan
    The Graduate School, Khon Kaen University, Thailand
    Acta Haematol 125:186-92. 2011
    The prevalence of adolescent anemia, iron deficiency and thalassemia were examined in 2 provinces of northeast Thailand...
  67. ncbi Use of portable X-ray fluorescence (PXRF) in vivo as an alternative technique for the assessment of iron levels in patients with thalassemia and hemochromatosis
    Marcelo Estevam
    Institute Federal of Parana, Campus Londrina, Londrina, PR, Brazil
    Health Phys 104:132-8. 2013
    ..the portable x-ray fluorescence (PXRF) technique as a means of measuring iron levels in patients suffering from thalassemia major (beta-thalassemia) and hereditary hemochromatosis (HH or Haemochromatosis) or other iron-overload ..
  68. ncbi Analysis of the A(TA)(n)TAA configuration in the promoter region of the UGT1 A1 gene in Greek patients with thalassemia intermedia and sickle cell disease
    Vassiliki Kalotychou
    First Department of Medicine, University of Athens School of Medicine, Laikon General Hospital, 11527, Athens, Greece
    Blood Cells Mol Dis 31:38-42. 2003
    ..The homozygosity A(TA)(7)TAA/A(TA)(7)TAA is involved in Gilbert's syndrome. In many cases of patients with thalassemia intermedia and sickle cell disease considerable variation in bilirubin levels is observed...
  69. ncbi Clinical indicators for pulmonary arterial hypertension in thalassemia
    Nonlawan Chueamuangphan
    Department of Medicine, Chiang Rai Hospital, Chiang Rai, Thailand
    J Med Assoc Thai 95:16-21. 2012
    To explore clinical indicators for pulmonary arterial hypertension (PAH) in thalassemia (Thal).
  70. ncbi Management of chronic viral hepatitis in patients with thalassemia: recommendations from an international panel
    Vito Di Marco
    Italian Society for the Study of Thalassemia and Haemoglobinopathies, Rome, Italy
    Blood 116:2875-83. 2010
    Chelation therapy with new drugs prevents cardiac damage and improves the survival of thalassemia patients. Liver diseases have emerged as a critical clinical issue...
  71. ncbi The natural history of thalassemia intermedia
    Caterina Borgna-Pignatti
    Department of Clinical and Experimental Medicine, Universita di Ferrara, Ferrara, Italy
    Ann N Y Acad Sci 1202:214-20. 2010
    The severity of thalassemia intermedia depends on the degree of imbalance between alpha and non-alpha chains as well as other genetic and environmental factors that modify the natural history of the disease...
  72. ncbi Hb Bristol-Alesha presenting thalassemia-type hyperunstable hemoglobinopathy
    Gen Kano
    Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan
    Int J Hematol 80:410-5. 2004
    ....
  73. pmc Updates of the HbVar database of human hemoglobin variants and thalassemia mutations
    Belinda Giardine
    The Pennsylvania State University, Center for Comparative Genomics and Bioinformatics, University Park, PA, USA, Department of Applied Biomedical Science, Faculty of Health Sciences, University of Malta, Msida, Malta, MGC Department of Cell Biology and Genetics, Erasmus MC, Faculty of Medicine and Health Sciences, Rotterdam, The Netherlands, Department of Computer Engineering and Informatics, University of Patras, Faculty of Engineering, Patras, Greece, Department of Pharmacy, University of Patras, School of Health Sciences, Patras, Greece, Department of Medical Genetics, Laboratory of Cytogenetics, Institute of Biology, Nantes, France, Hopital Edouard Herriot, Unité de Pathologie Moléculaire du Globule Rouge, Lyon, France, Department of Computer and Informatics Engineering, Technological Educational Institute of Western Greece, Patras, Greece, INSERM U955, CHU Henri Mondor, Creteil, France and Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA
    Nucleic Acids Res 42:D1063-9. 2014
    ..effort to provide timely information on the genomic alterations leading to hemoglobin variants and all types of thalassemia and hemoglobinopathies...
  74. ncbi [Rapid differential diagnosis of thalassemia trait and iron-deficiency anemia with stepwise regression analysis]
    You ping Xie
    Zhuhai Maternal and Child Health Care Hospital, Zhuhai 519001, China
    Nan Fang Yi Ke Da Xue Xue Bao 28:609-11. 2008
    To establish a method for rapid differential diagnosis of thalassemia trait (TT) and iron-deficiency anemia (IDA) using stepwise regression analysis.
