An updated, essential guide for the laboratory diagnosis of haemoglobin disorders

This revised and updated third edition ofHaemoglobinopathy Diagnosisoffers a comprehensive review of the practical information needed for an understanding of the laboratory diagnosis of haemoglobin disorders. Written in a concise and approachable format, the book includes an overview of clinical and laboratory features of these disorders. The author focuses on the selection, performance, and interpretation of the tests that are offered by the majority of diagnostic laboratories. The book also explains when more specialist tests are required and explores what specialist referral centres will accomplish. The information on diagnosis is set in a clinical context.

The third edition is written by a leading haematologist with a reputation for educational excellence. Designed as a practical resource, the book is filled with illustrative examples and helpful questions that can aide in the retention of the material presented. Additionally, the author includes information on the most recent advances in the field. This important text:

    Contains a practical, highly illustrated, approach to the laboratory diagnosis of haemoglobin disorders

    Includes test-yourself questions and provides an indispensable tool for learning and teaching

    Presents new material on antenatal screening/prenatal diagnostic services

    Offers myriad self-assessment case studies that are ideal for the trainee

Written for trainees and residents in haematology, practicing haematologists, and laboratory scientists,Haemoglobinopathy Diagnosisis an essential reference and learning tool that provides a clear basis for understanding the diagnosis of haemoglobin disorders.

About the author

Barbara J. Bain, MB BS, FRACP, FRCPath is Professor of Diagnostic Haematology, St Mary's Hospital Campus, Imperial College Faculty of Medicine, and Honorary Consultant Haematologist, St Mary's Hospital, London, UK.

Preface vii

Abbreviations and glossary viii

1 Haemoglobin and the genetics of haemoglobin synthesis 1

2 Laboratory techniques for the identification of abnormalities of globin chain synthesis 30

3 , , and thalassaemias and related conditions 85

4 Sickle cell haemoglobin and its interactions with other variant haemoglobins and with thalassaemias 185

5 Other significant haemoglobinopathies 261

6 Acquired abnormalities of globin chain synthesis or haemoglobin structure 325

7 Organisation of a haemoglobinopathy diagnostic service 348

8 Self-assessment: test cases 365

Appendix: electronic resources 407

Index 411