Disorders of hemoglobin : genetics, pathophysiology, and clinical management
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Disorders of hemoglobin : genetics, pathophysiology, and clinical management
Cambridge University Press, 2001
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Includes bibliographical references and index
HTTP:URL=http://www.loc.gov/catdir/description/cam021/00046749.html Information=Publisher description
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Description and Table of Contents
Description
The first comprehensive reference on the genetic and acquired disorders of hemoglobin in over a decade, Disorders of Hemoglobin stands out as the definitive work on the genetics, pathophysiology, and clinical management of this wide-range of disorders. Drs. Steinberg, Forget, Higgs, and Nagel have gathered the absolute world authorities on the science and clinical management of thalassemias, sickle cell disease, and other inherited and acquired hemoglobinopathies to create the authoritative textbook for researchers and clinicians alike. Divided into eight distinct sections, coverage spans the molecular and genetic basis of hemoglobinopathies and thalassemias, their epidemiology and genetic selection, and the diagnosis and special treatments of b and a thalassemias, sickle cell disease, Hb E, unstable hemoglobins, Hb M disorders, and acquired and secondary disorders of hemoglobin. Clinical features of all disorders are anchored to the scientific and pathophysiological events which precede them; providing clinicians with a clear scientific background of the disorders they treat and scientists with an essential link between their research and its clinical manifestation. Disorders of Hemoglobin is the only single-source reference of its kind for hematologists, internists, pediatricians, clinical investigators, and geneticists worldwide.
Table of Contents
- Foreword
- Introduction
- 1. Historical aspects
- Part I. Molecular, Cellular, and Genetic Basis of Hemoglobin Disorders: 2. Developmental erythropoiesis
- 3. Erythropoiesis
- 4. Nuclear factors that regulate erythropoiesis
- 5. Organization, evolution and regulation of the globin genes
- 6. Molecular genetics of human globin genes
- 7. Molecular and cellular basis of hemoglobin switching
- 8. Hemoglobin synthesis and translational control
- 9. Hemoglobin structure and function
- 10. Hemoglobins of the embryo and fetus and minor hemoglobins of adults
- Part II. The b Thalassemias: 11. Pathophysiology of b thalassemia
- 12. Molecular mechanisms of b thalassemia
- 13. Clinical aspects of b thalassemia
- 14. Structural variants with a b thalassemic phenotype
- 15 Deletion HPFH and the delta-b thalassemias
- Part III. The a Thalassemias: 16. Pathophysiology of the a thalassemias
- 17. Molecular mechanisms of a thalassemia
- 18. Clinical and laboratory features of the a thalassemia syndromes
- 19. a Thalassemia mental retardation syndromes
- Part IV. Sickle Cell Disease: 20. Pathophysiology of sickle cell anemia
- 21. Red cell membrane in sickle cell disease
- 22. Cellular adherence in sickle cell disease
- 23. Sickle hemoglobin polymerization
- 24. Clinical aspects of sickle cell anemia in adults and children
- 25. The nature and treatment of the acute pain episode
- 26. Genetic variability in sickle cell anemia
- 27. Hb SC and Hb C disease
- 28. Other sickle hemoglobinopathies
- 29. Sickle cell trait
- Part V. Epidemiology and Genetic Selection of Hemoglobinopathies and Thalassemia: 30. Balanced polymorphism in sickle cell disease and thalassemia-malaria
- 31. Worldwide distribution of b thalassemia
- 32. Worldwide distribution of a thalassemia
- 33. Geographic heterogeneity of sickle cell anemia
- Part VI. Diagnosis and Special Treatments for Sickle Cell Anemia and b Thalassemia Introduction: 34. Laboratory diagnosis, animal models
- 35. DNA-based diagnosis of hemoglobin disorders
- 36. Antenatal diagnosis, neonatal screening, population screening
- 37. Transfusion and iron chelation in sickle cell disease and thalassemia
- 38. Pharmacologic treatment of sickle cell disease and thalassemia
- 39. Bone marrow transplantation in b thalassemia
- 40. Bone marrow transplantation in sickle cell anemia
- 41. Prospects for gene therapy in sickle cell disease and thalassemia
- 42. Experimental treatment of sickle cell anemia and thalassemia
- Part VII. Other Inherited Disorders: 43. Hb E disorders
- 44. Unstable hemoglobins, hemoglobins with altered O2 affinity, Hb M
- 45. Other mutant hemoglobins
- Part VIII. Acquired Disorders of Hemoglobin: 46. Acquired and secondary disorders of hemoglobin.
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