Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management

by Martin H. Steinberg , Bernard G. Forget , Douglas R. Higgs , David J. Weatherall

• ISBN13: 9780521875196
• ISBN10: 0521875196
• Edition: 2nd
• Format: Hardcover
• Copyright: 2009-08-17
• Publisher: Cambridge University Press

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.