Cooley's anemia: eighth symposium
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| Schriftenreihe: | Annals of the New York Academy of Sciences
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| Beschreibung: | XIV, 526 S. Ill., graph. Darst. |
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| adam_text | ANNALS OF THE NEW YORK ACADEMY OF SCIENCES
Volume 1054
November 2005
COOLEY S ANEMIA
EIGHTH SYMPOSIUM
Editor and Symposium Chairman
Elliott P. Vichinsky
Conference Organizers
Elliott P. Vichinsky, Alan Cohen, George Atweh,
AND JAYNE RESTIVO
This volume is the result of a symposium entitled The Eighth Cooley s Anemia Sympo¬
sium, sponsored by the New York Academy of Sciences and the Cooley s Anemia Foun¬
dation, held on March 17 19, 2005, in Lake Buena Vista, Florida.
CONTENTS
Preface. By Elliott P. Vichinsky xiii
Thalassemia: The Continued Challenge. By David G. Nathan 1
Keynote Address: The Challenge of Thalassemia for the Developing
Countries. By David J. Weatherall 11
Part I. The Natural History of Thalassemia Worldwide
Changing Patterns of Thalassemia Worldwide. By Elliott P. Vichinsky ... 18
oc Thalassemia: Hb H Disease and Hb Barts Hydrops Fetalis. By
David H.K. Chui 25
Hemoglobin E P Thalassemia: Progress Report from the International Study
Group. By Anuja Premawardhena, Shanthimala de Silver,
Mahinda Arambepola, Nancy F. Olivieri, Elliott P. Vichinsky,
Laura Merson, Giulia Muraco, Angela Allen, Christopher
Fisher, Timothy Peto, and David J. Weatherall 33
Survival and Complications in Thalassemia. By C. BORGNA PlGNATTi,
M.D. Cappellini, P. de Stefano, G.C. del Vecchio, G.L. Forni,
M.R. Gamberini, R. Ghilardi, R. Origa, A. Piga, M.A. Romeo,
H. Zhao, and A. Cnaan 40
Part II. Gene Regulation and Therapy
Role of Intergenic Human y S Globin Sequences in Human Hemoglobin
Switching and Reactivation of Fetal Hemoglobin in Adult Erythroid
Cells. By Arthur Bank, David O Neill, Rocio Lopez,
dlanne pulte, maureen ward, slmon mantha, and
Christine Richardson 48
Isolation and Characterization of Hematopoietic Transcription Factor
Complexes by in Vivo Biotinylation Tagging and Mass Spectrometry.
By Frank Grosveld, Patrick Rodriguez, Natalia Meier,
Sanja Krpic, Farzin Pourfarzad, Petros Papadopoulos,
Katarzyna Kolodziej, George P. Patrinos, Arnd Hostert, and
John Strouboulis 55
Germline Epimutation: A Basis for Epigenetic Disease in Humans. By
David I.K. Martin, Robyn Ward, and Catherine M. Suter 68
Progress Toward the Genetic Treatment of the p Thalassemias. By Michel
Sadelain, Leszek Lisowski, Selda Samakoglu, Stefano Rivella,
Chad May, and Isabelle Riviere 78
Understanding a Globin Gene Regulation: Aiming to Improve the Manage¬
ment of Thalassemia. By D.R. HlGGS, D. Garrick, E. AnGUITA,
M. de Gobbi, J. Hughes, M. Muers, D. Vernimmen, K. Lower,
M. Law, A. Argentaro, M.A. Deville, and R. Gibbons 92
Role of Alpha Hemoglobin Stabilizing Protein in Normal Erythropoiesis and
P Thalassemia. By MITCHELL J. WEISS, SUIPING ZHOU, LIANG FENG,
David A. Gell, Joel P. Mackay, Yigong Shi, and Andrew J. Gow. 103
Part III. Mechanisms of Cell Injury from Iron Overload
in Thalassemia
Role of Iron in Inducing Oxidative Stress in Thalassemia: Can It Be Prevented
by Inhibition of Absorption and by Antioxidants? By Eliezer A.
