Cooley's Anaemia Symposium, 7th [Kietas viršelis]

Preface xiii A. R. Cohen Thalassemia in the Next Millennium: Keynote Address 1(9) D. J. Weatherall Part I. Globin Gene Expression and Regulation A. Cis Control Developmental Control of &epsis;- and γ- Globin Genes 10(8) G. Stamatoyannopoulos The Dynamics of β-Globin Gene Transcription 18(10) F. F. Grosveld E. De Boer J. Gribnau T. Trimborn M. Wijgerde P. Fraser β-YAC Transgenic Mice for Studying LCR Function 28(10) K. R. Peterson P. A. Navas G. Stamatoyannopoulos Molecular Basis of Hereditary Persistence of Fetal Hemoglobin 38(7) B. G. Forget Reduced β -Globin Gene Expression in Adult Mice Containing Deletions of Locus Control Region 5 HS-2 or 5 HS-3 45(9) T. J. Ley B. Hug S. Fiering E. Epner M. A. Bender M. Groudine Expression and Developmental Control of the Human α-Globin Gene Cluster 54(10) S. A. Liebhaber J. E. Russell B. Transcriptional Control Transcriptional Factors for Specific Globin Genes 64(6) J. J. Bieker Silencing and Activation of Embryonic Globin Gene Expression 70(10) G. D. Ginder R. Singal J. A. Little N. Dempsey R. Ferris S. Z. Wang C. Pharmacologic Induction of Fetal Hemoglobin Hemoglobin Switching Protocols in Thalassemia: Experience with Sodium Phenylbutyrate and Hydroxyurea 80(7) G. J. Dover Cellular and Molecular Effects of a Pulse Butyrate Regimen and New Inducers of Globin Gene Expression and Hematopoiesis 87(13) T. Ikuta G. Atweh V. Boosalis G. L. White S. Da Fonseca M. Boosalis D. V. Faller S. P. Perrine Elimination of Transfusions through Induction of Fetal Hemoglobin Synthesis in Cooleys Anemia 100(10) N. F. Olivieri D. C. Rees G. D. Ginder S. L. Thein J. S. Waye L. Chang G. M. Brittenham D. J. Weatherall Butyrate Trials 110(10) M. D. Cappellini G. Graziadei L. Ciceri A. Comino P. Bianchi M. Pomati G. Fiorelli Hydroxyurea Therapy in Thalassemia 120(9) D. Loukopoulos E. Voskaridou A. Stamoulakatou Y. Papassotiriou V. Kalotychou A. Loutradi G. Cozma H. Tsiarta N. Pavlides The Role of Recombinant Human Erythropoietin in the Treatment of Thalassemia 129(10) E. A. Rachmilewitz M. Aker Part II. Gene Transfer Improved Amphotropic Retrovirus-mediated Gene Transfer into Hematopoietic Stem Cells 139(12) D. M. Bodine C. E. Dunbar L. J. Girard N. E. Seidel A. P Cline R. E. Donahue D. Orlic Retroviral Vectors Aimed at the Gene Therapy of Human β-Globin Gene Disorders 151(12) R. Pawliuk T. Bachelot H. Raftopoulos C. Kalberer R. K. Humphries A. Bank P. Leboulch Targeted Integration of a Recombinant Adeno-Associated Viral Globin Gene Vector into Human Chromosome 19 163(15) J. Bertran Y. Yang P. Hargrove E. F. Vanin A. W. Nienhuis High-Level Transfer and Long-Term Expression of the Human β-Globin Gene in a Mouse Transplant Model 178(13) H. Raftopoulos M. Ward A. Bank Part III. Clinical Management of Cooleys Anemia and Its Complications Pathophysiology of Iron Overload 191(11) C. Hershko G. Link I. Cabantchik The Origin of the Differences in (R)- and (S)-Desmethyldesferrithiocin: Iron Clearing Properties 202(15) R. J. Bergeron J. Wiegand K. Ratliff-Thompson W. R. Weimar Long-term Trials of Deferiprone in Cooleys Anemia 217(6) N. F. Olivieri G. M. Brittenham A Multi-Center Safety