Genomes and Genes
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.
Publications254 found, 100 shown here
- MRI R2 and R2* mapping accurately estimates hepatic iron concentration in transfusion-dependent thalassemia and sickle cell disease patientsJohn 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...
- High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidinToshihiko 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. 2007In thalassemia, deficient globin-chain production during erythropoiesis results in anemia...
- Iron overload in thalassemia and related conditions: therapeutic goals and assessment of response to chelation therapiesJohn 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...
- Quality of life in thalassemia: a comparison of SF-36 results from the thalassemia longitudinal cohort to reported literature and the US normsA Sobota
Children s Hospital Boston, Massachusetts, USA
Am J Hematol 86:92-5. 2011b>Thalassemia is a chronic, inherited blood disorder, which, in its most severe form, causes life-threatening anemia...
- Myocardial T*2 measurement in iron-overloaded thalassemia: an ex vivo study to investigate optimal methods of quantificationTaigang 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...
- Attitudes towards prenatal diagnosis and termination of pregnancy for thalassaemia in pregnant Pakistani women in the North of EnglandShenaz 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...
- Psychological problems and quality of life in children with thalassemiaD Shaligram
Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bangalore, India
Indian J Pediatr 74:727-30. 2007The study is aimed to assess psychological problems and quality of life (QOL) in children with thalassemia.
- Effect of deferiprone on liver iron overload and fibrosis in hepatitis-C-virus-infected thalassemiaAn 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...
- Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studiesGeorge 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...
- High nontransferrin bound iron levels and heart disease in thalassemia majorAntonio 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 ..
- Differential regulation of redox proteins and chaperones in HbEβ-thalassemia erythrocyte proteomeDipankar Bhattacharya
Structural Genomics Section, Saha Institute of Nuclear Physics, Kolkata, India
Proteomics Clin Appl 4:480-8. 2010In (hemoglobin, Hb) HbEβ-thalassemia, HbE (β-26 Glu→Lys) interacts with β-thalassemia to produce clinical manifestation of varying severity...
- Thalassemia as a global health problem: recent progress toward its control in the developing countriesD 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...
- Paraspinal extramedullary hematopoiesis in patients with thalassemia intermediaRachid 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. 2010Ineffective erythropoiesis in patients with thalassemia intermedia drives extramedullary hematopoietic tumor formation in several parts of the body...
- The definition and epidemiology of non-transfusion-dependent thalassemiaDavid 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...
- Deferasirox reduces iron overload significantly in nontransfusion-dependent thalassemia: 1-year results from a prospective, randomized, double-blind, placebo-controlled studyAli T Taher
American University of Beirut, Beirut, Lebanon
Blood 120:970-7. 2012Nontransfusion-dependent thalassemia (NTDT) patients may develop iron overload and its associated complications despite receiving only occasional or no transfusions...
- Molecular detection method for all known genotypes of TT virus (TTV) and TTV-like viruses in thalassemia patients and healthy individualsYu Wen Hu
Canadian Blood Services, 1800 Alta Vista Drive, Ottawa, Ontario, Canada K1G 4J5
J Clin Microbiol 43:3747-54. 2005
- Identification of two new synthetic histone deacetylase inhibitors that modulate globin gene expression in erythroid cells from healthy donors and patients with thalassemiaAntonello 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 ..
- Activated peripheral blood and endothelial cells in thalassemia patientsD S Kyriakou
Department of Hematology, University Hospital of Heraklion, Crete, Greece
Ann Hematol 80:577-83. 2001b>Thalassemia patients have alterations in the expression of some activation and adhesion molecules on peripheral blood lymphocytes...
- Premarital screening for thalassemia and sickle cell disease in Saudi ArabiaNasser Abdulrahman Alhamdan
Non Communicable Disease Program, Ministry of Health, Kingdom of Saudi Arabia
Genet Med 9:372-7. 2007To 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.