Rachmilewitz, Orly Weizer Stern, Konstantin Adamsky,
Ninette Amariglio, Gideon Rechavi, Laura Breda, Stefano
Rivella, and Z. Ioav Cabantchik 118
Objectives and Mechanism of Iron Chelation Therapy. By Chaim Hershko,
Gabriela Link, Abraham M. Konijn, and Z. Ioav Cabantchik ... 124
Ferritin as an Iron Concentrator and Chelator Target. By Xiaofeng Liu and
Elizabeth C. Theil 136
Part IV. Iron Chelator: Development and Therapy
The Design of Orally Active Iron Chelators. By Robert C. HlDER and
Tao Zhou 141
Recent Insights into Interactions of Deferoxamine with Cellular and Plasma
Iron Pools: Implications for Clinical Use. By J.B. PORTER, R. Rafique,
S. Srichairatanakool, B.A. Davis, F.T. Shah, T. Hair, and
P. Evans 155
Deferiprone: New Insight. By A. Piga, S. Roggero, T. Vinciguerra,
L. Sacchetti, V. Gallo, and F. Longo 169
Combined Therapy with Deferroxamine and Deferiprone. By
Antonis Kattamis 175
Evaluation of ICL670, a Once Daily Oral Iron Chelator in a Phase III Clinical
Trial of P Thalassemia Patients with Transfusional Iron Overload. By
Renzo Galanello 183
Part V. New Advances in Stem Cell Transplantation
Unrelated Bone Marrow Transplantation for P Thalassemia Patients: The
Experience of the Italian Bone Marrow Transplant Group. By GIORGIO
La Nasa, Franca Argiolu, Claudio Giardini, Andrea Pession,
Franca Fagioli, Giovanni Caocci, Adriana Vacca, Piero de
Stefano, Eugenia Piras, Antonio Ledda, Antonio Piroddi,
Roberto Littera, Sonia Nesci, and Franco Locatelli 186
Bone Marrow Transplantation in Adults with Thalassemia: Treatment and
Long Term Follow Up. By Javid Gaziev, Pietro Sodani, Paola
Polchi, Marco Andreani, and Guido Lucarelli 196
Sibling Donor Cord Blood Transplantation for Thalassemia Major: Experi¬
ence of the Sibling Donor Cord Blood Program. By Mark C. Walters,
Lynn Quirolo, Elizabeth T. Trachtenberg, Sandie Edwards,
Lisa Hale, Joanna Lee, Joi Morton Wiley, Keith Quirolo,
Shanda Robertson, Julie Saba, and Bert Lubin 206
Stem Cell Transplantation with S 59 Photochemically Treated T Cell Add
Backs to Establish Allochimerism in Murine Thalassemia. By Frans A.
Kuypers, Gordon Watson, Ezra Sage, Mark C. Walters, James
Hamrick, and John E. Hearst 214
Preimplantation Genetics: Improving Access to Stem Cell Therapy. By
Anver Kuliev, Svetlana Rechitsky, Ilan Tur Kaspa, and
Yury Verlinsky 223
Part VI. New Therapy for Thalassemia
Pharmacological Induction of Fetal Hemoglobin: Why Haven t We Been
More Successful in Thalassemia? By Hassana Fathallah, Millicent
SUTTON, AND GEORGE F. ATWEH 228
Successful Correction of the Human Cooley s Anemia P Thalassemia Major
Phenotype Using a Lentiviral Vector Flanked by the Chicken Hyper¬
sensitive Site 4 Chromatin Insulator. By Punam Malik, Paritha I.
Arumugam, Jing Kuan Yee, and Geetha Puthenveetil 238
Single and Combination Drug Therapy for Fetal Hemoglobin Augmentation
in Hemoglobin E P Thalassemia: Considerations for Treatment. By
Sylvia T. Singer, Frans A. Kuypers, Nancy F. Olivieri,
David J. Weatherall, Robert Mignacca, Thomas D. Coates,
Sally Davies, Nancy Sweeters, Elliott P. Vichinsky, and
THE E/P° THALASSEMIA STUDY GROUP 250
Induction of Fetal Globin in P Thalassemia: Cellular Obstacles and Molecular
Progress. By Susan P. Perrine, Serguei A. Castaneda,
Michael S. Boosalis, Gary L. White, Brandon M. Jones, and
Regine Bohacek 257
Part VII. Barriers to Optimal Survival in Thalassemia
Caring for Adults with Thalassemia in a Pediatric World. By
Laurice M. Compagno 266
Quality of Life in Thalassemia. By P. Telfer, G. Constantinidou,
P. Andreou, S. Christou, B. Modell, and M. Angastiniotis 273
Thalassemia and Learning: Neurocognitive Function in Children. By
F. Daniel Armstrong 283
Treatment of Hepatitis C Virus Infection in Thalassemia. By Ellen Butensky,
Zahra Pakbaz, Drucilla Foote, Mark C. Walters, Elliott P.