Trial of the Oral Iron Chelator Deferiprone 223(4) A. Cohen R. Galanello A. Piga C. Vullo Survival and Disease Complications in Thalassemia Major 227(5) C. Borgna-Pignatti S. Rugolotto P. De Stefano A. Piga F. Di Gregorio M. R. Gamberini V. Sabato C. Melevendi M. D. Cappellini G. Verlato New Approaches to the Management of Hepatitis and Endocrine Disorders in Cooleys Anemia 232(10) B. Wonke A. V. Hoffbrand P. Bouloux C. Jensen P. Telfer Diagnosis and Management of Iron-induced Heart Disease in Cooleys Anemia 242(9) M. Jessup C. S. Manno Global Epidemiology of Hemoglobin Disorders 251(19) M. Angastiniotis B. Modell Part IV. Transplantation for Thalassemia Bone Marrow Transplantation in Thalassemia: The Experience of Pesaro 270(6) G. Lucarelli M. Galimberti C. Giardini P. Polchi E. Angelucci D. Baronciani B. Erer D. Gaziev Current and Future Preparative Regimens for Bone Marrow Transplantation in Thalassemia 276(12) R. Storb C. Yu H. J. Deeg G. Georges H.-P. Kiem P. A. McSweeney R. A. Nash B. M. Sandmaier K. M. Sullivan J. L. Wagner M. C. Walters Treatment of Iron Overload in the ``Ex-Thalassemic: Report from the Phlebotomy Program 288(6) E. Angelucci P. Muretto G. Lucarelli M. Ripalti D. Baronciani B. Erer M. Galimberti M. Annibali C. Giardini D. Gaziev S. Rapa P. Polchi Late Effects of Bone Marrow Transplantation for Thalassemia 294(6) A. Piga F. Longo V. Vol S. Facello R. Miniero B. Dresow In Utero Transplantation for Thalassemia 300(12) A. W. Flake E.D. Zanjani Unrelated and HLA-Nonidentical Related Donor Marrow Transplantation for Thalassemia and Leukemia: A Combined Report from the Seattle Marrow Transplant Team and the International Bone Marrow Transplant Registry 312(13) K. M. Sullivan C. Anasetti M. Horowitz P. A. Rowlings E. W. Petersdorf P. J. Martin R. A. Clift M. C. Walters T. Gooley J. Sierra J. E. Anderson J. Bjerke M. Siadak M. E. D. Flowers R. A. Nash J. E. Sanders F. R. Appelbaum R. Storb J. A. Hansen Part V. Thalassemia Intermedia Relationship between Genotype and Phenotype: Thalassemia Intermedia 325(9) R. Galanello A. Cao The Hemoglobin E Syndromes 334(10) D. C. Rees L. Styles E. P. Vichinsky J. B. Clegg D. J. Weatherall The Morbidity of Bone Disease in Thalassemia 344(5) E. P. Vichinsky Part VI. Psychosocial Aspects of Thalassemia The Psychosocial Impact of Chronic Disease 349(6) C. Politis Psychosocial Integration of Adolescents and Young Adults with Thalassemia Major 355(6) A. Di Palma C. Vullo B. Zani A. Facchini Future Orientation and Life Expectations of Adolescents and Young Adults with Thalassemia Major 361(9) S. Bush F. S. Mandel P.-J. Giardina Patient Psychosocial Perspectives 370(4) G. Potenza R. Cazzetta Summary of the Seventh Cooleys Anemia Symposium 374(3) D. G. Nathan Poster Presentations Molecular Biology 5 HS1 and the Distal β-Globin Promoter Functionally Interact in Single Copy β-Globin Transgenic Mice 377(5) P. Pasceri D. Pannell X. Wu J. Ellis An in Vitro Model of Human Erythropoiesis for the Study of Hemoglobinopathies 382(4) P. Malik L. W. Barsky T. C. Fisher Full Developmental Silencing of the Embryonic ξ-Globin Gene Reflects Instability of Its mRNA 386(5) J. E. Russell A. E. Lee S. A. Liebhaber