- Type 1 regulatory T cells are associated with persistent split erythroid/lymphoid chimerism after allogeneic hematopoietic stem cell transplantation for thalassemiaGiorgia Serafini
Mediterranean Institute of Hematology, IME Foundation, Policlinico di Tor Vergata, Rome, Italy
Haematologica 94:1415-26. 2009b>Thalassemia major can be cured with allogeneic hematopoietic stem cell transplantation...
- Iranian national thalassaemia screening programmeAshraf Samavat
Genetics Office, Disease Management Centre, Ministry of Health and Medical Education, Tehran, Iran
BMJ 329:1134-7. 2004
- Physical growth patterns and dental caries in thalassemiaSunil 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...
- Advances in management of thalassemiaM B Agarwal
Department of Hematology, Bombay Hospital Institute of Medical Sciences, Mumbai, India
Indian J Pediatr 76:177-84. 2009Thalassemias 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...
- Postmarital follow-up survey on high risk patients subjected to premarital screening program in Saudi ArabiaAyman 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...
- Current status of thalassemia in minority populations in Guangxi, ChinaH F Pan
Division of Human Genetics, Department of Pediatrics, University of California, Irvine, CA 92697, USA
Clin Genet 71:419-26. 2007b>Thalassemia is one of the most common monogenic disorders in the world...
- Thalassemia in Bombay: the role of medical genetics in developing countriesB 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...
- International reproducibility of single breathhold T2* MR for cardiac and liver iron assessment among five thalassemia centersPaul 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...
- Prevalence of hepatitis C virus infection in thalassemia and haemodialysis patients in north Iran-RashtM M Ansar
Biochemistry Department, Rasht Medical Faculty, Gilan, Iran
J Viral Hepat 9:390-2. 2002Hepatitis 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...
- Distribution of hepatitis C virus genotype in Iranian multiply transfused patients with thalassemiaSeyed Moayed Alavian
Baqiyatallah University of Medical Sciences, Research Center for Gastroenterology and Liver Disease, Baqiyatallah Hospital, Tehran, Iran
Transfusion 49:2195-9. 2009Hepatitis 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.
- Evaluation of a web-based network for reproducible T2* MRI assessment of iron overload in thalassemiaA Meloni
MRI Laboratory, G Monasterio Foundation and Institute of Clinical Physiology, CNR, Via Moruzzi 1, Pisa, Italy
Int J Med Inform 78:503-12. 2009To 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.
- Cord compression due to extramedullary hemopoiesis in a patient with thalassemiaS K Lau
Department of Orthopaedics and Traumatology, Queen Elizabeth Hospital, Kowloon, Hong Kong
Spine (Phila Pa 1976) 19:2467-70. 1994STUDY 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...
- Feasibility of thalassaemia control by extended family screening in Indian contextAnita 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...
- Increased circulating activated endothelial cells, vascular endothelial growth factor, and tumor necrosis factor in thalassemiaPunnee 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 ..
- Development of a measure of informed choice suitable for use in low literacy populationsElizabeth 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...
- Decision-making in adult thalassemia patients undergoing unrelated bone marrow transplantation: quality of life, communication and ethical issuesG Caocci
Unità operativa Centro Trapianti di Midollo Osseo, P O R Binaghi, Cagliari, Italy
Bone Marrow Transplant 37:165-9. 2006Bone 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 ..
- Effects of iron overload and hepatitis C virus positivity in determining progression of liver fibrosis in thalassemia following bone marrow transplantationEmanuele 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...
- The influence of faith and religion and the role of religious and community leaders in prenatal decisions for sickle cell disorders and thalassaemia majorShenaz Ahmed
Academic Unit of Psychiatry and Behavioural Sciences, University of Leeds, Leeds, UK
Prenat Diagn 26:801-9. 2006....
- 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...
- Randomized trial of two different conditioning regimens for bone marrow transplantation in thalassemia--the role of busulfan pharmacokinetics in determining outcomeM Chandy
Department of Hematology, Christian Medical College, Vellore, India
Bone Marrow Transplant 36:839-45. 2005In 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 (..
