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This book is a completely revised new edition of the definitive reference on disorders of hemoglobin. Authored by world-renowned experts, the book focuses on basic science aspects and clinical features of hemoglobinopathies, covering diagnosis, treatment, and future applications of current research. While the second edition continues to address the important molecular, cellular, and genetic components, coverage of clinical issues has been significantly expanded, and there is more practical emphasis on diagnosis and management throughout. The book opens with a review of the scientific underpinnings. Pathophysiology of common hemoglobin disorders is discussed next in an entirely new section devoted to vascular biology, the erythrocyte membrane, nitric oxide biology, and hemolysis. Four sections deal with α and β thalassemia, sickle cell disease, and related conditions, followed by special topics. The second edition concludes with current and developing approaches to treatment, incorporating new agents for iron chelation, methods to induce fetal hemoglobin production, novel treatment approaches, stem cell transplantation, and progress in gene therapy. - The definitive reference on disorders of hemoglobin - Authored by world renowned experts in this field - Provides practical approaches to treatment CONTENTS Foreword H. Franklin Bunn; Preface; Introduction David Weatherall; Part I. The Cellular, Molecular and Genetic Basis of Hemoglobin Disorders: Introduction; 1. The development of hematopoiesis Elaine Dzierzak; 2. Erythropoiesis S. Philipsen and W. G. Wood; 3. The normal structure regulation of human globin gene clusters Bernard G. Forget and Ross C. Hardison; 4. The normal regulation of globin gene expression Gerd A. Blobel and Mitchell J. Weiss; 5. The molecular and cellular basis of developmental globin gene switching George Stamatoyannopoulos; 6. Structure and function of hemoglobin and its dysfunction in sickle cell disease Daniel Kim-Shapiro; 7. Hemoglobins of the embryo, fetus and adult Martin H. Steinberg and Ronald L. Nagel; Part II. Pathophysiology of Hemoglobin and its Disorders: Introduction; 8. Vascular biology Dhananjat Kaul; 9. The erythrocyte membrane Clint Joiner and Patrick Gallagher; 10. The biology of vascular nitric oxide Jane A. Leopold and Joseph Loscalzo; 11. Mechanisms and complications of hemolysis in sickle cell disease and thalassemia Gregory J. Kato and Mark T. Gladwin; 12. The importance of animal models in understanding pathophysiology Mary Fabry; Part III. α Thalassemia: Introduction: 13. The molecular basis of alpha thalassemia Douglas R. Higgs and Vip Viprakasit; 14. The pathophysiology and clinical features of alpha thalassemia Douglas R. Higgs, Vip Viprakasit and Don Bowden; 15. Alpha thalassemia with mental retardation and myelodysplasia Douglas R. Higgs, Richard Gibbons, and David Steensma; Part IV. Beta Thalassemia: Introduction: 16. The molecular basis of beta thalassemia S. L. Thein and W. G. Wood; 17. Clinical aspects of beta thalassemia and related disorders Nancy F. Olivieri, D. K. Bowden, and D. J. Weatherall; 18. HbE disorders Suthat Fuchareon and David Weatherall; Part V. Sickle Cell Disease: Introduction: 19. Clinical and pathophysiological aspects of sickle cell anemia Martin Steinberg, Kwaku Ohene-Frempong, and Matthew M. Heeney; 20. Biology of pain and treatment of the sickle cell painful episode Samir K. Ballas and James R. Eckman; 21. HbSC disease and HbC Martin H. Steinberg and Ronald L. Nagel; 22. Sickle cell trait Martin H. Steinberg; 23. Other sickle hemoglobinopathies Martin H. Steinberg; Part VI. Other Clinically Important Disorders of Hemoglobin: Introduction: 24. Unstable hemoglobins; hemoglobins with altered oxygen affinity; hemoglobin M; other variants of clinical and biological interest Martin H. Steinberg and Ronald L. Nagel; 25. Dyshemoglobinemias Neeraj Agarwal and Ronald L. Nagel; Part VII. Special Topics in Hemoglobinopathies: Introduction: 26. Population genetics and global health burden David J. Weatherall and Thomas N. Williams; 27. Genetic modulation of sickle cell disease and thalassemia Martin H. Steinberg and Ronald L. Nagel; 28. Developments in laboratory methods to detect hemoglobinopathies Mary Fabry and John M. Old; Part VIII. New Approaches to the Treatment of Hemoglobinopathies and Thalassemia: Introduction: 29. Transfusion and iron chelation John Porter, Alan R. Cohen and Janet L. Kwiatkowski; 30. Induction of HbF Yogen Saunthararajah and George F. Atweh; 31. Novel approaches to treatment - (anitoxidants, statins, anti-inflammatory agents, K-Cl and Gardos inhibitors, other transport inhibitors, NO) Carlo Brugnara, Kirkwood A. Pritchard, Jr and Cheryl Hillery; 32. Stem cell transplantation Emanuele Angelucci and Mark Walters; 33. Gene therapy Derek A. Persons, Brian P. Sorrentino, and Arthur W. Nienhuis. CONTRIBUTORS H. Franklin Bunn, David Weatherall, Elaine Dzierzak, S. Philipsen, W. G. Wood, Bernard G. Forget, Ross C. Hardison, Gerd A. Blobel, Mitchell J. Weiss, George Stamatoyannopoulos, Daniel Kim-Shapiro, Martin H. Steinberg, Ronald L. Nagel, Dhananjat Kaul, Clint Joiner, Patrick Gallagher, Jane A. Leopold, Joseph Loscalzo, Gregory J. Kato, Mark T. Gladwin, Mary Fabry, Douglas R. Higgs, Vip Viprakasit, Don Bowden, Richard Gibbons, David Steensma, S. L. Thein, Nancy F. Olivieri, Suthat Fuchareon, Kwaku Ohene-Frempong, Matthew M. Heeney, Samir K. Ballas, James R. Eckman, Neeraj Agarwal, Thomas N. Williams, John M. Old, John Porter, Alan R. Cohen, Janet L. Kwiatkowski, Yogen Saunthararajah, George F. Atweh, Carlo Brugnara, Kirkwood A. Pritchard, Jr, Cheryl Hillery, Emanuele Angelucci, Mark Walters, Derek A. Persons, Brian P. Sorrentino, Arthur W. Nienhuis
Specifications
Publisher
Cambridge University Press
Publication date
August 17, 2009
Pages
848
ISBN
9780521875196
Format
Hardback
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