Red Blood Cells RBC Adhesion to Cremaster Endothelium in Mice with Abnormal Hemoglobin Is Increased by Topical Endotoxin 391(3) X-W. Liu S. S. Pierangeli J. Barker T. M. Wick L. L. Hsu Enhancement by Ubiquitin Aldehyde of Proteolysis of Hemoglobin α-Subunits in β-Thalassemic Hemolysates 394(4) J. R. Shaeffer R. E. Cohen Genotype/Phenotype, Screening, and Diagnostic Considerations An α-2 Globin Gene Initiation Codon Mutation in a Vietnamese Patient with Hb H Disease 398(3) F. Kutlar T. V. Adamkiewicz R. B. Markowitz L. Holley A. Kutlar The Montreal Thalassemia Screening Program: Response of the High School Students 401(3) A. Capua Spectrum of β-Thalassemia Mutations in Oman 404(3) S. Daar H. M. Hussein T. Merghoub R. Krishnamoorthy Molecular Basis of β-Thalassemia in Bahrain: An Epicenter for a Middle East Specific Mutation 407(3) N. Jassim T. Merghoub O. Pascaud H. Al Mukharraq R. Ducrocq D. Labie J. Elion R. Krishnamoorthy S. Al Arrayed Hemoglobin E/β Thalassemia: The Canadian Experience 410(2) M. Fouladi M. L. MacMillan E. Nisbet-Brown N. Klein J. Barlas J. S. Waye N. F. Olivieri α- And β-Thalassemia in Thailand 412(3) S. Fucharoen P. Winichagoon N. Siritanaratkul J. Chowthaworn P. Pootrakul Homozygous Hemoglobin Constant Spring with Normal Electrophoresis: A Possible Cause for Under Diagnosis 415(5) L. Krishnamurti J. A. Little Audit of Prenatal Diagnosis for Hemoglobin Disorders in the United Kingdom: The First Twenty Years 420(3) B. Modell M. Petrou M. Layton L. Varnavides C. Moisely R. H. T. Ward C. Rodeck K. Nicolaides A. Fitches J. Old Spectrum of β-Thalassemia Mutations in Guadeloupe (French West Indies) and Interactions with Other Hemoglobinopathies 423(3) M. Romana L. Keclard A. Froger C. Berchel G. Merault α-Globin Mutations and Rearrangements in Israel: PCR-Based Analysis Reveals Ethnic Diversity 426(3) D. Rund V. Oron-Karni D. Filon A. Oppenheim Correlation of ξ-Globin ELISA with PCR for (- -SEA) Deletion and Clinical Diagnosis for α- Thal-1 Trait 429(3) R. A. Simkins K.-A. Than B. Schapiro E. S. Choi P. R. Daoust The Diverse Molecular Basis and Mild Clinical Picture of HbH Disease in Israel 432(4) H. Tamary G. Klinger L. Shalmon H. Kirschmann A. Koren M. Bennet R. Zaizov Phenotypic Prediction in β-Thalassemia 436(6) P J. Ho G. W. Hall L. Y. Luo D. J. Weatherall S. L. Thein The Impact of Asian Immigration on Thalassemia in California 442(4) F. Lorey G. Cunningham Fetal Hemoglobin Detection of Fetal Hemoglobin in Erythrocytes by Flow Cytometry 446(3) T. A. Campbell R. E. Ware M. Mason Hydroxyurea and Hemin Affect Both the Transcriptional and Post-Transcriptional Mechanisms of Some Globin Genes in Human Adult Erythroid Cells 449(3) P. Kollia E. Fibach M. Politou C. T. Noguchi A. N. Schechter D. Loukopoulos Treatment of Two Infants with Cooleys Anemia with Sodium Phenylbutyrate 452(3) M. L. MacMillan M. Fouladi E. Nisbet-Brown J. S. Waye N. F. Olivieri Erythropoietin Level and Effect of rHuEPO in β-Thalassemic Mice 455(4) R. A. Popp S. G. Shinpock D. M. Popp G. K. Clemons D. B. Van Wyck Increase in Hemoglobin Concentration during Therapy with Hydroxyurea in Cooleys Anemia 459(2) B. R. Saxon J. S. Waye N. F. Olivieri Preliminary