Due June 2013 • 445 pp., illus. (66 4C, 19 B&W). index
Hardcover • £85 • ISBN  978-1-936113-45-3

Hemoglobin is an iron-containing protein in red blood cells that transports oxygen to tissues throughout the body. The abundance, stability, and oxygen-carrying properties of hemoglobin can be altered by genetic mutations. More than 1000 hemoglobin disorders are known; hemoglobinopathies (e.g., sickle cell disease) and thalassemias are some of the most common human genetic diseases worldwide.

Written and edited by experts in the field, this volume covers all aspects of hemoglobin and its diseases. Contributors examine the structure, expression, and evolution of the globin genes, the assembly of globin subunits into functional forms of hemoglobin, and the numerous variants that result from genetic alterations. The pathophysiological consequences of hemoglobin disorders (e.g., ineffective erythropoiesis and aberrant iron homeostasis), their clinical manifestations, and epidemiological trends are also described.

This book includes discussions of management and treatment strategies for hemoglobin disorders, such as transfusions, iron-chelating agents, gene therapy, and stem cell transplantation. It is an indispensable reference for biochemists, geneticists, cell and developmental biologists, physiologists, and all who are interested in reducing the medical burden of these common genetic diseases.

Preface

Hemoglobin and its Disorders: 150 Years of Study

David J. Weatherall, Alan N. Schechter, and David G. Nathan

Erythopoiesis: Development and Differentiation

Elaine Dzierzak and Sjaak Philipsen

Erythropoietin

H. Franklin Bunn

Evolution of Hemoglobin and its Genes

Ross C. Hardison

Transcriptional Mechanisms Underlying Hemoglobin Synthesis

Koichi R. Katsumura, Andrew W. DeVilbiss, Nathaniel J. Pope, Kirby D. Johnson, and Emery H. Bresnick

The Switch from Fetal to Adult Hemoglobin

Vijay G. Sankaran and Stuart H. Orkin

Iron Metabolism: Interactions with Normal and Disordered Erythropoiesis

Tomas Ganz and Elizabeta Nemeth

Erythroid Heme Biosynthesis and its Disorders

Harry A. Dailey and Peter N. Meissner

Classification of the Disorders of Hemoglobin

Bernard G. Forget and H. Franklin Bunn

World Distribution, Population Genetics, and Health Burden of the Hemoglobinopathies

Thomas N. Williams and David J. Weatherall

The Molecular Basis of β Thalassemia

Swee Lay Thein

The Molecular Basis of α Thalassemia

Douglas R. Higgs

Pathophysiology and Clinical Manifestations of the β Thalassemias

Arthur W. Nienhuis and David G. Nathan

β-Thalassemia Intermedia: A Clinical Perspective

Khaled M. Musallam, Ali T. Taher, and Eliezer A. Rachmilewitz

The Hemoglobin E Thalassemias

Suthat Fucharoen and David J. Weatherall

Clinical Manifestations of α Thalassemia

Elliott P. Vichinsky

Alpha Thalassemia, Mental Retardation, and Myelodysplastic Syndrome

Richard J. Gibbons

Management of the Thalassemias

Nancy F. Olivieri and Gary M. Brittenham

The Prevention of Thalassemia

Antonio Cao and Yuet Wai Kan

The Natural History of Sickle Cell Disease

Graham R. Serjeant

The Search for Genetic Modifiers of Disease Severity in the β-Hemoglobinopathies

Guillaume Lettre

Current Management of Sickle Cell Anemia

Patrick T. McGann, Alecia Nero, and Russell E. Ware

Hematopoietic Stem Cell Transplantation in Thalassemia and Sickle Cell Anemia

Guido Lucarelli, Antonella Isgrò, Pietro Sodani, and Javid Gaziev

Development of Gene Therapy for Thalassemia

Arthur W. Nienhuis and Derek A. Persons

Pluripotent Stem Cells in Research and Treatment of Hemoglobinopathies

Natasha Arora and George Q. Daley

Hemoglobin Variants: Biochemical Properties and Clinical Correlates

Christopher S. Thom, Claire F. Dickson, David A. Gell, and Mitchell J. Weiss

Cell-Free Hemoglobin and its Scavenger Proteins: New Disease Models Leading the Way to Targeted Therapies

Dominik J. Schaer and Paul W. Buehler

Iron Deficiency Anemia: A Common and Curable Disease

Jeffery L. Miller

Index