- Health care transition in thalassemia: pediatric to adult-oriented careLaurice Levine
Department of Hematology Oncology, Children s Hospital and Research Center Oakland, Oakland, California, USA
Ann N Y Acad Sci 1202:244-7. 2010Improved 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 ..
- Treatment of hepatitis C in patients with thalassemiaEmanuele Angelucci
Haematologica 93:1121-3. 2008
- T2* magnetic resonance and myocardial iron in thalassemiaDudley 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)...
- Detection of human erythrocytes influenced by iron deficiency anemia and thalassemia using atomic force microscopyYuping Zhang
Department of Hematology, Guangzhou First Municipal People s Hospital Affiliated to Guangzhou Medical College, Guangzhou 510180, PR China
Micron 43:1287-92. 2012Iron 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...
- Absence of cardiac siderosis despite hepatic iron overload in Italian patients with thalassemia intermedia: an MRI T2* studyAlberto Roghi
Cardiac MR Unit, De Gasperis Department of Cardiology, Niguarda Ca Granda Hospital, Milan, Italy
Ann Hematol 89:585-9. 2010Cardiac 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...
- Osteopenia-osteoporosis syndrome in patients with thalassemia: understanding of type of bone disease and response to treatmentRatna 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...
- Intersite validations of the pixel-wise method for liver R2* analysis in transfusion-dependent thalassemia patients: a more accessible and affordable diagnostic technologyPairash Saiviroonporn
Department of Radiology, Mahidol University, Bangkok, Thailand
Hematol Oncol Stem Cell Ther 5:91-5. 2012MRI-R2* has been accepted as a clinical tool for monitoring iron overload in thalassemia patients, especially for monitoring liver iron concentration (LIC)...
- Survival and complications in patients with thalassemia major treated with transfusion and deferoxamineCaterina 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...
- Removal of erythrocyte membrane iron in vivo ameliorates the pathobiology of murine thalassemiaP V Browne
Department of Medicine, University of Minnesota Medical School, Minneapolis, Minnesota 55455, USA
J Clin Invest 100:1459-64. 1997Abnormal 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 ..
- A prospective study of hepatocellular carcinoma incidence in thalassemiaAndrea Mancuso
II Divisione di Ematologia, Ospedale V Cervello, Palermo, Italia
Hemoglobin 30:119-24. 2006Hepatocellular 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)...
- Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of KurdistanD Rund
Department of Hematology, Hadassah University Hospital, Jerusalem, Israel
Proc Natl Acad Sci U S A 88:310-4. 1991beta-Thalassemia is a hereditary disease caused by any of 90 different point mutations in the beta-globin gene...
- Graft rejection after unrelated donor hematopoietic stem cell transplantation for thalassemia is associated with nonpermissive HLA-DPB1 disparity in host-versus-graft directionKatharina 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...
- Non-transferrin bound iron in Thalassemia: differential detection of redox active forms in children and older patientsWilliam 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...
- Iron overload in thalassaemia intermedia: reassessment of iron chelation strategiesAli 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...
- How I treat thalassemiaEliezer 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...
- Elevated serum transferrin receptor levels in common types of thalassemia heterozygotes in Southeast Asia: a correlation with genotypes and red cell indicesNoppacharn 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...
- Magnetic resonance imaging assessment of excess iron in thalassemia, sickle cell disease and other iron overload diseasesJohn 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...
- Fracture prevalence and relationship to endocrinopathy in iron overloaded patients with sickle cell disease and thalassemiaEllen B Fung
Department of Hematology at the Children s Hospital and Research Center, Oakland, CA, USA
Bone 43:162-8. 2008Transfusional iron overload leads to gonadal failure and low bone mass in patients with thalassemia (Thal)...
- The role of reduced intensity preparative regimens in patients with thalassemia given hematopoietic transplantationAlice 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)...
- The role of antioxidants and iron chelators in the treatment of oxidative stress in thalassemiaEitan 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...