Report: Hydroxyurea Produces Significant Clinical Response in Thalassemia Intermedia 461(2) L. Styles B. Lewis D. Foote L. Cuda E. Vichinsky Clinical Issues Iron Overload and Antioxidant Status in Patients with β-Thalassemia Major 463(3) K. Reller B. Dresow M. Collell R. Fischer R. Engelhardt P. Nielsen M. Durken C. Politis A. Piga Effect of Iron Chelator L1 on Iron Absorption in Man 466(3) B. Dresow R. Fischer P. Nielsen E. E. Gabbe A. Piga Survival and Morbidity in Transfusion-dependent Thalassemic Patients on Subcutaneous Desferrioxamine Chelation: Nearly Two Decades of Experience 469(2) E. M. Calleja J. Y. Chen M. Lesser R. W. Grady M. I. New P. J. Giardina Regulation of Glucose Disturbances with Glibenclamide in Patients with Thalassemia 471(4) V. Ladis C. Theodorides F. Palamidou S. Frissiras H. Berdousi C. Kattamis Bone Metabolism in Thalassemia 475(4) F. Garofalo A. Piga R. Lala S. Chiabotto M. Di Stefano G. C. Isaia Selective Loss of Anterior Pituitary Volume with Severe Pituitary-Gonadal Insufficiency in Poorly Compliant Male Thalassemic Patients with Pubertal Arrest 479(4) R. Chatteriee M. Katz A. Oatridge G. M. Bydder J. B. Porter A Trial to Investigate the Relationship between DFO Pharmacokinetics and Metabolism and DFO-Related Toxicity 483(5) J. B. Porter A. Faherty Deferoxamine Stability in Intravenous Solution 488(2) C. Rose C. Cambie G. Forzy M. Mahieu P. Fenaux F. Bauters Nontransfusional Iron Overload in Thalassemia: Association with Hereditary Hemochromatosis 490(5) D. C. Rees B. M. Singh L. Y. Luo S. Wickramasinghe S. L. Thein Stem Cell Transplantation Mixed Chimerism after Bone Marrow Transplantation in Thalassemia 495(3) S. Nesci. M. Manna G. Lucarelli P. Tonucci M. Donati O. Buffi F. Agostinelli M. Andreani Bone Marrow Transplantation for Homozygous β-Thalassemia--The Memorial Sloan-Kettering Cancer Center Experience 498(5) F. Boulad P. Giardina A. Gillio N. Kernan T. Small J. Brochstein K. Van Syckle D. George P. Szabolcs R. J. OReilly Bone Marrow Transplantation in Thalassemia: A Role for Radiation? 503(3) Y. S. Lee K. M. Kristovich J. M. Ducore E. Vichinsky V. L. Crouse B. E. Glader M. D. Amylon Psychosocial Issues and Health Care Delivery Patient-Oriented Research Facilitated through the Establishment of the Nurses Network for Cooleys Anemia (CANNA) 506(3) S. M. Carson L. Quill The Social Impact of Migration on Disease: Cooleys Anemia, Thalassemia, and New Asian Immigrants 509(3) N. Heer J. Choy E. P. Vichinsky The Psychosocial Burden of Cooleys Anemia in Affected Children and Their Parents 512(2) N. Klein A. Sen J. Rusby S. Ratip B. Modell N. F. Olivieri Outreach Strategies for Asian Pacific Island Communities 514(2) J. Choy R. C. Yamashita D. Foote N. Heer E. P. Vichinsky Approaches to Working with Adult Thalassemia Patients in Pediatric Settings 516(2) L. Weissman M. Treadwell D. Foote N. Heer E. P. Vichinsky From a Distance: Using Information Technologies to Overcome Geographic Boundaries in Thalassemia Service Delivery 518(3) R. C. Yamashita K. Quirolo J. Choy D. Foote Patient Cultures: Thalassemia Service Delivery and Patient Compliance 521(2) R. C. Yamashita D. Foote L. Weissman Index of Contributors 523