  75. ncbi [Population intervention of thalassemia relying on family planning service system]
    Shan Wei Feng
    Guangzhou Institute of Population and Family Planning, Guangzhou, Guangdong, 510410 P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 28:223-6. 2011
    To set up thalassemia population intervention model in order to decrease the birth of thalassemia major, relying on population and family planning service system.
  76. pmc Characterization of low bone mass in young patients with thalassemia by DXA, pQCT and markers of bone turnover
    Ellen B Fung
    Department of Hematology at the Children s Hospital and Research Center, Oakland, CA, USA
    Bone 48:1305-12. 2011
    Previous reports using dual x-ray absorptiometry (DXA) suggest that up to 70% of adults with thalassemia major (Thal) have low bone mass...
  77. ncbi Beta-thalassemia due to a T----A mutation within the ATA box
    Y J Fei
    Department of Cell and Molecular Biology, Medical College of Georgia, Augusta 30912 2100
    Biochem Biophys Res Commun 153:741-7. 1988
    Sequence analyses of amplified DNA from a Yugoslavian patient with Hb Lepore-beta-thalassemia and from his father with a simple beta-thalassemia trait have revealed a T----A mutation within the ATA box at a position 30 base pairs ..
  78. ncbi The morbidity of bone disease in thalassemia
    E P Vichinsky
    Department of Hematology Oncology, Children s Hospital Oakland, California 94609, USA
    Ann N Y Acad Sci 850:344-8. 1998
    As thalassemia patients age, bone disease becomes a serious cause of morbidity. The frequency and type of bone disease is affected by the underlying type of thalassemia and its treatment...
  79. pmc Molecular basis for dominantly inherited inclusion body beta-thalassemia
    S L Thein
    Medical Research Council, John Radcliffe Hospital, Oxford, United Kingdom
    Proc Natl Acad Sci U S A 87:3924-8. 1990
    Analysis of the molecular basis of dominantly inherited beta-thalassemia in four families has revealed different mutations involving exon 3 of the beta-globin gene...
  80. ncbi Thrombosis in thalassemia: why are we so concerned?
    Khaled M Musallam
    Department of Internal Medicine, Hematology Oncology Division, American University of Beirut Medical Centre, Beirut, Lebanon
    Hemoglobin 35:503-10. 2011
    Although life expectancy of thalassemia patients has markedly improved over the last few decades, patients still suffer from many complications of this congenital disease...
  81. ncbi Iron chelation in thalassemia: combined or monotherapy? The Egyptian experience
    Amal El-Beshlawy
    Faculty of Medicine, Cairo University, 32 Falaky Street, Bab El Louk, Cairo, Egypt
    Ann Hematol 87:545-50. 2008
    Patients with thalassemia major requiring regular blood transfusions accumulate iron that is toxic to the heart, liver, and endocrine systems...
  82. ncbi Evaluation of osteoporosis in thalassemia by quantitative computed tomography: is it reliable?
    S Akpek
    Department of Radiology, School of Medicine, Gazi University, Besevler, Ankara, Turkey
    Pediatr Hematol Oncol 18:111-6. 2001
    ..Other methods of BMD measurement, such as photon absorbsiometry and x-ray absorbsiometry, should also be investigated for their accuracy in this patient group...
  83. 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 (..
  84. 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...
  85. 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)...
  86. ncbi 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...
  87. doi Treatment of hepatitis C in patients with thalassemia
    Emanuele Angelucci
    Haematologica 93:1121-3. 2008
  88. ncbi 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 ..
  89. 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 ..
  90. 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...
  91. 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)...
  92. ncbi 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...
  93. 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...
  94. ncbi 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...
  95. 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.
  96. 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)...
  97. ncbi 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)...
  98. 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 ..
  99. ncbi 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 ..
  100. ncbi 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...
  101. ncbi 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...

Research Grants73

  1. Prevention of Complications in Thalassemia
    Elliott P Vichinsky; Fiscal Year: 2011
    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 ..
  2. Iron-mediated vascular disease in sickle cell disease.
    John C Wood; Fiscal Year: 2010
    ..plasma iron (LPI), may worsen intravascular hemolysis and impair endothelial function, as clearly seen in the thalassemia syndromes...