- The prevalence and spectrum of thalassemia in Shenzhen, Guangdong Province, People's Republic of ChinaZesong Li
Shenzhen YiShengTang Biological Products Co Ltd, Shenzhen, Guangdong, People s Republic of China
Hemoglobin 30:9-14. 2006b>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...
- Thalassemia: an overview of 50 years of clinical researchVijay 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...
- Treatment options for thalassemia patients with osteoporosisEvangelos Terpos
Department of Clinical Therapeutics, University of Athens School of Medicine, Athens, Greece
Ann N Y Acad Sci 1202:237-43. 2010Osteoporosis 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 ..
- A cost-utility and budget impact analysis of allogeneic hematopoietic stem cell transplantation for severe thalassemic patients in ThailandPattara 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.
- Iron metabolism in heterozygotes for hemoglobin E (HbE), alpha-thalassemia 1, or beta-thalassemia and in compound heterozygotes for HbE/beta-thalassemiaMichael B Zimmermann
Laboratory for Human Nutrition, Swiss Federal Institute of Technology Zurich, Zurich, Switzerland
Am J Clin Nutr 88:1026-31. 2008Despite 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.
- Clinical and hematological responses to hydroxyurea in Sicilian patients with Hb S/beta-thalassemiaP 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 ..
- Hemoglobinization and functional availability of iron for erythropoiesis in case of thalassemia and iron deficiency anemiaPiet 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...
- Getting the iron out: preventing and treating heart failure in transfusion-dependent thalassemiaDanish A Jabbar
Department of Internal Medicine, Saint Luke s Hospital, Saint Louis, MO 63017, USA
Cleve Clin J Med 74:807-10, 813-6. 2007Congestive 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...
- Clinical efficacy and safety evaluation of tailoring iron chelation practice in thalassaemia patients from Asia-Pacific: a subanalysis of the EPIC study of deferasiroxVip 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...
- Molecular analysis of alpha/beta-thalassemia in a southern Chinese populationBang 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. 2007b>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...
- Influence of myocardial fibrosis and blood oxygenation on heart T2* values in thalassemia patientsAntonella Meloni
MRI Laboratory, Institute of Clinical Physiology, G Monasterio Foundation, Pisa, Italy
J Magn Reson Imaging 29:832-7. 2009To determine whether T2* measurements quantifying myocardial iron overload in thalassemia patients are influenced by myocardial fibrosis and blood oxygenation.
- Septic shock caused by Plesiomonas shigelloides in a patient with sickle beta-zero thalassemiaMaria 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...
- Iron chelation adherence to deferoxamine and deferasirox in thalassemiaFelicia Trachtenberg
New England Research Institutes, 9 Galen Street, Watertown, MA 02472, USA
Am J Hematol 86:433-6. 2011The Thalassemia Clinical Research Network collected adherence information from 79 patients on deferoxamine and 186 on deferasirox from 2007 to 2009...
- Which psychosocial factors are related to chelation adherence in thalassemia? A systematic reviewMichael Evangeli
Department of Psychology, Royal Holloway, University of London, Egham, Surrey, UK
Hemoglobin 34:305-21. 2010Good adherence to iron chelation therapy in thalassemia is crucial...
- Iron overload in non-transfusion-dependent thalassemia: a clinical perspectiveKhaled 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...
- Effects of chelators (deferoxamine, deferiprone and deferasirox) on the growth of Klebsiella pneumoniae and Aeromonas hydrophila isolated from transfusion-dependent thalassemia patientsGodfrey 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. 2009Infections 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)...
- Comparative efficacy of desferrioxamine, deferiprone and in combination on iron chelation in thalassemic childrenSunil 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...
- Detection of known thalassemia point mutations by snapback single-strand conformation polymorphism: the feasibility analysisWei 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. 2006To explore if snapback single-strand conformation polymorphism (snapback SSCP) can be applied to the detection of known thalassemia point mutations.