VlCHINSKY, AND PAUL HARMATZ 290
Fertility and Pregnancy in Thalassemia Major. By Susan M. Tuck 300
Part VIII. Emerging Issues in Thalassemia
A Phase I/II Clinical Trial of f5 Globin Gene Therapy for (J Thalassemia. By
Arthur Bank, Ronald Dorazio, and Philippe Leboulch 308
Coagulation and Splenectomy: An Overview. By M.D. Cappellini,
E. Grespi, E. Cassinerio, D. Bignamini, and G. Fiorelli 317
Transfusion Safety: Where Are We Today? By Naomi L.C. Luban 325
Pulmonary Hypertension in p Thalassemia. By Athanasios Aessopos and
Dimitrios Farmakis 342
Part IX. Noninvasive Iron Measurements
Monitoring Long Term Efficacy of Iron Chelation Treatment with Biomag
netic Liver Susceptometry. By Roland Fischer, Antonio Piga, Paul
Harmatz, and Peter Nielsen 350
Methods for Noninvasive Measurement of Tissue Iron in Cooley s Anemia.
By Sujit Sheth, Haiying Tang, Jens H. Jensen, Karen Altmann,
Ashwin Prakash, Beth F. Printz, Alan J. Hordof, Christina L.
Tosti, Andjela Azabagic, Srirama Swaminathan, Truman R.
Brown, Nancy F. Olivieri, and Gary M. Brittenham 358
T2* Magnetic Resonance and Myocardial Iron in Thalassemia. By
Dudley J. Pennell 373
Measurement and Mapping of Liver Iron Concentrations Using Magnetic
Resonance Imaging. By Timothy G. St. Pierre, Paul R. Clark, and
Wanida Chua Anusorn 379
Physiology and Pathophysiology of Iron Cardiomyopathy in Thalassemia. By
John C. Wood, Cathleen Enriquez, Nilesh Ghugre, Maya Otto
Duessel, Michelle Aguilar, Marvin D. Nelson, Rex Moats, and
Thomas D. Coates 386
Eighth Cooley s Anemia Symposium: Summation and Perspective. By
Arthur W. Nienhuis 396
Part X. Short Papers
Animal Models
Rescued Mice with Hb E Transgene Developed Red Cell Changes Similar to
Human P Thalassemia/HbE Disease. By Bundit Wannasuphaphol,
RUCHANEEKORN KALPRAVIDH, KOVIT PATTANAPANYASAT,
Panos Ioannau, Frans A. Kuypers, Suthat Fucharoen, and
Pranee Winichagoon 407
Exploring the Role of Hepcidin, an Antimicrobial and Iron Regulator Peptide,
in Increased Iron Absorption in p Thalassemia. By Laura Breda,
Sara Gardenghi, Ella Guy, Eliezer A. Rachmilewitz, Orly
Weizer Stern, Konstantin Adamsky, Ninette Amariglio,
Gideon Rechavi, Patricia J. Giardina, Robert W. Grady, and
Stefano Rivella 417
Murine and Math Models for the Level of Stable Mixed Chimerism to Cure
P Thalassemia by Nonmyeloablative Bone Marrow Transplantation. By
Carla Roberts, Leslie Kean, David Archer, Can Balkan, and
Lewis L. Hsu 423
Pathophysiology
Non Transferrin Bound Iron During Blood Transfusion Cycles in p Thalas¬
semia Major. By Regine Grosse, Ulrike Lund, Vincenzo Caruso,
Roland Fischer, Gritta E. Janka, Carmelo Magnano, Rainer
Engelhardt, Matthias Durken, and Peter Nielsen 429
Genetic Analysis of Candidate Modifier Polymorphisms in
HbE P° Thalassemia Patients. By Orapan Sripichai, Johanna
Whitacre, Thongperm Munkongdee, Chutima Kumkhaek,
Wattanan Makarasara, Pranee Winichagoon, Ken Abel,
Andreas Braun, and Suthat Fucharoen 433
Measuring Chromosome Breaks in Patients with Thalassemia. By Tal Offer,
Amrita Bhagat, Ashutosh Lal, Wafa Atamna, Sylvia T.
Singer, Elliott P. Vichinsky, Frans A. Kuypers, and
Bruce N. Ames 439
Clinical
Longitudinal Study of Survival and Causes of Death in Patients with Thalas¬
semia Major in Greece. By Vassilis Ladis, George Chouliaras,
Helen Berdousi, Emmanuel Kanavakis, and Christos Kattamis . 445
Osteoporosis in p Thalassemia: Clinical and Genetic Aspects. By R. Origa,
E. Fiumana, M.R. Gamberini, S. Armari, M. Mottes, A. Sangalli,
E. Paglietti, R. Galanello, and C. Borgna Pignatti 451
Quality of Life in Patients with Thalassemia Intermedia Compared to Thalas¬
semia Major. By Zahra Pakbaz, Marsha Treadwell, Robert
Yamashita, Keith Quirolo, Drucilla Foote, Laura Quill,
Titi Singer, and Elliott P. Vichinsky 457
Low Bone Mineral Density in Adolescents with p Thalassemia. By Maria G.