  3. Enhanced iron removal with peptide linked chelators targeted to ferritin
    Elizabeth C Theil; Fiscal Year: 2010
    ..wild type or SCD or THL, and later for clinical trials to improve the treatment of Sickle Cell Disease and Thalassemia and possibly for neurodegenerative diseases currently being considered for iron chelation therapy...
  4. Ferritin: Protein/mRNA/DNA in Fe/O Regulation/Metabolism
    ELIZABETH C contact THEIL; Fiscal Year: 2010
    ..g., HH, SCD, Thalassemia and malaria...
  5. Modifiers of hepcidin expression as new therapies for iron overload
    PAULA GOODMAN FRAENKEL; Fiscal Year: 2013
    ..by applicant): Iron overload syndromes remain important causes of heart and liver failure in patients with thalassemia or hereditary hemochromatosis, which are common genetic diseases worldwide...
  6. Neonatal Chemoselection Following Ex Vivo Gene Transfer For Hereditary Disorders
    KARIN L GAENSLER; Fiscal Year: 2012
    ..semi-allogeneic neonatal transplantation/chemoselection will be tested in a murine model of ? thalassemia. The studies we propose in these neonatal transplantation models will generate definitive data with broad ..
  7. Understand and Improve Iron Distribution and Erythropoiesis in Beta-Thalassemia
    Yelena Ginzburg; Fiscal Year: 2013
    ..Beta-thalassemia in humans is a disease associated with anemia, splenomegaly, and ineffective erythropoiesis;iron overload in ..
  8. New Investigation Initiatives for the Prevention of Complications of Thalassemia
    Ellis J Neufeld; Fiscal Year: 2011
    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...
  9. Functional analysis of mDia formins in hematopoietic stem cell engraftment and mi
    Peng Ji; Fiscal Year: 2010
    ..patients with many blood related diseases such as aplastic anemia, fanconi anemia, sickle cell anemia, beta thalassemia major, leukemia, lymphomas, multiple myeloma, and many immune deficiency disorders...
  10. Genetic correction of human beta-thalassemic induced pluripotent stem cells
    EIRINI PAPAPETROU; Fiscal Year: 2012
    ..and evaluate a gene addition strategy for autologous cell therapy of a common inherited blood disorder, ss-thalassemia major, using patient-specific iPSCs...
  11. 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-..
  12. High-Tc susceptometer to monitor transfusional iron overload (NSR device)
    Gary M Brittenham; Fiscal Year: 2012
    ..of a variety of refractory anemias that are themselves orphan disorders, including sickle-cell disease, thalassemia major (Cooley's anemia), Diamond-Blackfan anemia, aplastic anemia, pure red cell aplasia, hypoplastic and ..
  13. AKT Signaling and Oxidative Stress Regulation of Erythropoiesis
    Saghi Ghaffari; Fiscal Year: 2013
    ..Finally we will examine the potential function of FoxO3 in [unreadable]- thalassemia. Results from these studies will provide critical information on mechanisms of regulation of erythroid cell ..
  14. Globin Gene Expression during Erythroid Differentiation
    Gordon D Ginder; Fiscal Year: 2010
    ..selective molecular targets for safe therapeutic activation of fetal/embryonic globin gene expression in ?-thalassemia and sickle cell anemia...
  15. A Comparative Approach to Globin Regulation/Thalassemia
    LEONARD IRA ZON; Fiscal Year: 2012
    ..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.
  16. Nonsense Mediated RNA Decay Regulation in Erythropoiesis &Thalassemia
    LAWRENCE BENJAMIN GARDNER; Fiscal Year: 2012
    The differentiating erythroid cell, particularly in thalassemia, is exposed to severe cellular stresses including oxidative and hypoxic stress...
  17. Harmful effects of transfusion of older stored red cells: iron and inflammation
    Steven L Spitalnik; Fiscal Year: 2012
    ..to two relevant human disease settings, by studying stable patients with either sickle cell disease or beta-thalassemia who regularly receive simple transfusions...
  18. Analysis of mDia formins in hematopoietic stem cell engraftment and migration
    Peng Ji; Fiscal Year: 2013
    ..patients with many blood related diseases such as aplastic anemia, fanconi anemia, sickle cell anemia, beta thalassemia major, leukemia, lymphomas, multiple myeloma, and many immune deficiency disorders...
  19. The influence of genotype on the outcome of gene transfer in beta-thalassemia
    Stefano Rivella; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Beta-thalassemia is caused by a large spectrum of genetic mutations in the beta-globin gene...
