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Hemoglobin and Its Diseases


Subject Area(s):  Human Biology & Disease

Edited by David Weatherall, Weatherall Institute of Molecular Medicine; Alan N. Schechter, National Institutes of Health; David G. Nathan, Dana-Farber Cancer Institute

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© 2013 • 445 pp., illus. (66 4C, 19 B&W). index
Hardcover • $135 • ISBN  978-1-936113-45-3


 

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Description

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 collection from Cold Spring Harbor Perspectives in Biology 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.

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Contents

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
α-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
 
 
          
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