Vogiatzi, Karen A. Autio, Jeffrey E. Mait, Robert Schneider,
Martin Lesser, and Patricia J. Giardina 462
Pulmonary Hypertension and Cardiopulmonary Disease
Does Heterozygous P Thalassemia Confer a Protection against Coronary
Artery Disease? By Stergios Tassiopoulos, Spyros Deftereos,
KOSTAS KONSTANTOPOULOS, DlMITRIS FARMAKIS, MARIA TSIRONI,
MlCHALIS KYRIAKIDIS, AND ATHANASSIOS AESSOPOS 467
Therapeutic Approaches to Pulmonary Hypertension in Hemoglobinopathies:
Efficacy and Safety of Sildenafil in the Treatment of Severe Pulmonary
Hypertension in Patients with Hemoglobinopathy. By Giorgio Derchi
AND GlAN LUCA FORM 471
Utility of Holter Electrocardiogram in Iron Overloaded Hemoglobinopathies.
By Naveen Qureshi, Kishor Avasarala, Drucilla Foote, and
Elliott P. Vichinsky 476
Hemolysis Associated Pulmonary Hypertension in Thalassemia. By
Claudia R. Morris, Frans A. Kuypers, Gregory J. Kato, Lisa
Lavrisha, Sandra Larkin, Titi Singer, and Elliott P. Vichinsky . 481
Transfusion, Iron Overload, and Therapy
A Simple Model to Assess and Improve Adherence to Iron Chelation Therapy
with Deferoxamine in Patients with Thalassemia. By Zahra Pakbaz,
Roland Fischer, Marsha Treadwell, Robert Yamashita, Ellen
B. Fung, Lisa Calvelli, Keith Quirolo, Drucilla Foote, Paul
Harmatz, and Elliott P. Vichinsky 486
Preclinical and Clinical Development of Deferitrin, a Novel, Orally Available
Iron Chelator. By Joanne M. Donovan, Melissa Plone, Rafif
Dagher, Mark Bree, and Judith Marquis 492
Allosensitization in Patients Receiving Multiple Blood Transfusions. By
V.S. Sakhalkar, K. Roberts, L.M. Hawthorne, D.M. McCaskill,
D.M. Veillon, G.C. Caldito, and J.D. Cotelingam 495
Prenatal Diagnosis and Treatment
Outcomes of Preimplantation Genetic Diagnosis Therapy in Treatment of
P Thalassemia: A Retrospective Analysis. By Naveen Qureshi,
Drucilla Foote, Mark C. Walters, Sylvia T. Singer, Keith
Quirolo, and Elliott P. Vichinsky 500
Separation of Normoblasts from Whole Blood by Ultracentrifugation on
Arabino Galactane Discontinuous Gradients: A Tool for Prenatal
Diagnosis. By SERGIO PlOMELLI, DANIEL HlRSCH, AND
Lawrence Corash 504
Prenatal Diagnosis of Hemoglobinopathies in Ontario, Canada. By Raveen K.
Basran, Margie Patterson, Lynda Walker, Lisa M. Nakamura,
Barry Eng, David H.K. Chui, and John S. Waye 507
Workshop Summaries
The Splenectomy Controversy. Sergio Piomelli, Rapporteur 511
Diagnosis and Management of Alpha Thalassemia Disorders.
Fred LOREY, Rapporteur 514
Management of the Difficult Iron Overloaded Patient.
Marie Boorman Martin, Rapporteur 516
Genotypes and Phenotypes of Thalassemia: A Discussion.
SUTHAT FUCHAROEN, Rapporteur 518
Nutrition: Role in Health and Therapy. Virginia A. Stallings, Rapporteur. 522
Index of Contributors 523
Financial assistance was received from:
Major Funders
• APOPHARMA, INC.
• NATIONAL INSTITUTES OF HEALTH, OFFICE OF RARE DISEASES
• NATIONAL HEART, LUNG, AND BLOOD INSTITUTE
• NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY
DISEASES
Supporter
• GENZYME
The New York Academy of Sciences believes it has a responsibility to provide an open
forum for discussion of scientific questions. The positions taken by the participants in
the reported conferences are their own and not necessarily those of the Academy. The
Academy has no intent to influence legislation by providing such forums.
|
| adam_txt |
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES
Volume 1054
November 2005
COOLEY'S ANEMIA
EIGHTH SYMPOSIUM
Editor and Symposium Chairman
Elliott P. Vichinsky
Conference Organizers
Elliott P. Vichinsky, Alan Cohen, George Atweh,
AND JAYNE RESTIVO
This volume is the result of a symposium entitled The Eighth Cooley's Anemia Sympo¬
sium, sponsored by the New York Academy of Sciences and the Cooley's Anemia Foun¬
dation, held on March 17 19, 2005, in Lake Buena Vista, Florida.