  20. Transfusion Induced BMT Rejection
    James C Zimring; Fiscal Year: 2013
    ..BMT) is a cure for non-malignant hematological disorders, including: sickle cell disease, aplastic anemia, thalassemia major, Diamond-Blackfan Anemia and Fanconi Anemia...
  21. Cell Therapies for Cooley's Anemia
    Thomas M Ryan; Fiscal Year: 2013
    Project Summary [unreadable] thalassemia is one of the most common genetic disorders worldwide...
  22. The role of erythroferrone in iron homeostasis and in iron-loading anemias
    Tomas Ganz; Fiscal Year: 2013
    ..Determine the role of erythroferrone-1 in the pathogenesis of iron overload in [unreadable]-thalassemia Successful completion of the proposed studies would answer longstanding questions about a fundamental aspect of ..
  23. DEVELOPMENTAL BIOLOGY OF HUMAN ERYTHROPOIESIS
    Stuart H Orkin; Fiscal Year: 2013
    ..on the management ofthe major red cell disorders, ncluding the hemoglobin disorders (sickle cell anemia and p-thalassemia), as well as congenital and acquired anemias...
  24. Optimizing Tissue Iron Quantification at 3 Tesla
    John C Wood; Fiscal Year: 2013
    ..surprisingly common clinical complication, resulting from hyperabsorption, as in hereditary hemochromatosis and thalassemia intermedia, or from recurrent blood transfusions in patients with hemoglobinopathies or bone-marrow failure...
  25. Hepcidin therapy for iron overload and hematologic disorders
    Stefano Rivella; Fiscal Year: 2013
    ..by applicant): Iron overload is the main cause of morbidity and mortality in hereditary hemochromatosis, 2-thalassemia and various anemias that require chronic transfusions...
  26. Extending GWAS at the BCL11A locus to novel therapeutics for HbF induction
    Stuart H Orkin; Fiscal Year: 2010
    ..HbF is a known modifier of the severity of the major hemoglobin disorders, sickle cell anemia and beta-thalassemia. These diseases affect numerous individuals worldwide...
  27. STEM CELL GENE THERAPY FOR HEMOGLOBINOPATHIES
    George Stamatoyannopoulos; Fiscal Year: 2013
    ..The program addresses two aspects of Gene Therapy: globin gene therapy of patients with severe beta-thalassemia (thalassemia major or Cooley's anemia) using currently available lentiviral vector technologies;and the ..
  28. BASIC RESEARCH IN HEMATOLOGY AND ONCOLOGY
    Marc A Shuman; Fiscal Year: 2013
    ..to an ongoing focus on disorders affecting the hematopoietic system, such as (1) hemoglobinopathies, and thalassemia, (2) cell biology and signal transduction and differentiation of hematopoietic cells, (3) malignancies ..
  29. HRI-eIF2a Phosphorylation Signaling in Oxidative Stress and Erythropoiesis
    Jane Jane Chen; Fiscal Year: 2012
    ..kinase (HRI) signaling pathway in oxidative stress and stress erythropoiesis of chronic iron deficiency and ?-thalassemia. Our laboratory has demonstrated that HRI is necessary to reduce ineffective erythropoiesis and to maintain ..
  30. Study of bone disease in Thalassemia
    Maria G Vogiatzi; Fiscal Year: 2010
    Dr Vogiatzi is a Pediatric Endocrinologist with particular interest in the bone disease of thalassemia, a common but poorly understood problem...
  31. MicroRNAs and hematopoietic differentiation
    Harvey F Lodish; Fiscal Year: 2013
    ..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 ..
  32. MOLECULAR ANALYSIS OF A YEAST TRANSCRIPTIONAL REGULATOR
    David T Auble; Fiscal Year: 2013
    ..Defects in human Snf2/Swi2- related protein complexes are known contributors to certain cancers, Cockayne's Syndrome, alpha- thalassemia, and the most common form of X-linked mental retardation.
  33. Novel Determinants of Terminal Erythroid Maturation
    Saghi Ghaffari; Fiscal Year: 2013
    ..As inhibition of mTOR signaling improves anemia in a b-thalassemia model, we will address the potential function of autophagy in b-thalassemia...
