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Thalassaemia: The Biography PDF

258 Pages·2010·1.662 MB·English
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thalassaemia This page intentionally left blank thalassaemia The Biography R David Weatherall 3 3 Great Clarendon Street, Oxford ox26dp Oxford University Press is a department of the University of Oxford. It furthers the University’s objective of excellence in research, scholarship, and education by publishing worldwide in Oxford New York Auckland Cape Town Dar es Salaam Hong Kong Karachi Kuala Lumpur Madrid Melbourne Mexico City Nairobi New Delhi Shanghai Taipei Toronto With offi ces in Argentina Austria Brazil Chile Czech Republic France Greece Guatemala Hungary Italy Japan Poland Portugal Singapore South Korea Switzerland Thailand Turkey Ukraine Vietnam Oxford is a registered trade mark of Oxford University Press in the UK and in certain other countries Published in the United States by Oxford University Press Inc., New York © David Weatherall 2010 The moral rights of the author have been asserted Database right Oxford University Press (maker) First published 2010 All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, without the prior permission in writing of Oxford University Press, or as expressly permitted by law, or under terms agreed with the appropriate reprographics rights organization. Enquiries concerning reproduction outside the scope of the above should be sent to the Rights Department, Oxford University Press, at the address above You must not circulate this book in any other binding or cover and you must impose the same condition on any acquirer British Library Cataloguing in Publication Data Data available Library of Congress Cataloging in Publication Data Library of Congress Control Number: 2010930323 Typeset by SPI Publisher Services, Pondicherry, India Printed in Great Britain on acid-free paper by Clays Ltd., St Ives Plc ISBN 978–0–19–956560–3 1 3 5 7 9 10 8 6 4 2 preface The thalassaemias are among the most common genetic diseases and affect thousands of children throughout the world. This short account of the history of this disorder and how the elucidation of its underlying causes helped to lead the way towards the era of molecular medicine is based in part on a more extensive account in an earlier book, The Thalassaemia Syndromes, and several other essays and reviews on the same theme. For readers who wish to explore aspects of this fi eld in more detail, or its extensive literature, there is a short bibliog- raphy to point them in the right direction. For those who are unfamiliar with current genetics, there is also a short glossary. In tracing this complex story I have had the help of many colleagues over the years, notably Maxwell Wintrobe, Ida Bianco, Robin Bannerman, Vernon Ingram, and John Clegg. I would also like to acknowledge the help of Jeanne Packer and Liz Rose in preparing this manuscript, Lady Brabourne for giving permission to reproduce the picture of Lady Mountbatten and Jaspir Thapa, Wolf Zeulzer for the photo- graph of Thomas Cooley, Elizabeth Letsky for the photograph of the thalassaemic child, and Blackwell/Wiley for permission to reproduce other fi gures from The Thalassaemia Syndromes. v This page intentionally left blank contents List of Illustrations ix Prologue 1 1 The First Descriptions of Thalassaemia 6 2 Thalassaemia as a Genetic Disease 24 3 Thalassaemia as a Genetic Disorder of Haemoglobin Production 35 4 The Diversity and Pathology of the Thalassaemias 59 5 Early Improvements in the Management of Children with Thalassaemia 89 6 Thalassaemia and the Dawn of Molecular Medicine 111 7 The Control and Management of Thalassaemia in the Cellular and Molecular Era 146 8 The Commonest Genetic Diseases: Was Haldane Right? 175 9 Epilogue: Thalassaemia and Molecular Medicine 194 Glossary 207 Bibliography and Further Reading 213 General Index 237 vii This page intentionally left blank list of illustrations 1. Lady Mountbatten with Jaspir Thapa, February 1960. Courtesy of Lady Brabourne 4 2. Letter from Lord Mountbatten to the author, May 1979 5 3. Thomas B. Cooley. Courtesy of Wolf Zeulzer 11 4. A child with severe thalassaemia. Courtesy of Elizabeth Letsky 12 5. A skull X-ray from a child with severe thalassaemia 13 6. Peripheral blood fi lm of a child with thalassaemia 14 7. Haemoglobin electrophoresis on starch gel 40 8. The haemoglobin patterns in the sickle-cell trait and sickle-cell b thalassaemia 47 9. Haemoglobin changes in the sickle-cell trait 48 10. Ragged inclusion bodies in the red-cell precursors in the bone marrow of a patient with b thalassaemia 75 11. Globin synthesis in normal and b thalassaemic red cells 80 12. The effects of the development of prenatal diagnosis on the expected number of births with thalassaemia 109 ix

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