CONTENTS
Preface. By Elliott P. Vichinsky xiii
Thalassemia: The Continued Challenge. By David G. Nathan 1
Keynote Address: The Challenge of Thalassemia for the Developing
Countries. By David J. Weatherall 11
Part I. The Natural History of Thalassemia Worldwide
Changing Patterns of Thalassemia Worldwide. By Elliott P. Vichinsky . 18
oc Thalassemia: Hb H Disease and Hb Barts Hydrops Fetalis. By
David H.K. Chui 25
Hemoglobin E P Thalassemia: Progress Report from the International Study
Group. By Anuja Premawardhena, Shanthimala de Silver,
Mahinda Arambepola, Nancy F. Olivieri, Elliott P. Vichinsky,
Laura Merson, Giulia Muraco, Angela Allen, Christopher
Fisher, Timothy Peto, and David J. Weatherall 33
Survival and Complications in Thalassemia. By C. BORGNA PlGNATTi,
M.D. Cappellini, P. de Stefano, G.C. del Vecchio, G.L. Forni,
M.R. Gamberini, R. Ghilardi, R. Origa, A. Piga, M.A. Romeo,
H. Zhao, and A. Cnaan 40
Part II. Gene Regulation and Therapy
Role of Intergenic Human y S Globin Sequences in Human Hemoglobin
Switching and Reactivation of Fetal Hemoglobin in Adult Erythroid
Cells. By Arthur Bank, David O'Neill, Rocio Lopez,
dlanne pulte, maureen ward, slmon mantha, and
Christine Richardson 48
Isolation and Characterization of Hematopoietic Transcription Factor
Complexes by in Vivo Biotinylation Tagging and Mass Spectrometry.
By Frank Grosveld, Patrick Rodriguez, Natalia Meier,
Sanja Krpic, Farzin Pourfarzad, Petros Papadopoulos,
Katarzyna Kolodziej, George P. Patrinos, Arnd Hostert, and
John Strouboulis 55
Germline Epimutation: A Basis for Epigenetic Disease in Humans. By
David I.K. Martin, Robyn Ward, and Catherine M. Suter 68
Progress Toward the Genetic Treatment of the p Thalassemias. By Michel
Sadelain, Leszek Lisowski, Selda Samakoglu, Stefano Rivella,
Chad May, and Isabelle Riviere 78
Understanding a Globin Gene Regulation: Aiming to Improve the Manage¬
ment of Thalassemia. By D.R. HlGGS, D. Garrick, E. AnGUITA,
M. de Gobbi, J. Hughes, M. Muers, D. Vernimmen, K. Lower,
M. Law, A. Argentaro, M.A. Deville, and R. Gibbons 92
Role of Alpha Hemoglobin Stabilizing Protein in Normal Erythropoiesis and
P Thalassemia. By MITCHELL J. WEISS, SUIPING ZHOU, LIANG FENG,
David A. Gell, Joel P. Mackay, Yigong Shi, and Andrew J. Gow. 103
Part III. Mechanisms of Cell Injury from Iron Overload
in Thalassemia
Role of Iron in Inducing Oxidative Stress in Thalassemia: Can It Be Prevented
by Inhibition of Absorption and by Antioxidants? By Eliezer A.
