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9780521875196

Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management

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  • ISBN13:

    9780521875196

  • ISBN10:

    0521875196

  • Edition: 2nd
  • Format: Hardcover
  • Copyright: 2009-08-17
  • Publisher: Cambridge University Press
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Summary

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.

Table of Contents

Foreword H. Franklin Bunn
Preface
Introduction David Weatherall
The Cellular, Molecular and Genetic Basis of Hemoglobin Disorders: Introduction
The development of hematopoiesis
Erythropoiesis
The normal structure regulation of human globin gene clusters
The normal regulation of globin gene expression
The molecular and cellular basis of developmental globin gene switching
Structure and function of hemoglobin and its dysfunction in sickle cell disease
Hemoglobins of the embryo, fetus and adult
Pathophysiology of Hemoglobin and its Disorders: Introduction
Vascular biology
The erythrocyte membrane
The biology of vascular nitric oxide
Mechanisms and complications of hemolysis in sickle cell disease and thalassemia
The importance of animal models in understanding pathophysiology
+  Thalassemia: Introduction
The molecular basis of alpha thalassemia
The pathophysiology and clinical features of alpha thalassemia
Alpha thalassemia with mental retardation and myelodysplasia
Beta Thalassemia: Introduction
The molecular basis of beta thalassemia
Clinical aspects of beta thalassemia and related disorders
HbE disorders
Sickle Cell Disease: Introduction
Clinical and pathophysiological aspects of sickle cell anemia
Biology of pain and treatment of the sickle cell painful episode
HbSC disease and HbC
Sickle cell trait
Other sickle hemoglobinopathies
Other Clinically Important Disorders of Hemoglobin: Introduction
Unstable hemoglobins; hemoglobins with altered oxygen affinity; hemoglobin M; other variants of clinical and biological interest
Dyshemoglobinemias
Special Topics in Hemoglobinopathies: Introduction
Population genetics and global health burden
Genetic modulation of sickle cell disease and thalassemia
Developments in laboratory methods to detect hemoglobinopathies
New Approaches to the Treatment of Hemoglobinopathies and Thalassemia: Introduction
Transfusion and iron chelation
Induction of HbF
Novel approaches to treatment - (anitoxidants, statins, anti-inflammatory agents, K-Cl and Gardos inhibitors, other transport inhibitors, NO) Carlo Brugnara, Kirkwood A. Pritchard,
Stem cell transplantation Emanuele Angelucci and Mark Walters
Gene therapy
Table of Contents provided by Publisher. All Rights Reserved.

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