  34. Identification of Novel Genes That Modulate Systemic Iron Homeostasis
    KARIN ELISABETH FINBERG; Fiscal Year: 2013
    ..Tmprss6 function modifies iron loading in murine models of juvenile hemochromatosis, HFE-hemochromatosis, and ?-thalassemia intermedia;and 2) Identify novel genes that, when mutated, modulate iron homeostasis in mice...
  35. REGULATORY T CELLS, MIXED CHIMERISM: A NOVEL TRANSPLANT STRATEGY FOR THALASSEMIAS
    Asha B Pillai; Fiscal Year: 2012
    ..protocol for non-myeloablative bone marrow transplantation (BMT), and to apply this strategy for treatment of thalassemia. This work proposes to further elucidate factors involved in the generation of donor regulatory CD4+CD25+ T ..
  36. HRI/elF2aP Signaling Pathway as Potential Pharmaceutical Targets for Thalassemia
    Jane Jane Chen; Fiscal Year: 2010
    ..In this proposal, we focus our efforts on the role of translational regulation in ??thalassemia. Thalassemia is the most common monogenic disease in the world, and is emerging as a major economics and health ..
  37. 5-Hydroxymethylcytosine and Globin Gene Switching
    Donald Lavelle; Fiscal Year: 2013
    ..fetal hemoglobin (HbF) levels lessen the severity of symptoms associated with sickle cell disease and beta-thalassemia and increase the quality of life and life span of patients...
  38. Training: Hematology, Immunology &Stem Cell Biology
    Frans A Kuypers; Fiscal Year: 2011
    ..research opportunities in areas funded by NIH at CHORI include: (1) clinical research in sickle cell anemia and thalassemia, (2) red cell membrane structure and function, (3) immunologic development and immune response to vaccines, (4) ..
  39. Targeted Correction of the Human Beta-globin Gene
    Peter M Glazer; Fiscal Year: 2010
    ..of ultimately generating an optimized reagent set for molecular correction of mutations associated with thalassemia and sickle cell anemia...
  40. In vivo function of macrophage in healthy and diseased erythropoiesis
    Paul S Frenette; Fiscal Year: 2013
    ..We will analyze models of erythropoietic stress such as sickle cell disease and thalassemia, the latter in collaboration with Dr. S. Rivella (Cornell)...
  41. A Controlled Clinical Trial of Regadenoson in Sickle Cell Anemia
    Donna S Neuberg; Fiscal Year: 2013
    ..In a multi-center trial at 9 institutions, we will treat 96 participants ith HbSS/HbS|3-thalassemia, ages 14 to 70 years, with a 48 hour infusion of regadenoson during a pain or ACS episode...
  42. HRI-eIF2a Phosphorylation Signaling in Oxidative Stress and Erythropoiesis
    Jane Jane Chen; Fiscal Year: 2013
    ..HRI is also essential for reducing the phenotypic severities of [unreadable]-thalassemia. Phosphorylation of eIF2[unreadable] by HRI not only inhibits translation globally, but also selectively ..
  43. 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 ..
  44. Genetic Modifiers of Beta-like Globin Gene Switching
    Luanne L Peters; Fiscal Year: 2013
    ..Of the inherited anemias, the hemoglobinopathies, particularly sickle cell disease (SCD) and [unreadable]- thalassemia, stand out due to their prevalence and severity...
  45. MOLECULAR ANALYSIS OF NORMAL AND THALASSEMIC DNA
    Stuart H Orkin; Fiscal Year: 2013
    ..any efforts to design targeted therapy for the major hemoglobin disorders--sickle cell anemia and [unreadable]-thalassemia. Despite efforts of many investigators for more than two decades, the nuclear factors that regulate globin ..
  46. Gene therapy for Cooley's anemia in a new mouse model
    Stefano Rivella; Fiscal Year: 2010
    Stem cell-based gene therapy offers a potential means to cure congenital severe hemoglobinopathies such as beta-thalassemia. For this reason we have constructed a lentiviral vector (TNS9) carrying the human beta-globin gene and ..
  47. Control of iron absorption by intestinal HIF2 in iron and hematological disorders
    Yatrik M Shah; Fiscal Year: 2013
    ..Iron overload is the main cause of mortality and morbidity in patients with hereditary hemochromatosis and beta-thalassemia. There is a need for new approaches to prevent and treat these diseases...
  48. Nanoparticle delivery of triplex-forming PNAs for thalassemia gene therapy
    NICOLE MCNEER; Fiscal Year: 2013
    ..Inherited blood disorders such as [unreadable]-thalassemia and sickle cell anemia can potentially be treated or cured through genetic manipulation of hematopoietic stem ..