Rachmilewitz, Orly Weizer Stern, Konstantin Adamsky,
Ninette Amariglio, Gideon Rechavi, Laura Breda, Stefano
Rivella, and Z. Ioav Cabantchik 118
Objectives and Mechanism of Iron Chelation Therapy. By Chaim Hershko,
Gabriela Link, Abraham M. Konijn, and Z. Ioav Cabantchik . 124
Ferritin as an Iron Concentrator and Chelator Target. By Xiaofeng Liu and
Elizabeth C. Theil 136
Part IV. Iron Chelator: Development and Therapy
The Design of Orally Active Iron Chelators. By Robert C. HlDER and
Tao Zhou 141
Recent Insights into Interactions of Deferoxamine with Cellular and Plasma
Iron Pools: Implications for Clinical Use. By J.B. PORTER, R. Rafique,
S. Srichairatanakool, B.A. Davis, F.T. Shah, T. Hair, and
P. Evans 155
Deferiprone: New Insight. By A. Piga, S. Roggero, T. Vinciguerra,
L. Sacchetti, V. Gallo, and F. Longo 169
Combined Therapy with Deferroxamine and Deferiprone. By
Antonis Kattamis 175
Evaluation of ICL670, a Once Daily Oral Iron Chelator in a Phase III Clinical
Trial of P Thalassemia Patients with Transfusional Iron Overload. By
Renzo Galanello 183
Part V. New Advances in Stem Cell Transplantation
Unrelated Bone Marrow Transplantation for P Thalassemia Patients: The
Experience of the Italian Bone Marrow Transplant Group. By GIORGIO
La Nasa, Franca Argiolu, Claudio Giardini, Andrea Pession,
Franca Fagioli, Giovanni Caocci, Adriana Vacca, Piero de
Stefano, Eugenia Piras, Antonio Ledda, Antonio Piroddi,
Roberto Littera, Sonia Nesci, and Franco Locatelli 186
Bone Marrow Transplantation in Adults with Thalassemia: Treatment and
Long Term Follow Up. By Javid Gaziev, Pietro Sodani, Paola
Polchi, Marco Andreani, and Guido Lucarelli 196
Sibling Donor Cord Blood Transplantation for Thalassemia Major: Experi¬
ence of the Sibling Donor Cord Blood Program. By Mark C. Walters,
Lynn Quirolo, Elizabeth T. Trachtenberg, Sandie Edwards,
Lisa Hale, Joanna Lee, Joi Morton Wiley, Keith Quirolo,
Shanda Robertson, Julie Saba, and Bert Lubin 206
Stem Cell Transplantation with S 59 Photochemically Treated T Cell Add
Backs to Establish Allochimerism in Murine Thalassemia. By Frans A.
Kuypers, Gordon Watson, Ezra Sage, Mark C. Walters, James
Hamrick, and John E. Hearst 214
Preimplantation Genetics: Improving Access to Stem Cell Therapy. By
Anver Kuliev, Svetlana Rechitsky, Ilan Tur Kaspa, and
Yury Verlinsky 223
Part VI. New Therapy for Thalassemia
Pharmacological Induction of Fetal Hemoglobin: Why Haven't We Been
More Successful in Thalassemia? By Hassana Fathallah, Millicent
SUTTON, AND GEORGE F. ATWEH 228
Successful Correction of the Human Cooley's Anemia P Thalassemia Major
Phenotype Using a Lentiviral Vector Flanked by the Chicken Hyper¬
sensitive Site 4 Chromatin Insulator. By Punam Malik, Paritha I.
Arumugam, Jing Kuan Yee, and Geetha Puthenveetil 238
Single and Combination Drug Therapy for Fetal Hemoglobin Augmentation
in Hemoglobin E P Thalassemia: Considerations for Treatment. By
Sylvia T. Singer, Frans A. Kuypers, Nancy F. Olivieri,
David J. Weatherall, Robert Mignacca, Thomas D. Coates,
Sally Davies, Nancy Sweeters, Elliott P. Vichinsky, and
THE E/P° THALASSEMIA STUDY GROUP 250
Induction of Fetal Globin in P Thalassemia: Cellular Obstacles and Molecular
Progress. By Susan P. Perrine, Serguei A. Castaneda,
Michael S. Boosalis, Gary L. White, Brandon M. Jones, and
Regine Bohacek 257
Part VII. Barriers to Optimal Survival in Thalassemia
Caring for Adults with Thalassemia in a Pediatric World. By
Laurice M. Compagno 266
Quality of Life in Thalassemia. By P. Telfer, G. Constantinidou,
P. Andreou, S. Christou, B. Modell, and M. Angastiniotis 273
Thalassemia and Learning: Neurocognitive Function in Children. By
F. Daniel Armstrong 283
Treatment of Hepatitis C Virus Infection in Thalassemia. By Ellen Butensky,
Zahra Pakbaz, Drucilla Foote, Mark C. Walters, Elliott P.
VlCHINSKY, AND PAUL HARMATZ 290
Fertility and Pregnancy in Thalassemia Major. By Susan M. Tuck 300
Part VIII. Emerging Issues in Thalassemia
A Phase I/II Clinical Trial of f5 Globin Gene Therapy for (J Thalassemia. By
Arthur Bank, Ronald Dorazio, and Philippe Leboulch 308
Coagulation and Splenectomy: An Overview. By M.D. Cappellini,
E. Grespi, E. Cassinerio, D. Bignamini, and G. Fiorelli 317
Transfusion Safety: Where Are We Today? By Naomi L.C. Luban 325
Pulmonary Hypertension in p Thalassemia. By Athanasios Aessopos and
Dimitrios Farmakis 342
Part IX. Noninvasive Iron Measurements
Monitoring Long Term Efficacy of Iron Chelation Treatment with Biomag
netic Liver Susceptometry. By Roland Fischer, Antonio Piga, Paul
Harmatz, and Peter Nielsen 350
Methods for Noninvasive Measurement of Tissue Iron in Cooley's Anemia.