- [Clinical management of thalassemia in adults]Andre Tichelli
Diagnostische Hämatologie, Universitatsspital Basel, Basel
Ther Umsch 67:237-43. 2010The clinical management of patients with thalassemia has changed in the last 40 years...
- Incidence of haemoglobinopathies detected through neonatal screening in the United Arab EmiratesH 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...
- 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 ..
- Stem cell transplantation in IndiaM 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 ..
- Measuring chromosome breaks in patients with thalassemiaTal Offer
Children s Hospital Oakland Research Institute, Oakland, CA 94609, USA
Ann N Y Acad Sci 1054:439-44. 2005Iron-mediated oxidative stress plays an important role in the pathophysiology of thalassemia. Oxidative stress can cause lesions in DNA, including double-strand breaks...
- A novel frameshift mutation (+A) at codon 18 of the beta-globin gene associated with high persistence of fetal hemoglobin phenotype and deltabeta-thalassemiaGiordana Feriotto
GenTech for Thal, Department of Biochemistry and Molecular Biology, Ferrara University, Ferrara, Italy
Acta Haematol 119:28-37. 2008We 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 ..
- Craniofacial deformities in transfusion-dependent thalassemia patients in Malaysia: prevalence and effect of treatmentHeba 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...
- Deferasirox: the new oral iron chelatorA 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...
- Sickle cell disease in SudanR 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...
- Effectiveness of earlier antenatal screening for sickle cell disease and thalassaemia in primary care: cluster randomised trialElizabeth 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...
- 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...
- Major challenges for gene therapy of thalassemia and sickle cell diseaseEleni 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...
- Septic arthritis as the initial manifestation of fatal Vibrio vulnificus septicemia in a patient with thalassemia and iron overloadChang 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...
- Transplantation of unrelated donor umbilical cord blood utilizing double-unit grafts for five teenagers with transfusion-dependent thalassemiaT 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...
- Haemoglobin Q India (alpha 64(E13) aspartic acid histidine) associated with beta-thalassemia observed in three Sindhi familiesP K Sukumaran
J Med Genet 9:436-42. 1972
- Redefining thalassemia as a hypercoagulable stateM Domenica Cappellini
Universita di Milano, Policlinico Foundation IRCCS, Milan, Italy
Ann N Y Acad Sci 1202:231-6. 2010As the life expectancy of beta-thalassemia patients has markedly improved over the last decade, several new complications are being recognized...
- Molecular characterization of seven beta-thalassemia mutations in Asian IndiansH H Kazazian
EMBO J 3:593-6. 1984To 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...
- 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 variantPiero 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 ..
- Transfusion-transmitted virus prevalence in Turkish patients with thalassemiaEmel 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...
- Enhanced erythrocyte apoptosis in sickle cell anemia, thalassemia and glucose-6-phosphate dehydrogenase deficiencyKarl S Lang
Department of Physiology, University of Tuebingen, Germany
Cell Physiol Biochem 12:365-72. 2002Erythrocyte diseases such as sickle cell anemia, thalassemia and glucose-6-phosphate dehydrogenase deficiency decrease the erythrocyte life span, an effect contributing to anemia...
- Alloimmunization among patients with transfusion-dependent thalassemia in TaiwanL Y Wang
Division of Pediatric Hematology Oncology, Mackay Memorial Hospital, Taipei, Taiwan
Transfus Med 16:200-3. 2006The 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 ..
- Relationship of magnetic resonance imaging estimation of myocardial iron to left ventricular systolic and diastolic function in thalassemiaBenedetta Leonardi
Department of Cardiology, Children s Hospital Boston, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115, USA
JACC Cardiovasc Imaging 1:572-8. 2008We 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.
- Evaluation of growth, puberty and endocrine dysfunctions in relation to iron overload in multi transfused Indian thalassemia patientsRashid 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...
- Prevention of overwhelming postsplenectomy infection in thalassemia patients by partial rather than total splenectomyAnwar 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...
