Disorders of Hemoglobin

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.

Spis treści:
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.