  49. IRON CHELATORS PREDICATED ON DESFERRITHIOCIN
    RAYMOND JOSEPH BERGERON; Fiscal Year: 2013
    ..iron from the liver, heart, and pancreas, the organs at greatest risk of iron-induced injury in patients with thalassemia major, sickle cell disease, hereditary hemochromatosis and other forms of iron overload...
  50. Ontogeny of erythroid lineage differentiation
    James Palis; Fiscal Year: 2010
    ..These studies will improve our understanding of the causes of anemia and will ultimately lead to curative treatments for children and adults with sickle cell disease and thalassemia syndromes.
  51. Rho GTPases in Terminal Erythroid Maturation
    THEODOSIA ANASTASIOS KALFA; Fiscal Year: 2013
    ..inflammatory diseases and neoplasia and in many primary hematological processes, like myelodysplasia and thalassemia. Limited understanding of the mechanisms involved in terminal erythroid maturation impedes development of novel ..
  52. in vivo Studies of Clinical Stage Globin Modulators
    SUSAN PARK PERRINE; Fiscal Year: 2011
    ..increase in HbF reduces the severity of sickle cell disease, or reduces the life-threatening anemia of 2-thalassemia. Pharmacologic augmentation of fetal hemoglobin (3-globin chain) production, to replace the defective or ..
  53. Prevention of Complications of Thalassemia
    Patricia J Giardina; Fiscal Year: 2011
    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 ..
  54. Mutually Exclusive Odorant Receptor Regulation
    Robert P Lane; Fiscal Year: 2013
    ..g., Beckwith-Wiedemann syndrome), oncogenic transformation, and other genetic disorders (e.g., Thalassemia) are associated with perturbation of normal chromatin states...
  55. Niacin therapy to improve endothelial function in Sickle Cell Disease
    NAOMI L LUBAN; Fiscal Year: 2011
    ..Thirty-five adult patients with Hb SS or SbO-thalassemia will be enrolled...
  56. REGULATION AND FUNCTION OF A HUMAN EMBRYONIC GLOBIN
    J Eric Russell; Fiscal Year: 2012
    ..proposal continues a highly productive program that is committed to developing new therapeutic strategies for thalassemia and sickle cell disease utilizing endogenous or exogenous genes encoding human embryonic globins...
  57. FLVCR protein trafficking and the regulation of heme export
    JOHN GERARD QUIGLEY; Fiscal Year: 2010
    ..of expression of the heme exporter, FLVCR may be of relevance to a wide range of human diseases, in particular those characterized by hemolysis, such as Sickle cell disease, thalassemia. and malaria, or by cellular iron overload...
  58. Transcriptional Control of Hemoglobin Synthesis
    Emery H Bresnick; Fiscal Year: 2013
    ..underlie congenital erythropoietic porphyria, X- linked grey platelet syndrome, and thrombocytopenia with ?-thalassemia afect GATA-1 activity...
  59. Epigenetic regulation of BCL11A in the hemoglobin switch
    DANIEL EVAN BAUER; Fiscal Year: 2013
    ..This switch is of critical pathophysiologic significance for sickle cell disease and 2-thalassemia, as persistent elevations of fetal hemoglobin (HbF) levels ameliorate these diseases...
  60. Hematopoietic Cell Therapy for Young Adults with Severe Sickle Cell Disease
    Mark C Walters; Fiscal Year: 2013
    ..profile and appears effective in HCT from unrelated donors in adults who have advanced myeloid malignancies and thalassemia major...
  61. Inactivation of LSD1 as a possible treatment for sickle cell disease
    James Douglas Engel; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Sickle cell disease (SCD) and b-thalassemia together comprise the most commonly inherited diseases in man. The only current therapy for SCD is treatment with hydroxyurea (HU)...
  62. Regulation of erythropoiesis by the miR-144/451 microRNA locus
    Mitchell J Weiss; Fiscal Year: 2013
    ..during disease-related stresses including blood loss, iron deficiency, and unbalanced hemoglobin production (thalassemia)...
  63. 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...
  64. 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...
  65. 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...
  66. 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 ..
  67. 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 ..
  68. 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 ..
  69. 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...
  70. 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 ..
  71. 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...
  72. 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...
  73. 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,..