By Sujit Sheth, Haiying Tang, Jens H. Jensen, Karen Altmann,
Ashwin Prakash, Beth F. Printz, Alan J. Hordof, Christina L.
Tosti, Andjela Azabagic, Srirama Swaminathan, Truman R.
Brown, Nancy F. Olivieri, and Gary M. Brittenham 358
T2* Magnetic Resonance and Myocardial Iron in Thalassemia. By
Dudley J. Pennell 373
Measurement and Mapping of Liver Iron Concentrations Using Magnetic
Resonance Imaging. By Timothy G. St. Pierre, Paul R. Clark, and
Wanida Chua Anusorn 379
Physiology and Pathophysiology of Iron Cardiomyopathy in Thalassemia. By
John C. Wood, Cathleen Enriquez, Nilesh Ghugre, Maya Otto
Duessel, Michelle Aguilar, Marvin D. Nelson, Rex Moats, and
Thomas D. Coates 386
Eighth Cooley's Anemia Symposium: Summation and Perspective. By
Arthur W. Nienhuis 396
Part X. Short Papers
Animal Models
Rescued Mice with Hb E Transgene Developed Red Cell Changes Similar to
Human P Thalassemia/HbE Disease. By Bundit Wannasuphaphol,
RUCHANEEKORN KALPRAVIDH, KOVIT PATTANAPANYASAT,
Panos Ioannau, Frans A. Kuypers, Suthat Fucharoen, and
Pranee Winichagoon 407
Exploring the Role of Hepcidin, an Antimicrobial and Iron Regulator Peptide,
in Increased Iron Absorption in p Thalassemia. By Laura Breda,
Sara Gardenghi, Ella Guy, Eliezer A. Rachmilewitz, Orly
Weizer Stern, Konstantin Adamsky, Ninette Amariglio,
Gideon Rechavi, Patricia J. Giardina, Robert W. Grady, and
Stefano Rivella 417
Murine and Math Models for the Level of Stable Mixed Chimerism to Cure
P Thalassemia by Nonmyeloablative Bone Marrow Transplantation. By
Carla Roberts, Leslie Kean, David Archer, Can Balkan, and
Lewis L. Hsu 423
Pathophysiology
Non Transferrin Bound Iron During Blood Transfusion Cycles in p Thalas¬
semia Major. By Regine Grosse, Ulrike Lund, Vincenzo Caruso,
Roland Fischer, Gritta E. Janka, Carmelo Magnano, Rainer
Engelhardt, Matthias Durken, and Peter Nielsen 429
Genetic Analysis of Candidate Modifier Polymorphisms in
HbE P° Thalassemia Patients. By Orapan Sripichai, Johanna
Whitacre, Thongperm Munkongdee, Chutima Kumkhaek,
Wattanan Makarasara, Pranee Winichagoon, Ken Abel,
Andreas Braun, and Suthat Fucharoen 433
Measuring Chromosome Breaks in Patients with Thalassemia. By Tal Offer,
Amrita Bhagat, Ashutosh Lal, Wafa Atamna, Sylvia T.
Singer, Elliott P. Vichinsky, Frans A. Kuypers, and
Bruce N. Ames 439
Clinical
Longitudinal Study of Survival and Causes of Death in Patients with Thalas¬
semia Major in Greece. By Vassilis Ladis, George Chouliaras,
Helen Berdousi, Emmanuel Kanavakis, and Christos Kattamis . 445
Osteoporosis in p Thalassemia: Clinical and Genetic Aspects. By R. Origa,
E. Fiumana, M.R. Gamberini, S. Armari, M. Mottes, A. Sangalli,
E. Paglietti, R. Galanello, and C. Borgna Pignatti 451
Quality of Life in Patients with Thalassemia Intermedia Compared to Thalas¬
semia Major. By Zahra Pakbaz, Marsha Treadwell, Robert
Yamashita, Keith Quirolo, Drucilla Foote, Laura Quill,
Titi Singer, and Elliott P. Vichinsky 457
Low Bone Mineral Density in Adolescents with p Thalassemia. By Maria G.
Vogiatzi, Karen A. Autio, Jeffrey E. Mait, Robert Schneider,
Martin Lesser, and Patricia J. Giardina 462
Pulmonary Hypertension and Cardiopulmonary Disease
Does Heterozygous P Thalassemia Confer a Protection against Coronary
Artery Disease? By Stergios Tassiopoulos, Spyros Deftereos,
KOSTAS KONSTANTOPOULOS, DlMITRIS FARMAKIS, MARIA TSIRONI,
MlCHALIS KYRIAKIDIS, AND ATHANASSIOS AESSOPOS 467
Therapeutic Approaches to Pulmonary Hypertension in Hemoglobinopathies:
Efficacy and Safety of Sildenafil in the Treatment of Severe Pulmonary
Hypertension in Patients with Hemoglobinopathy. By Giorgio Derchi
AND GlAN LUCA FORM 471
Utility of Holter Electrocardiogram in Iron Overloaded Hemoglobinopathies.
