Hemoglobin and Its Diseases

by David Weatherall, Alan N. Schechter, David G. Nathan

Overview

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 one thousand 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 Medicine 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 volume 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.

Product Details

ISBN-13:	9781936113453
Publisher:	Cold Spring Harbor Laboratory Press
Publication date:	06/30/2013
Series:	Cold Spring Harbor Perspectives in Medicine
Pages:	456
Product dimensions:	7.30(w) x 10.30(h) x 1.10(d)

Table of Contents

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 Beta Thalassemia
Swee Lay Thein

The Molecular Basis of Alpha Thalassemia
Douglas R. Higgs

Pathophysiology and Clinical Manifestations of the β Thalassemias
Arthur W. Nienhuis and David G. Nathan

β-Thalassemias 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 Alpha 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