Sickle Cell Anemia From Basic Science to Clinical Practice

Although sickle cell anemia was the first molecular disease to be identified, its complex and fascinating pathophysiology is still not fully understood. A single mutation in the beta-globin gene incurs numerous molecular and cellular mechanisms that contr

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Sickle Cell Anemia

Fernando Ferreira Costa • Nicola Conran Editors

Sickle Cell Anemia From Basic Science to Clinical Practice

Editors Fernando Ferreira Costa Centro de Hematologia e Hemoterapia Unicamp Campinas, São Paulo, Brazil

Nicola Conran Centro de Hematologia e Hemoterapia Unicamp Campinas, São Paulo, Brazil

ISBN 978-3-319-06712-4 ISBN 978-3-319-06713-1 DOI 10.1007/978-3-319-06713-1

(eBook)

Library of Congress Control Number: 2016933678 Springer Cham Heidelberg New York Dordrecht London © Springer International Publishing Switzerland 2016 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. Printed on acid-free paper Springer International Publishing AG Switzerland is part of Springer Science+Business Media (www.springer.com)

To all those with sickle cell disease, their families and their caregivers.

Preface

Although sickle cell anemia was the first molecular disease to be identified, its complex and fascinating pathophysiology is still not fully understood. A single mutation in the beta-globin gene incurs numerous molecular and cellular mechanisms that contribute to the plethora of manifestations and complications associated with the disease. Knowledge regarding sickle cell disease mechanisms, while still not complete, has broadened considerably over the last decades. Sickle Cell Anemia: From Basic Science to Clinical Practice aims to provide an update on some aspects of our current understanding of the disease’s pathophysiology and use this information as a basis to discuss its manifestations in childhood and adulthood, as well as therapeutic approaches to the disease. An introductory chapter (Chap. 1) describes the structure and function of hemoglobin, giving us a clue as to why a single gene mutation can wreak such havoc in the red blood cell. Chapter 2 describes the current theories regarding the emergence of the sickle mutation and the subsequent epidemiology of sickle cell anemia. Chapter 3 presents an overview of sickle cell disease pathophysiolo