By Naveen Qureshi, Kishor Avasarala, Drucilla Foote, and
Elliott P. Vichinsky 476
Hemolysis Associated Pulmonary Hypertension in Thalassemia. By
Claudia R. Morris, Frans A. Kuypers, Gregory J. Kato, Lisa
Lavrisha, Sandra Larkin, Titi Singer, and Elliott P. Vichinsky . 481
Transfusion, Iron Overload, and Therapy
A Simple Model to Assess and Improve Adherence to Iron Chelation Therapy
with Deferoxamine in Patients with Thalassemia. By Zahra Pakbaz,
Roland Fischer, Marsha Treadwell, Robert Yamashita, Ellen
B. Fung, Lisa Calvelli, Keith Quirolo, Drucilla Foote, Paul
Harmatz, and Elliott P. Vichinsky 486
Preclinical and Clinical Development of Deferitrin, a Novel, Orally Available
Iron Chelator. By Joanne M. Donovan, Melissa Plone, Rafif
Dagher, Mark Bree, and Judith Marquis 492
Allosensitization in Patients Receiving Multiple Blood Transfusions. By
V.S. Sakhalkar, K. Roberts, L.M. Hawthorne, D.M. McCaskill,
D.M. Veillon, G.C. Caldito, and J.D. Cotelingam 495
Prenatal Diagnosis and Treatment
Outcomes of Preimplantation Genetic Diagnosis Therapy in Treatment of
P Thalassemia: A Retrospective Analysis. By Naveen Qureshi,
Drucilla Foote, Mark C. Walters, Sylvia T. Singer, Keith
Quirolo, and Elliott P. Vichinsky 500
Separation of Normoblasts from Whole Blood by Ultracentrifugation on
Arabino Galactane Discontinuous Gradients: A Tool for Prenatal
Diagnosis. By SERGIO PlOMELLI, DANIEL HlRSCH, AND
Lawrence Corash 504
Prenatal Diagnosis of Hemoglobinopathies in Ontario, Canada. By Raveen K.
Basran, Margie Patterson, Lynda Walker, Lisa M. Nakamura,
Barry Eng, David H.K. Chui, and John S. Waye 507
Workshop Summaries
The Splenectomy Controversy. Sergio Piomelli, Rapporteur 511
Diagnosis and Management of Alpha Thalassemia Disorders.
Fred LOREY, Rapporteur 514
Management of the "Difficult" Iron Overloaded Patient.
Marie Boorman Martin, Rapporteur 516
Genotypes and Phenotypes of Thalassemia: A Discussion.
SUTHAT FUCHAROEN, Rapporteur 518
Nutrition: Role in Health and Therapy. Virginia A. Stallings, Rapporteur. 522
Index of Contributors 523
Financial assistance was received from:
Major Funders
• APOPHARMA, INC.
• NATIONAL INSTITUTES OF HEALTH, OFFICE OF RARE DISEASES
• NATIONAL HEART, LUNG, AND BLOOD INSTITUTE
• NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY
DISEASES
Supporter
• GENZYME
The New York Academy of Sciences believes it has a responsibility to provide an open
forum for discussion of scientific questions. The positions taken by the participants in
the reported conferences are their own and not necessarily those of the Academy. The
Academy has no intent to influence legislation by providing such forums. |
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| id | DE-604.BV021605332 |
| illustrated | Illustrated |
| index_date | 2024-07-02T14:49:01Z |
| indexdate | 2024-07-09T20:39:44Z |
| institution | BVB |
| isbn | 157331580x 1573315818 |
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| subject_GND | (DE-588)4184972-3 (DE-588)4134296-3 (DE-588)1071861417 |
| title | Cooley's anemia eighth symposium |
| title_auth | Cooley's anemia eighth symposium |
| title_exact_search | Cooley's anemia eighth symposium |
| title_exact_search_txtP | Cooley's anemia eighth symposium |
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| title_short | Cooley's anemia |
| title_sort | cooley s anemia eighth symposium |
| title_sub | eighth symposium |
| topic | Thalassemie gtt Thalassemia Congresses beta-Thalassemia Congresses Thalassämie (DE-588)4184972-3 gnd |
| topic_facet | Thalassemie Thalassemia Congresses beta-Thalassemia Congresses Thalassämie Lake Buena Vista, Fla. Konferenzschrift Electronic books |
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