- MOLECULAR ANALYSIS OF NORMAL AND THALASSEMIC DNAStuart 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 ..
- Transfusion Induced BMT RejectionJames 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...
- AKT Signaling and Oxidative Stress Regulation of ErythropoiesisSaghi Ghaffari; Fiscal Year: 2010..is critical for devising targeted treatments for a number of erythroid disorders including erythroleukemias, thalassemia s, and polycythemia vera...
- AKT Signaling and Oxidative Stress Regulation of ErythropoiesisSaghi Ghaffari; Fiscal Year: 2009..is critical for devising targeted treatments for a number of erythroid disorders including erythroleukemias, thalassemia s, and polycythemia vera...
- Cell Therapies for Cooley's AnemiaThomas Ryan; Fiscal Year: 2009b>thalassemia is one of the most common genetic disorders worldwide. Homozygous ? thalassemia major, or Cooley's Anemia (CA), is characterized by the complete absence of the ?-globin polypeptide chains of hemoglobin...
- Cell Therapies for Cooley's AnemiaThomas M Ryan; Fiscal Year: 2010b>thalassemia is one of the most common genetic disorders worldwide. Homozygous ? thalassemia major, or Cooley's Anemia (CA), is characterized by the complete absence of the ?-globin polypeptide chains of hemoglobin...
- PARVOVIRUS VECTORS FOR HUMAN GENE THERAPYArun Srivastava; Fiscal Year: 2004Human hemoglobinopathies, such as beta-thalassemia and sickle-cell disease, are among the likely diseases amenable to gene therapy...
- PARVOVIRUS VECTORS FOR HUMAN GENE THERAPYArun Srivastava; Fiscal Year: 2003Human hemoglobinopathies, such as beta-thalassemia and sickle-cell disease, are among the likely diseases amenable to gene therapy...
- Harmful effects of transfusion of older stored red cells: iron and inflammationSteven 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...
- A QTL for fetal hemoglobin and F cells on chromosome 8qSwee Thein; Fiscal Year: 2003Current treatment for Sickle cell disease (SCD) and beta thalassemia is, at best, symptomatic involving blood transfusions, the use of drugs to remove iron and to control pain, and in cases with HLA-compatible siblings, bone marrow ..
- Stem Cell Transplantation for Hemoglobinopathies in DogsJOHN 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 ..
- Modulation of Iron Deposition in SCD and Other HemoglobinopathiesELLIOTT P contact VICHINSKY; Fiscal Year: 2010In thalassemia major (TM), the complications of transfusional iron (Fe) overload and the benefits of chelation therapy are well defined...
- Modulation of Iron Deposition in SCD and Other HemoglobinopathiesElliott Vichinsky; Fiscal Year: 2009In thalassemia major (TM), the complications of transfusional iron (Fe) overload and the benefits of chelation therapy are well defined...
- Characterization of a alpha-globin chaperone proteinMitchell Weiss; Fiscal Year: 2006Recent 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 ..
- REGULATION OF FETAL AND ADULT HUMAN HEMOGLOBIN PRODTIMOTHY 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 ..
- MR of Heart Iron: T2*/T2 Calibration & ApplicationDudley Pennell; Fiscal Year: 2006Beta-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 ..
- Cell Therapies for Cooley's AnemiaThomas Ryan; Fiscal Year: 2006Cooley's anemia (CA) will be cured in an animal model of beta thalassemia major by therapeutic cloning, genome modification, and replacement cell therapy Therapeutic cloning will be used to derive primary beta/0 thalassemic embryonic ..
- CORD BLOOD COLLECTION DEVICERICHARD MEYST; Fiscal Year: 2007Although 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 the nearly ..
- Mechanism and Significance of Nonsense Mediated RNA Decay Regulation in ErythropoLAWRENCE BENJAMIN GARDNER; Fiscal Year: 2010The differentiating erythroid cell, particularly in thalassemia, is exposed to severe cellular stresses including oxidative and hypoxic stress...